A highly systematic and practical guide that turns complex neuroanatomy into a clear diagnostic roadmap for clinicians. It effectively prioritizes clinical utility and diagnostic precision over unnecessary academic abstraction.
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for this evening and anyhow uh the presenters will be for this week Dr. Dhumar and Sudash the final postgraduates from the department in institute of internal medicine MMC going to present the case of neurological case over to Dr. Rumadvi madam to take over the further proceedings and requesting the postgraduates to present the case.
I'll try to join madam if you suppose later part of this hour maybe 9 9:15 the coverage is good I'll join back madam no issues >> oh okay sir no issues sir >> yes uh good evening to all of you I would like to thank the uh API south zone for giving medical college opportunity to present a case so we are going to present the neurological case by Dr. Sudar and Dr. Dhumar over to you Dr. Sudesh.
>> Uh yes ma'am. Uh good evening sir ma'am.
I guess ma'am can you hear me ma'am?
>> Yes yes yes continue. Uh >> my patient is not able to hear. Uh yes yes staff >> yes Mrs. A 31 year old studied up to class 10 discontinued after that unemployed a right-handed individual belonging to lower middle soio economic class with an informant being herself and a mother presented with the chief complaints of unsteadiness while walking for the 18 years and difficulty in getting up from squatting position for 18 years with oscillation of objects while seeing for the past 6 months.
of presenting illness. The patient was apparently normal till 13 years of age.
After which she noticed soreness and unsteadiness while walking in a single line in the form of spaying to both sides. However, she was able to maintain balance by walking with her feet wide apart as noticed by a mother and avoid falls. Due to this unsteadiness, the patient was not able to play with the peers at school and hence avoided participating in physical activity.
Five years back at her 26 years of age, the patient's mother noticed gradually worsening unsteadiness such that she was not able to walk without support of wall or handrails. She had multiple episodes of fall while walking with difficulty in getting up. However, the patient was able to help her mother with immediate jobs around the house and a kitchen.
There was of difficulty in negotiating narrow paths with no other history of worsening unsteadiness when the patient was washing her face or while walking in the dark. There was no history of any unsteadiness while sitting and there was no history of any associated tenitus, vertigo or hearing loss.
The patient then also had complaints of difficulty in getting up from squatting position since 13 years of age which was insidious in onset now progressed in the past 5 years to inability in getting up after fall or after lying down and requires the help of the mother and this was associated with no addal variation.
She was able to climb stairs but had difficulty in climbing down stairs and distance by taking one foot at a time with the help of the side rails. There was no history of any buckling of knees and there was no history of difficulty in rolling in the bed. The patient then noticed history of difficulty in reaching for the objects accurately for the for the for the past 5 years. So the patient went to the typewriting class one year ago but discontinued after 3 months due to the slowness of writing and stimul this started only five years ago.
>> Yes ma'am. All the other symptoms were for 13 years. This started only five years >> was progressive.
There was no history of any difficulty in holding the objects with the hands.
There was no history of difficulty in mixing food or bringing the food to the mouth. There was no history of any smearing of food on the face.
The patient then uh noticed history of difficulty in insulinating the food into the slipper which was initially present 13 years ago. So she uses the support of the walls or the hands to insulate.
This gradually progressed over the past 5 years to have difficulty in gripping slippers with the aare slippage of the slippers after which she started wearing a belt chapel.
There was no history of any tripping of toes while walking and there was no history of difficulty in clearing the obstacles on the ground and these symptoms gradually progressed.
Now to the present complaint of history of difficulty in hanging clothes for drying because she feels oscillation of objects on looking up which is present for the past 6 months and this gradually progressed over one month to involve oscillation of objects on all directions while seeing and increased while walking and it was not associated with any ringing sensation, hard of hearing, nausea or vomiting. The patient mothers says that she noticed her daughter's high to move in different directions at all times.
There was no history of any flaring of speech.
There was no history of difficulty in using the left hand for perennial hygiene. There was no history of difficulty in combing the hair. There was no history of difficulty in raising the head from the pillow in supine or prone position. There was no history of difficulty in holding the head in upright posture while sitting. There was no history of abnormal muscle bulk.
There was no history of abnormal posture. There was no history of stiffness, planess, twitching or wasting. There was no history of any agonizing pains or cramps. She was able to perceive cloth sensation, insect bite, hot and cold sensation while taking bath and eating. There was no history of any numbness or needles, burning sensation or cotton sensation while walking barefoot. There was no history of shock like sensation while bending her neck and there was no history of any badlike sensation in the tank.
She was able to perceive smell in bilateral nostrils and there was no history of any blurring of vision. She was able to appreciate and distinguish colors and there was no history of bumping over objects by looking or any double vision while seeing on both eyes or using either eye. There was no history of difficulty in moving eyeballs in all directions nor any drooping of eyelids.
The patient had no history of difficulty in chewing of food or difficulty in opening or closing the jaw. She was able to appreciate the sensation over the face. There was no history of any dryness or abnormal watering from ear or deviation of angle of mouth or drooling of saliva while drinking or eating.
There was no history of hard of hearing tentors or vertigo and there was no history of difficulty in swallowing for both liquid and solid or any masition of food when attempted swallowing nor any horseness of voice. The patient had no history of any difficulty in turning heads from side to side and bending neck forward and there was no history of any difficulty in shrugging the shoulders.
There was no history of difficulty in any complete protrusion of tongue or in difficulty in rolling the tongue from side to side. The patient was able to make a bolus uh and push into the throat.
She was able to perceive bloodfulness, able to initiate purition. There was no history of any increased frequency of maturation, urging continents, noia, dribbling of urine or interrupted stream. There was no history of any incomplete emptying sensation nor any altered bowel movements or any constipation. The patient had no history of postal giddiness or sinko and there was no history of abnormal sweating, dryness of skin or hair loss. There was no history of any headache, nausea, vomiting or loss of consciousness or seizures as of way. There was no history of any behavioral emotional disturbance.
There was no history of memory disturbance.
There was no history of any stoure.
The patient did not give any issue of fever, skin rash, multiple joint pain preceding the events. The patient did not have any history of greasy stools or chronic diarrhea or increased flatulence or foul swing stools with bloating. The patient had no history of loss of weight, appetite, any abnormal sweating in the body. The patient had no history of any cold intolerance, dry skin, excessive weight gain or easy fatigue.
There was no history of sino pulmonary infections or excessive hyperpigmentation or wrinkling of sun exposed areas. There was no history of any tropical cul in or food or dead sores and there was no history of any chest pain or palpitations.
>> Okay.
Go from the beginning. No, just the first slide.
>> Yes.
>> So this patient, what is the age of the patient?
31 years. Age >> of the patient is 31 now. Yes.
>> And the all the symptoms started when she was 13 years old.
>> Yes ma'am. At 30 years.
>> Okay. Now what is the importance of age presentation uh with relevance to atexia? Now younger age what will you think? Older age now can you tell discuss about it?
>> Yes sir. Uh the case of attackia uh they are broadly divided based on age as either a childhood onset or an early onset or a late onset. Uh the childhood onsetas are usually of the posterior mal foration like dandy walker syndrome or because of any wormous hypoplasia like jout syndrome or because of any posterior fossa tumors like neuroblastoma.
uh the or it can be because of any torch infection which the baby could have acquired from the mother like any toxopplasmosis or cytogallo viruses which can cause intraanial calcification leading to cerebellar attacks.
The next type which is the early onset which manifest around the teens or 20 years of age. uh usually it is the hereditary regenerative disorders where uh less in less than 25 years the autotosomal recessive disorders are more common and more than 25 years the autosomal dominant disorders are more common. So the early onset attacksia referring to autosomal dominant are uh an episodic attackia or it can be a dental paradonial atrophy or it can be a spinocyular atexia like star with reference to autosome recessive type ofia that can be a frenics atia or an attackia.
uh in the case of late onset attack which typically manifest around 40 years of age there can be uh spinal cerebellular attacks specific types like three which is mad Joseph's uh disease or there can be a scar type six which is a pure cerebilar type of attack that presence late uh in onset or there can be multiple system atrophy uh belonging to cerebellite which is a parkinson plus syndrome or it can be due to a stroke manifestation or it can be due to any paranoplastic cerebilion ation or it can be a gluten atexia or it can be an anti-ad antibbody causing cerebellar atexia or it can be an idiopathic late onset cerebular attack. These are the possible types which can be we can class based on.
>> Yes. So anyways we'll have to uh later age onset we'll have to see the treatable cost like alcohol and all that stuff. Right.
>> Yes.
>> Now what is the importance of occupation for atexius? Is there any relevance?
>> Uh yes ma'am. Uh most of the cellular atexia can have a Yes ma'am. they can have a uh an exposure chronic exposure to a toxin or a heavy metal because of occupational related history.
If the if the patient is a glass blowing in glass blowing industry or in any gold mining industry they have a chronic exposure to mercury which can cause uh minatas of a disease which can manifest with cellular attacks and in case of painters they can have chronic lead exposure as well as toine exposure and bi derivatives which can cause chronic centrical attacks and uh with people working in petroleum industry there can be in relation to gasoline and again toine tax.
So occupation history becomes very important but not in this case but if it was an later onset we'll have to think of it. Now we are talking so much of it taxia. What is it taxia? Basically just define a taxia.
>> Ma'am, a taxia is defined as an inability to maintain balance that is due to a loss of uh a conscious propriception which is either the dorsal column or the visual pathway or due to any peripheral vestibular apparatus pathway and all of this can be modulated by an unconscious propus which are the cerebilum and spinal cerebellar tracks.
So any defect in the following pathway can result in attack.
>> So what are the basically types of atexia and how will you differentiate each because symptoms is very important for history.
>> Yes ma'am.
Uh so basically there are first type will be a cerebular atexia.
Second will be a sensory atexia. Then vestibular atexia. Then you can have a front type of atexia. Then you can have a basal ganglia type of atexia or a functional type of taxia. Uh a functional type of also known asia abasia where the patient cannot walk and the patient cannot stand. Uh they will have a bizarre gate and uh it is due to a functional neurogenic psychiatric disorder. So the falls are pretty rare.
In the case of basal ganglia type of attacks here that manifest due to parkinsonism uh they can have associated symptoms in the history suggestive of stiffness due to rigidity or they can have a slowness of movement suggestive of bradicinesia or they can have trembulousness at rest suggestive of resting tumbas or with the poster instability in the form of history of repeated falls. uh they will have a classical uh short shuffling gate with a stoure uh also called as pestilian gate.
Uh in the case of frontal type of attacksia uh they have a difficulty in the initiation of the gate. So they have a characteristic uh magnetic or a freezing type of gate. Uh the frontal attacks here can uh this is usually associated with the cognitive decline.
In the case of the three major attacks which is cerebular, sensory and vestibular. The vestibular attacks here usually in history they'll be associated with history of nausea or vomiting uh ear pain or hard of hearing or any tenitus and uh it is usually it will usually be a unilateral site due to any neuritis or labitis and uh on history the patient can say that usually sleeps with the affected ear at the uh top.
uh whereas to differentiate between cerebral attacks and sensory attacks.
Cerebular attacks will usually have a unsteadiness uh form of patient assume it's a wide base gate which can be given by history and there can be oscillopsia which is oscillation of the objects and there can be speech difficulty in the form of disadria. Whereas in the case of sensory attacks here uh they have unsteadiness gate uh which worsens in the dark and uh it worsens on washing phase which is a characteristic wash facing phenomenon and uh they are usually associated symptoms like uh burning sensation, tingling sensation and numbness and this is absent in a cellular attack. Whereas on on examination uh in the cellular attacks here we can see a hypotonia and a pendular type of feature. In sensory attacks here we can only see absent reflexes and uh in cellular attacks the ros will be negative whereas in sensory attacks ros will be positive and uh sensory attack there may be impairment of vibration propion and fine touch.
>> The gate cereal.
>> Yes sir. In cericular uh the gate will be a lurching type of gate a staggering type of gate or also known as drunken gate where the patient will assume a wide based stance with the swaying to either sides depending upon which part of the cerebulum is involved. If the vermis is involved then they will have a two two and fro movement. If there is a cerebular hemisphere involved they will have a side to side uh movement. If there is a a paleio cerebellum involvement in the form of parabis they will have a gentle strain and if the flock nodular lobe is involved then they have a characteristic drunken.
Uh however in the case of presensory atexia uh the problem is the patient cannot analyze at what uh uh height the floor is present. So he normally uh has a high stepping uh gate uh with the toes uh landing first than the heel uh which is contrary to the normal and sometimes they can have a stick with them to walk which is called as a stick and stop gate where we can hear three signs.
>> Very good. And they'll have that audible stamp the white based gate. Yes ma'am.
>> With the audible stamp that is for sensory. Okay. So now the next uh thing is he has difficulty in getting up from spatting position. So can you analyze this symptom first?
Yes ma'am. uh for getting up uh from squatting position the patient uh requires the use of uh hip extensor which is the glutius maximus the knee extensor which is a cortis and they require a erect posture which is to the rect and all of this needs to be centrally integrated in the basal ganglia cerebelum which the basal gang initiates the movement and cerebellum mod.
So uh in this patient uh she has complaints of difficulty in getting up from squatting position uh which was in serious onset but it progressed now to difficulty in getting up after fall.
However, she further gives history of uh she was able to climb upstairs which requires the proximal muscles. So this uh I I probably like to localize the symptom that the cerebulum is involved because the patient is has difficulty in getting up because of uh uncoordination.
>> Very good. So next question is uh now when there is difficulty in climbing upstairs or difficulty in climbing downstairs so how will you analyze the center? No in neurology it's a very important part just tell.
>> Yes ma'am. uh for uh this uh like for coming upstairs we need the proximal muscle involvement which is like glutius maximus. So if there is a difficulty in climbing upstairs there is a definite proximal myopathy or radicopathy involvement but if the patient complains only of difficulty in climbing downstairs then it means the proximal muscle is good. So there can be a problem in either the proper reception which is the sensory propion due to dorsal column or because of unconscious propion from the cerebulum.
Uh so or it can be because of some park inism where they have rigidity and therefore there will be small snuffling steps can be present. So in this patient uh she had difficulty in climbing downstairs and uh while descending she places one foot at a time uh and she probably says it because of the trelessness and incompatation of the lower. So I would probably like to localize it to the cerebula.
>> So now there is tremlessness. So now tell me what is tremor and what are the tites of tremor?
I'm uh tremor is defined as a repetitive rhythmic involuntary oscilly mments that happens across a joint and uh broadly tremors can be divided as pseudotmas or true tremors. Pseudot tremors are opposite of the definition that is they are amical and nonrepetitive.
They can be seen in hypoxic enapopathy along with myophonic jerks. They can be seen in hypatic enkopathy or in urinicopathy.
uh whereas a true tremor is uh is subdivided into either a physiological tremor or a pathological tremor. A physiological tremor is uh when there is an increased ionotropy and the chronotropy of heart due to increased contraction and increased uh heart rate.
This can occur in anxiousness, fever or uh due to use of beta agonomist or due to thyrotoxyosis.
Uh coming to pathological tremor ma'am.
Uh pathological tremor can be a resting tremor or it can be action tremor or it can be a poster tremor or it can be a rubber tremor. Uh uh a resting tremor at rest also known as a prolling tremor or a a drum beating tremor is characteristically seen in Parkinson's disease. Whereas uh the postural tremor which is which can be elicited when the patient has the outstretched arm where there can be okay tremors which is seen in essential tremors and uh this uh this essential tremor can also have head involvement in the form of uh two and fro motion which is yes or no movement. Essential tremors can either be soratic or they can be related to automal dominant. With regard to action tremors, uh there can either be a kinetic tremor or intention tremor. In the kinetic tremor, the tremor will be throughout uh the phase of the movement.
Whereas an intention tremor, the tremor will increase when the finger reaches towards the object. So a chinetic tremor can be seen in any condition like multiple sclerosis. Whereas an intentional tremor is characteristic of a cerebellar disorder where there is an incoordination between an aromist and antagonist. Uh so in my patient with history of difficulty reaching the objects accurately that is uh where there is an intention she cannot reach.
Uh I probably to intentional of >> but there is no history of smearing so it's only for the typing very fine moments only she seems to be having right that is there.
How can we see palatal tremor?
>> Uh pal tremor can be seen in the scar 20 which is associated with bilateral dentate hyperintensity can also be seen in Alexander's disease.
Okay. Now go to the next slide.
Okay. Now history of difficulty in insinuating foot into the slipper. Can you analyze this component of it?
So uh she initially feels history of difficulty in inating the food into the slipper and she attributes it to the unsteadiness. So for uh insulination or for placing the food uh we require the action of both the sensory system which is the column as well as the cerebulum.
And uh if the patient gives history of uh difficulty in uh placing the foot but it gets improved with visual correction then it's probably due to sensory and if it doesn't even improve on sensory as in this symptom uh visual cue then it can be due to cereb but uh so she uses the support of walls and incident. However, this progressed to difficulty in gripping the slippers with wear p of slippers for the past 5 years which means it has progressed to a difficulty in gripping uh which can either be due to a a toe flexar abnormality or intrinsic muscles of foot which is uh defective and that is why the patient has an aware slippage or slippers. So probably there can be a a distilled peripheral neuropathy or radicopathy which can be present probably in the S1 root just >> so there is some difficulty in gripping also some motor component also is there for past five years that is what we are getting from this history right >> okay now you said some oxilation of object what is oxilos oxilos and how will you differentiate it from vertigo now these two important component. No.
>> Yes.
>> So the patient had this oscillation of objects only for the past six months.
Now this is a roselop says then illusion uh that the environment around is uh moving due to the failure of gay stabilization. So it is a primarily a gaze disorder. So osteelopsia is a symptomatology of distag which we can see in the vestibular or cellular disorder. This oscillia manifest because of a failure of the vestibular ocular reflex where the fixation will be defective.
uh in comparison uh to the vertigo uh osteopsia the patient feels that uh the environment uh around him is uh moving uh continuously and this is increased on doing any activity like walking whereas uh vertigo is an induction of selfing that the patient is spinning himself.
In osopsia there is no nausea womiting but in vertigo there can be nausea, womiting and tinitus and uh in oselopsia the defect is due to the vestigular ocular reflex whereas in vertigo it is due to a peripheral vestigular apparatus effect that is responsible. So uh in uh the the cause of oelopsia is a central cause which is a cerebular apparatus or a central cause of vestigular apparatus failure. Whereas a vertigo can either be a peripheral or a central. A peripheral cause can either be a pen peroxim vertigo or minus disease and central can again be multiple sclerosis or a cular.
>> So this is a very uh you know very history very difficult to get from lot of patients but uh this ladies smart enough to tell us this complaint right?
>> Yes ma'am. Patient mother was very knowledgeable because knowledgeable to get this history otherwise it's really usually so difficult to get such a fine history. Now suppose atexia is with motor symptoms what are the causes?
Motor atexia with sensory symptoms what will be the causes?
uh if there is uh presence of atexia with a motor component as uh as seen in this patient uh then there can be a reduced atexia due to involvement of the posterior column and the lateral corticostal tract or uh that can be in uh a vitamin E deficiency which is a closed differential pericaxia or uh it can be seen in some types of spinal cerebellar atexia with pyramidal involvement like uh SCA 1 2, three and uh seven and uh attach with motor involvement can also be seen in a lacon or stroke due to the involvement of the middle cerebellar pedunk which is a cortical pondular fiber where the patient presence withiciparasis >> very motor compon >> sensory uh the patient presence with atexia along with sensory symptoms then The most important difference will be a subacute combined degeneration of spot due to efficiency. There is a posterior column and a natural natural corticus for an tract involvement or uh there can be any uh CV junction uh abnormality the form of any baselar invagination or atlantoaxial assimilation or uh the patient has an HIV myo neuropathy with HIV affecting cerebellum form of cerebral ination they can have sensory symptoms and uh atia cerebral symptoms can also be seen with Frederick's atexia and and attacks you with vitamin E deficiency where the problem is in the posterior column and the particle smell tract.
>> Now suppose if autonomic symptoms predominant here there is no autonomic right?
>> Yes ma'am no no no postal hypotension or no abnormal. Okay. So now suppose attacks are presenting with autonomic symptoms. What are the things you'll suspect?
>> Uh attacks with autonomic can only be seen in multi- system atropy of the cerebral type which presents very late or uh there is one more condition that is fragile uh syndrome with tumbler attacks here which is an extreme dominant condition and only these two conditions with dysfunction. That's >> okay. We'll go to that negative history of means that n take the next next >> uh yeah can you explain so this is a very important slide as far as spinal cerebellar atexia or cerebellar retaxia.
So just can explain this slide please.
Uh in the case of attacks yeah uh the low isue of fever or skin rash rules out the presence of any viral exantanthus fever uh like any extreme bar virus or cytogallo virus uh which can cause chicken pox. Yes chicken pox >> which can cause tuberculosis all that also has to be thought of my plasma all of these can cause acute cerebilitis.
>> Yes. No history of greasy stools or pronic diarrhea is to rule out if there is any gluten insensitivity which occurs due to having rye or woods and uh the no of increased platulence or foul smelling bloating which is due to if there is any statoria that occurs secondary to a beta lipoproteinia which can induce uh vitamin E deficiency.
uh post loss of weight or appetite or any abnormal or to rule out if there is any uh malignancy which can give rise to paranoplastic cerebellar degeneration.
Uh no of any cold intolerance dry skin excessive weight gain easy rule out if there is any hypothyroidism or if there is any steroid responsive thyroiditis uh steroid responsive enkritis without thyroiditis which can also be seen in hypothyroidism.
uh for recurrent sinopulary infection and pigmentation and wrinkling can be seen in taxia.
Yes. uh you know uh trophic ulcers in hand port source is to rule out if there's any autonomic uh involvement and uh regards to chest pain palpitation uh there can be some extra neurological manifestation in some types of atexia like uh Frederick's atexia which can manifest with hypertrophic obstructive cardiammyopathy so I asked the system >> okay go to past history >> past history uh the patient gives history of admission at 7 years of age for typhoid with liver enlargement as said by the patient mother for which they took treatment for 1 month and the records were not available to the patient. The patient was admitted at 13 years of age for the for the presenting complaints of the unsteadiness and difficulty in incinating food at the IC board. And uh she was evaluated to have cerebral atrophy and uh the patient was admitted there for 1 month and uh and the mother continued the treatment for 3 months and however she stopped because of no improvement and she had no records of disabling.
The patient does not have is not a known case of any type two diabetes or thyroid disorder, tuberculosis, seizure disorder, uh chronic kidney disease, cerebrovascular accident, malignancy, HIV or syphilis and uh there was no issue of any trauma, major surgeries, blood transmission in the past. There was no history of any recent vaccination uh dog bite or travel.
>> Okay. So uh yeah PH the treatment history >> uh treatment history uh because she felt uh the atexia was not improving with the treatment at ICH uh she again visited native medicine uh consumption which she took two years ago because of a new complaint of amanora from a local clinic at Dharam for 2 months and she discontinued as the patient again mother again noticed no other effect. Uh the patient mother gave no issue of any other chronic uh drug intake apart from this.
>> Okay. The previous uh slide look past history.
>> Yes ma'am.
>> Here there is only typhoid with liver enlargment was said by mother right we don't have any records.
>> Yes.
>> So suppose it was for jaundice. Let's take it like it was for jaundice. Then what will you think of? Will it be very significant history?
>> Uh yes ma'am. a previous uh history of jaundice and now manifesting with an atia I would like to rule out if there is any Wilson's disease which is possible >> or >> maybe that what she's telling should we think of Wilson's also comes in our mind right >> yes ma'am Wilson is a possibility because the age at is also less than 20 years which is how Wilson's person >> so can be a problem or it can be a storage disorder because She complains of liver enlargement uh in the form of any name and pick disease.
>> Yes. So all that we'll have to think of it right. Okay.
>> Then um in the treatment history go to the next slide.
>> Uh yes ma'am.
>> Some uh native medication what is the importance? Heavy metals which can cause taxia that is what we are worried about right?
>> Yes ma'am. So uh heavy metals like uh lead, mercury, bismouth and all of them can cause attacks here. Bismouth especially can cause taxia with myoclonus manifestation. That is why this native is significant.
>> Okay. Which of the drugs no very important which can cause?
>> Yes. uh the drugs can cause uh uh both all acute as well as subaccute as well as chronic uh symmetrical attacks here.
The form of acute attacks here uh drugs like phentoine phenobarbidone uh and antiscychotics like lithium uh can cause acute onset symmetrical attacks.
uh subacute onset uh tax symmetrical attack can be seen with chemotherrapeutic agents like fifurasil citabine and mitoexate uh chronic symmetrical atroxia has also been attributed to fenito as well as long-term usage of amidorone >> so very good so the drug history is very important now alcohol no this patient is not an alcoholic but we see so many alcoholics no in our Importance of alcohol and cerebellar attacks is an important component we should discuss.
>> Uh yes uh um alcohol can also cause uh all all three types of presentation of attack subto in the acute uh due to alcohol intoxication. uh there is a there is a worm suppression where the patient specifically manifest with gate attacks and uh the patient as an alcoholic can have repeated falls. So there can be a subdural hematoma. So they can present with unilateral acute atexia.
uh a subacute uh variety in alcoholics can be due to vitamin nutrition deficiencies like vitamin B12 deficiency manifesting as subaccute combined degeneration of styl or due to vitamin B1 deficiency which is the veric verics and kilopathy which manifest with taxia confusion and of piggia.
uh reference to chronic uh chronic symmetrical attacks can also be caused by alcohol due to uh wormous specific cerebellar degeneration which happen.
>> Very good. So that becomes important when alcohol is the history. So can you go to the next slide?
>> Uh personal history uh the patient consumes a mixed diet with normal bowel and bladder habits. uh she is a non-alcoholic non-smoker. There was no history of any sensitivity to wheat, rye or uh barley and there was no history of any exposure to heavy metals. There was no history of any IV drug abuse. Uh the patient gives history of poor scholastic performance. Uh the sleep and appetite are normal and uh the patient is unmarried at present.
Next uh perinatal history uh the patient uh had a normal vaginal delivery breach and she was a pre-term at 8 months and the mother gives history that she cried 5 minutes after birth and she was kept in niku observation for one day. However the patient attained normal milestones after that she started walking at 1 year and she talked well at 2 years.
>> Okay. Okay. Now what is the importance of pre-term here?
>> Uh will it be relevant to this uh atexia?
>> Pre uh pre-term babies have a risk of perinatal insult which can uh manifest either as a intraventricular hemorrhage or perventricular luccomia. So they can manifest with the dipia type of cerebral calc or uh because of the hypoxia during uh the perinatal they can have a taxi type of CP because of cerebral degeneration which presents in infancy. Uh however in attackic type of CP they will have a delayed milestones after that. Uh in this patient she attained normal milestones >> normal milestones. Okay good. Next.
>> Next to ma'am. Uh the patient attained a at 14 years of age. Uh during which she had only one episode of bleeding lasting for only one day and there was no any other subsequent cycles. So she gave history of secondary.
>> So before going for anything can you quickly uh tell out causes of secondary aminoria?
uh secondary aminoria uh it can either be a hypothalamic cause in the young like this it can be due to anorexia nervosa the stress induced disorder or it can be due to a calman syndrome where there will be associated anosmia uh there is a pitel cause of uh hypoganropic hypogonadism then there can be a hyper prolactinia uh due to either a prolactinoma or due to use of uh antiscychotics in the patient or can be a shehan syndrome where they can present secondary aminoria or uh if there is a ovarian cause of secondary amino it can be a turn or a turn mic syndrome and there are also endocrine causes of secondary like hypothyroidism hypothyroidism and Cushings syndrome >> so we'll have to keep this in mind no now okay continue next >> uh so this is the family history of pedigree chart of the patient. The patient gives a history of similar illness in the sister and uh the patient is born out of a thirdderee consaminous uh marriage.
Uh the the sister uh she was diagnosed with dandy walker syndrome at 3 years of age which they consulted due to the same noticeable walking difficulty. However, she attained menac at 13 years of age with normal flow and cycle still 29 years of age. After which the cycle became irregular and stopped. So she also had a secondary aminoria feature in her. Uh she was over married and uh a mother orally also gave that the sister was also suffering from oscillation of objects which is oelopsia. However, there was added uh slurring of speech component which was seen in the sister and uh she had a tremors and she had difficulty in mixing of the food and she spilled the food when she was trying to eat it and she also had the unsteadiness of walking with the white lip and this was all told by the patient's mother.
>> So okay go to back now the pedigree chart.
>> Yes ma'am. By this pedigree chart, not this exactly but can by pedigree chart can you explain the autosomal recessive pattern and autosomal dominant pattern?
Uh so by pedigree chart uh with this pedigree chart since there is uh if there is an augility and if no other family uh parents are affected and if there is any skip generations that is present then it can be an autotosomal recessive type of inheritance where uh both alles have to be mutated for the uh progeny to manifest the symptoms. uh over in the case of autosomal dominant they will always the one mutant al is enough for the transmission to the next generation and they will have a vertical transmission. So they will always have an affected parent that is present. And one feature of autotosomal dominance is uh variable improper penetrance and variable expression. Uh where the penetrance is uh the proportion of the people with the mutation who manifest the clinical manifestation of the disease. And so uh even if the patient processes the mutated gene they may not express it phenotypically. This can be seen in autosomal dominant disorder. And there can also be a variable uh expression that is a single mutated gene in multiple people can uh manifest with the different uh degrees of expression and different severity which can be seen in automal domain.
>> So what is anticipation? Is there any anticipation here? Uh no ma'am there is no and especially because uh there is no any uh parents or any three generation uh uh who who was pre previously affected with the same cellular attacks ac uh but anticipation is uh is when the offspring manifests the disease earlier than their parents and uh this occurs because of some instability of the gene that occurs during spermioenesis and eugenesis.
And uh the the the syndromes which are more prone to this are the CAG repeat sequences which is notably the scar type 1 2 3 6 12 uh 7 17 and out of this uh the scar type seven has the highest risk of uh anticipation. So even though they are autotosomal dominant uh that is they present after 25 years but due to anticipation they can present even much earlier >> much earlier. So on and off we have seen no the such I think we had one case earlier. Okay. So very good. So this is a pedigree chart is a very important part when we are talking of this hereditary disorders. Okay. Uh next uh can you summarize now? Yes ma'am.
>> So yes ma'am that's summary. uh 31-year-old right-handed female born as a pre-term out of thirdderee tzangless marriage with secondary aminoria presented with inserious onset chronic progressive symmetrical atexia both axial and appendicular involve for the past 18 years with tremulousness of limbs and lower limb distal muscle weakness for the past 5 years with normal speech these symptoms worsen for the past 6 months with the onset of the oscillopsia there No other symptoms suggestive of higher mental function sensory autonomic extra pyramidal or a cranial nerve involvement.
So uh the probable localization with this summary is bilateral pans cerebilar involvement and its connections and uh a peripheral nerve or a root involvement because of the distal muscle weakness manifested as difficulty in insulinating difficulty in gripping the foot into the chapel with a secretus and a hypogonadism because of the secondary aminoria. So the pathology can uh can either be a hereditary degenerative disorder.
And uh so the possibility also which I like to consider is uh an autotosomal recessive atexia like Frederick's at taxia or an attackia or uh there can be a fragile legs tremor at taxexia syndrome or it can be a dandy walker syndrome because the sister was affected the same syndrome or it can be a wills because of history of liver enlargement in the patient and I would still like to rule out uh The reversible causes of cerebular attacks. Yeah. Even though the probable diagnosis here is an erode regenerative and uh the possible causes are hypothyroidism, vitamin E deficiency, uh gluten attacks. Yeah. And because of the multi system involvement that can be a hemocchromattosis and because of the intake of native medicines that can be heavy metal poisoning overlapping the herto.
>> So now for pans cerebellar can you explain why did you say symptoms?
uh pan cerebilar uh the patient had unsteadiness while walking with swaying and it was not associated with any vertigo or exaggeration in the dark uh which localizes it to vermis as gate atexia. The patient had osteolopsia and looking up which can probably be a upbeat disturbance that localizes to vermis and the patient also had difficulty negotiating narrow pathways probably due to wide base stance which also localized to a verness or the p value cerebrum. The patient gave history of difficulty in inserting the foot into the slippers and difficulty in reaching the objects. So they had a dataxia with the dismetry and disinergia. So there was a cerebilar hemisphere of neo cerebilum involvement. The patient gave history of tremorlessness or leing objects. So there is an intentional tremor present. So there is an output pathway of dentatoralamocortical which is involved. The patient gave history of osteopsia at primary fixation itself. So there was this which was present. So probably the for which cerebrum is also involved.
So suppose if only pedunk is involved what will be the manifestation if only peduncle is affected.
>> So if uh if only the pedunk is involved then there won't be any manifestation of disartria or distagmus and it will usually have a unateral presentation.
For example the superior cerebellar pedil will manifest with ipsilateral limb atexia. A middle cerebular pedunk because of corticopontis can present with ipsilateral uh limb and gate atexia whereas inferior cerebular pedunk if affected like in lateral metalary syndrome or cj junction abnormality they can have limb atexia but due to its close proximity with the lower pan there can be a lower pany with associated plul involvement so sometimes there can be vertigo which can be present So now the dandy walker is a CV junction anomaly right? So what are some tell me some other conditions where there'll be CV junction anomalies.
>> So uh CV junctions can either have a soft tissue uh CV junction or a bony component of CV junction abnormality.
soft tissue is mainly the dandwalk malf for which is characterized by a genesis of the cerebilaris with the cystic dilotation of the fourth ventricle with prominent posterior pa.
Uh another soft tissue component of cjunction is not carry malfformation where the type one usually presents with herniation of cerebellar tonsils where there'll be sigomia with dissociative sensory loss. uh type two arc usually presents with her herniation of both the cerebellar vermis and the brain stem where there will be a myo meaning uh if there is a bony uh CV junction abnormality then the patient can have a o oxipital uh assimilation or baseline imagination or uh there can be atlanto oxygen instability secondary to rheumatoid arthritis and if there is a bony deformity the patient can then present with quadriplegia uh and lower cranial paly. However the soft tissue like unl is involved the patient will have predominantly cerebilaria like manifestation.
>> Since this patient is presented from 13 years of age I think on examination we'll have to look for low hairline all that becomes an important component. So when we know about this we can you know we can go and examine appropriately. Now just before going for general examination just broadly classify cerebellar retaxi and then we'll go on for the examination.
uh cerebilarexia is divided either it is acute subcut or chronic and whether it isal or bilateral. Uh if there is an acute uh symmetrical attack that can be seen in alcohol intoxication or due to the drugs like pentoine pheninoarbone or due to acute cerebilitis secondary to EBB, CMV, HSV, varicella. If there is a focal or ipsilateral acute type of cerebular atexia can be due to a cereal subdural hematoma or an infact or a cerebellar hemorrhage or it can be due to some infectious cause like cerebellar absis. Uh if there is a subaccute onset of cellular atexia a symmetrical variety then it can be due to a toxins uh like mercury and uh gasoline and solvents or it can be due to nutritional deficiency like vitamin B1 deficiency and B12 deficiency.
Uh and there can be a chemotherapic agents which can cause subaccute citical attacks. With reference to subacute uh focal type of attacksia there can be neoplasms like medalloplastoma lyoma or there can be demalination like multiple sclerosis acute disseminated enkifiitis or there can be age related progressive multiple luccoathy due to JC virus that affects only one cerebular endosphere and if there is a chronic uh symmetrical attacks here then there can be a paranoplastic uh syndrome causing cerebellar degeneration.
Or there can be anticliadin antibbody induced or hypothyroidism.
Uh and all the hero degenerative condition causes chronic cylindrical attacks. And uh one infective cause will be a table dosalis.
uh if there is a chronic uh uh focal type of attacks here then it can be due to this uh structural abnormalities like Dandy Walker uh syndrome or due to previous uh glyiosis due to uh previous infact or multiple sclerosis induced develation these are the broad categories >> so unilateral aexia main you should remember is absess vascular space occupying leion no presenting as unilateral so this and acute onset We should always remember simple like infection, trauma, vascular demilinating and drugs and of course even highgrade fever they may rarely present with no features suggest you have cerebellar attacks. Yeah. Now all these why it's important is all these are treatable costs before going and labeling them as degenerative costs. So before going for this hereditary or DJ tip we should always try to pick up any you know like >> reversible causes that is the basic aim with all this discussion. So, so sir shall we go for examination?
>> Okay, please.
>> Yes. Oh, thank you sir. Desh, can you start your presentation?
>> Good evening ma'am. I'm audible ma'am.
>> Yes. Yes, you are audible. Please.
>> Uh, going for examination, general examination. The patient is conscious and cooperative. Uh, she was oriented to time, place, and person. She's a right-handed individual moderately built and nourished. Uh there was hypertism which is the increased distance between the inner canthus of eyes. The dentition was poor. Uh there was no parasis clubbing padma lymphopmpathy. There were no neurocitinis markers. There were no external markers of tuberculosis HIV.
There was no goer or thyroid enlargement.
Moving to head to foot examination. uh hair was normal. On examination of eyes, there was gay evoke mixagus present in both eyes. There was no tosses. Uh pupils were round regular 3 mm equally equal in size. There was no K ring visualized. No cats. There were no teners in the conjectivis.
There was no bonial lines in the gums.
There were no orange tonsils. There was no mis lines. There was no hyperpigmented knuckles, raindrop pigmentation, perpuric lesions, dry flaky skins. Uh there were no thickening of nerves. There are no tendons and there was high arched food. There was no ky fores and scoliosis.
Uh moving to vital parameters, the pulse rate was 78 per minute. It was regular rhythm, normal volume pulse. Uh parable non-p peripheral vessels. There were no radio or radio. The vessel wall was normal. There was no specific character.
Uh there was no coroted or blue.
BP measured in right arm in supine position was 12880 mm. See uh in supine position. After standing for 3 minutes the uh right arm BP measurement was 1280. There was no orthostatic hypotension.
Respirate rate was 16 per minute.
Regular rhythm took abdominal type of respiration. Temperature was 98.4° F.
Anthropometry height was 139.5 cm. Uh the mid uh which was less than minus3 standard deviation. The midparental height was also calculated which was 152 cm which was also less than -2 standard deviation but she was still short stature comparing the parental height weight was 50 51.4 kg. Uh the BMI calculator was 26.41. 41. Uh the height neck ratio was 13.5 cm.
Uh since he had a history of a secondary ammonia, ASMR staging was done which showed a uh staging breast three and a pubic hair of one.
Uh moving. Yes.
>> No, no. Now we'll go to the general examination. Just go back there.
>> Now important thing you said was uh hyperarism, right?
>> Yes. Can you tell me causes of hyper tailorism?
>> Hyperellerism is the increased distance between the inner canthus of face. Uh it usually can happen in development cranopacial development of the skull deformities and then some other conditions like digestion digest syndromes and all can be done.
>> Okay. Uh there's no generalized lympadinopathy. Next slide.
Okay. Now suppose if there is lifinopathy in an atexia patient. Yes.
What is your say on it?
>> Uh if the patient present with acute cere cerebilitis like features uh with the fngitis uh infectious causes like EB CME can present with the lymphopathies.
uh another cause of lympodinopathy can be HIV since it is associated with taxi also and and tuberculosis is another cause of lympodinopathy and uh lymphoma can also present with uh atexia uh or some other malignancies can be present with the parano >> so neurocitaneous markers with relevance to our case uh neurocitinis markers and neurop fibramomas neuropro type one can cafe spots neurop fibramas axillary frecklings and in ice can be seen now and in tuberous sclerosis facial angio fibramas as macules shag green patch perangal fibrosis can be seen in taxia telasius telenas can be seen in conjectiv Yes.
>> Yes. Yes. Continue.
>> Yes.
Port main can be seen.
>> Okay. Now, external markers for HIV, TB, syphilis. No, specifically we looked for it.
>> What is the >> um HIV can uh present cell with atexia uh progressive multif focal liquidy or lymphoma. uh markers of HIV. We look for uh lympadopathy can be present and other infections like candidasis herpes uh oral harinucopia um capos saroma condos and saboric dermatitis. Uh these can be seen um uh markers of T tuberculosis. Um uh in ice we can look forward conjectivities tuberculosis. Uh then we can see for TBO absesses. uh in skin we can see for uh lupus which are and ethimonosome can be seen seen in the over the shin external mark of cis can also present asexia gum mas can be seen uh uh genital ulcers history and uh uh saddle nose history uh Pal genital warts or palmer plantar rashes can be seen.
>> Okay. Uh head to foot examination. No.
>> Uhhuh.
>> Can you describe what all you have said?
No. What did you look for?
>> Um early growing of hair or curly and hair early growing of hair and curly hair can be seen proger symptoms. No.
>> Yes. Um then I I findings um Kings cats can be seen in Wilson's disease. Tels can be seen in attacks.
Key losses can be seen in between B deficiencies ma'am. U then Bon lines can be seen in lead poisonings ma'am. uh which are also cause of uh which are also cause of attackas due to toxins. Orange tons are seen in tang disease manage meines are seen in arsenic poisonings.
Uh hyperpigmental can be seen in vitamin B12 deficiencies.
Then uh thickening of nerves can be seen in repsums disease. Amalidosis uh food can be seen in predictas tyoscolosis can also be seen in predictas.
>> How will you look for the specus? How do you check for it?
>> Uh ma'am the medial long arch will be exaggerated. Uh then if they keep the footprint uh the uh gap between the proximal and the distal height for foot and the hind foot will be more the mid foot imprint will be lost when we keep the footprint.
>> Yes. So you'll have to take the mark right?
>> Yes ma'am.
>> So now going for vitals.
>> Yes ma'am.
>> Now here everything is normal. So what is the importance of pulse? Importance of BP and temperature >> in some types of uh attacks automal recessive attacks uh can present with the uh conductional abnormalities cardiovascular manifestations uh which is seen in predator attack almost around 90% of attack patients will cardiovascular manifestations so conduction of rhythm atrial fibrillations can be seen other arithmas can be seen uh pulse then BP uh arthostatic hypotension uh amidosis can present with orthostatic hypertension due to involvement of autonomic nervous system and uh diabetic neuropathy can also present with the orthostatic hypertension but it is not present in our patient.
Temperature >> uh temperature if it is an acute presentation uh we can look for infectious causes cerebrolitis uh can present with fever uh if uh hypothyroidism can present with a cold uh periphery hypothism.
>> Okay. Uh uh this uh next >> anthropometric >> importance of height ratio. So this SMR staging here especially we have no tell something about >> uh high attacks uh hypotherism will have a developmental short stages and progress will have a short stages mitochondrial uh diseases will also have short stages.
Then uh SMR staging this patient has a uh breath staging of three map and which is only enlargement of breast and areola with no separation of contour and there was no pubic hair. So the summer stage of ubare was one.
>> So hypoganism is there. No >> hypog height make ratio importance very important. No.
>> Uh yes ma'am.
uh it can be seen in uh bony abnormal like uh CV junction anomaly shows height ratio differences and ky mal formations can present with the height increase triple fail syndrome also can present with the ratio abnormalities >> when do you say low hairline No hairline. No.
>> No.
>> And when it is before below C74 up to C4 can be normal.
>> Yes. Yes. Below that. No. We'll have to look and there is a CV junction anomaly and all. No, we'll have to look for it.
>> Okay. Now we'll go for CNS examination.
nervous system examination. Uh higher mental function uh she's right-handed individual. She's conscious or into time, place and person. Uh immediate recent remote memory was intact. Uh speech and language uh she was able to comprehend. Uh fluency was intact.
Repetition was also intact. Uh she was able to name objects, read and write. Uh there was no uh delion or deficiency.
Next minmental chis examination uh this is 29 out of 13 u examinations.
>> No no no before that uh higher mental function uh here the patient is mentation is normal. So importance of higher mental function >> with relevance to attacks. Yeah.
>> Um some uh attacks here can present with the cognitive dysfunctions. uh uh spinocular tax uh at 123 and DRPLM dentroucian tax can present cognitive dysfunctions >> cerebral >> hypothyroid cereal paly hypothyroidism.
>> So there are a lot of things then uh what type of speech cerebell are involvement. So what speech are we expecting here? Uh speech can be st speech or uh scanning type of speech. Uh which is can you scanning and stato?
>> Yes ma'am. Uh scanning type of speech there will be broken syllables. Uh and with in stato type of speech there will be explosive breaking of each syllables.
>> So MMSE score here it is 29.
>> Yes ma'am.
So where has this patient lost here?
>> Uh ma'am uh in a recall she has three scores. Uh she's not able to recall one that's otherwise fair cognitive functions good.
>> Okay. So cognitive uh so can you just summarize cognitive dysfunction in atexia?
And cognitive dysfunction inexia uh it can occur with the hypothyroidism and cerebral spinal attackas and 10 to lucian tax it usually has score of 13 patient has 29.
>> Okay here good only right? Yes ma'am. So going to cranial nurse.
>> Yes. Cranial examination. Uh alpatic nerve she's able to persist uh in both nostrils. Optic nerve uh the visual is 20 by 25 in both eyes. Field of vision color vision and pus examination was normal. And third, fourth and sixth grade extraord there was gay gaze in both eyes. Uh there was also upbeat diagnosis. The sate however the circates and pursuits were normal. Uh the direct and indirect reflex were present. Uh there was no tossis. The accom accommodation reflex was present.
Uh no >> cranial loss. Is there any abnormality in all the other cranial nerves? Uh no ma'am other cranial are normal.
>> So now cranial nerve involvement with a taxius each cranial nerve. Can you just describe? Ah uh yes ma'am in uh uh optic now optic atropies can be seen in uh fric attacks uh spino cerebras 7 and retinitis pigmentotosis can be seen in uh spinobexia 7 rips disease a betroin uh if it is an acute unilateral attack so sometimes stroke involving lateral syndrome can present with nth cranial. Uh if there's CP angulation, it can involve eighth cranial and seven variant of GBS can involve third, fourth, sixth graphic syndrome. Uh vnik sensory can also present withia naxium.
Then is >> so importance of looking but here we had only the nestagmus which was there otherwise all that and fundus was basically normal no optic >> there was no retinitis pigmentotosa no features right okay >> moving to >> yeah please shall we proceed motor exam proceed now proceed proceed A motor examination. The patient was examined sitting position. Bilateral ups were on the side of the body. Uh the lower limbs were flexed the knee joints.
Uh legs hanging at the from the edge of the bed. There were no upper and muscle wasting. There were no face equations.
>> Uh bulk uh there was no wasting.
>> It is equal, right?
>> Yes ma'am. There's no wasting which is equal in both uh tone uh in upper limb and lower limb and both sides the tone is decreased. Hypotonia is present in all four limbs power in upper limb uh shoulder flexion extension adduction abduction on both sides is 5 by 5. uh in elbow in a flexion extension pronation is 5 by five in both hands.
In wrist also both sides are normal and more lower limbs uh hip flexion extension adduction abduction rotation intern rotation were 5 by five. Knee uh in both legs flexion extension were 5x 5. power in ankle and the power was 4x five in the os plant inversion and >> so except for the ankle all the others were >> normal the weakness and unsteadiness uh is not due to uh weakness of proximal muscles or distal musles >> yes >> the power of normal >> yes only the ankle there is four bar five otherwise all the others are normal >> yes >> yes Okay. Next.
>> Uh moving to reflexes. Superficial reflexes. Uh corial conjunctal fingial pal reflexes are present on both sides.
Now however abdominal reflexes was absent plant was extensor in both flex both uh sign of human involvement was also there in the special. Uh deep flexes joic was absent. Um biceps triceps super biceps was three plus in both sides.
Triceps was also three plus in both sides. Superator was two plus. Finger flexion was present. Moving to reflexes of the lower limb. Uh since there was hypotonia, there was a pendular kneejerk was present in both legs. Uh video of this is showed in the uh upcoming slides. Uh the ankle reflex was one plus uh uh plant equivalent of the upper limb offment traumas reflex are absent. Our water reflex was present. Umental level snout reflexes are general reflex are absent.
Moving to sensory system to the sensory.
Okay. Go back. Yes.
>> Phot there is hypotonia here first. H yes ma'am.
>> Why hypotonia in cerebellar disorders?
Tell the there is a decreased activity of the gamma motor neuron and uh uh cerebral leations. Uh so leading to decreased muscle spindle activity which leads to reduced muscle tone. uh and there's impaired SH flex uh regulations which uh uh cerebrum plays important role in regulating of the flex.
>> Can you have hypertonia in cerebellar disorder?
>> Uh usually in cerebral leations you get hypotonia only. uh if there is a added there's hypertonia we should think of uh uh involvement of human lesions or extra primal or extra extra primal drugs can be seen yes >> yes so we'll have to think whether it's a pyramidal or extra pyramidal so that is important then um going to the plant or extensor >> yes >> so now causes of plant or extensor in atexia itexia patient But planter extensor >> uh yes the involvement of human can produce extens of plant can be seen in spinocular attacks. Yes attacks yes multiple scerosis can also present with extensor planters due to human involvement.
>> So extensor planter with absent reflexes what are the causes?
>> Uh usually element will produce absent reflexes.
So uh the nerve or muscle involvement can produce uh absent reflexes uh which can be seen in subet combined degeneration uh due to vitamin B12 deficiency. Uh predictas in which there is involvement of nerves also neuropathy also and tab do can also uh present with uh extensive human with absent reflexes.
>> Okay. Uh now uh one more before going to the next I findings with atexia with relevance to atexia because we had this mbus no >> yes uh ma'am uh in Wilson disease we can see for sunflower cat rings >> yes >> inia talents we can see for tel there can be histagas uh square wave js uh uh slowing of circuits broken pursuits of theoparasis aomraxius and then fundus examination >> yes fundus what will you say again because it's very important no >> optic at troprophy can be seen in scar and fricatas retin pigmentotosa can be seen absence dis and scar 7% plus can also be seen in scar seven >> okay so that is very important and uh suppose fifth nerve enrollment Trimminal neuralgia multiple sclerosis seventh now CP handle tumor eighth now veterans you should think of 9th 10th 11th apart from your lateral media think of this craniotebral junction anomalies so all that is very important so we'll go to the sensory next >> yes ma'am sensory sensory exam yes ma'am sensory exam is not normal there were no >> we'll go to the cerebellar yeah we'll go to cerebellar >> coordination Yeah.
>> Yes. Uh finger no test was normal except for the intentional tremor was present on uh doing the finger no test. In finger finger no testice there was a dismater and distinia was absent. However in lower limb he chest was impaired on both sides. Uh drawing a circle she was not able to draw a circle in the lower limb.
Uh examinum tubation was absent. There was no trunk attack.
However, the stance was wide based stance. Gate attack. She was able to walk with wide based gate uh with the swaying to both sides due to which she was having recurrent falls.
There was gay mistas and there was also a bit nagas. The sad and pursuits were normal. Uh there were intentional tremors was present in both side uh both eyes both hands. Uh there was no stator or scan disa was not present. Uh hypotonia was present. Pendula nej was present. There was uh reborn phenomenon.
Uh ra's test was negative.
>> Okay. So uh suppose if there is tubation is there previously.
>> No ma'am there was no dubation. If tubation is present what where will you localize? uh uh if present we can localize it to worm is which is responsible maintenance of the posture of the uh trunk and uh then uh nestagmus what is nestagmas and what are the types it's a involuntary rhythmic uh oscillations present in the It can be horizontal distagmas uh which can be seen in peripheral stagmas. Uh it can be vertical distagmas and can be also rotatory or uh torsales.
>> Good.
In yes upbeat down bites can also be there in but in cerebulum we will get update can be seen in brain stem alions and peripheral centralus can also we can class in.
>> Oh yeah differentiate central and just few points you tell. Uh peripheral nistagmas is usually horizontal can sometimes present with rotary component but central nagmas can present with horizontal vertical or direction changing can be there. Uh yes peripheral stagmas is usually unidirectional and it is predigable.
>> Uh central stagmas is nonpigable.
>> Uh can be suppressed. Peripheral stagmas can be suppressed by fixating the eyes.
uh but centralus um it will be not be suppressed by fixations that in central there will be associated neurological defics involvement of other cranial nerves can be there >> okay now that dismatria next no dysmmetria disin can you tell define those terms >> uh ma'am usually in dysmmetriia we'll see in the uh finger nose test uh finger finger most dismability to properly control the range of movements.
It will be at a desired level. That is the definition of dismantria.
>> Yes.
>> It is because they cannot judge distance, speed, power of movement.
Yeah. The coordination component. What is this energy?
>> Uh um it is due to the uh loss of coordinated activity of different muscle antagonist and agonist group of muscles.
There loss of coordination between the aonist and antagonist muscles.
>> Very good. So it's a defective coordination of various group of muscles participating in a movement leading to decomposition of movements into its component. That is why you have a disin limb equivalent.
>> Distin is enable to perform a rapid alternating movements.
>> Yes.
>> Yeah. Usually you see the pronation superance of the hand. But a lower limb equapping of the feet rapid tapping.
And uh flex and plant flexction alternating movements of the foot.
>> Very good. Very good. Okay. What is the gate here? Next.
>> Uh gate is a white based gate with playing to both sides.
>> Okay. Can you what are the phases of gate cycle? Can you just uh tell?
>> Uh ma'am the faces there are two phases of gate map. uh stance phase and swing phase m in stance phase uh uh there will be first we will strike the heel heel strike then the foots become flat and then we'll be in the midstance position then uh the he will take off the heel then the toe will take off uh this is pre- swing when the toe takes off uh then in swing phase uh there will initial swing mid swing and terminal swing In the initial swing you'll keep that uh uh uh acceleration will be there in the initial swing.
>> Okay.
>> And terminal swing there will uh uh deceleration will be there.
>> Okay. Okay. Now different types of gate before we go for next >> since we speak aboutic gate as you see in this patient uh cereal attack can wide based staggering gate which is going to sit >> yes >> in sensory attacks yes as discussed there high stamping gate the patient needs can't perceive the depth needs visual uh cue to place the uh legs m so he will take the legs high and keep the leg uh with the stamping sounds. Uh so there will be stamping type of it. U then parking it will be short suffling type of gate with the festine gate. Um then in hemoplegic gate we can get in uh tiboras and patient circumduction gate can be seen uh in food drop we can get a high stepping weight. Okay.
>> Other system here. Other system examination.
>> Can I play the video >> before that? Yes. Yes. Videos. Just show the videos.
Describe doctor.
Um this patient present with box with wide based gate to maintain the uh postm. However, the swaying is uh uh only minimal in this video. But uh you see she's able to sway. Uh there's swaying but it is not she's able to maintain the posture with walking with wide base.
Uh this is a finger nose finger finger nose there's a dismater with intentional tremors present.
>> Okay.
U this first video shows a rebound phenomenon and there's reborn phenomenon is the not the decide the moment in the desired face is not restricted due to the inactivity of the antagonist group of muscle is not coordinated. So the moment in the decide range is exactly this pendul patient with cereable distance in a diseases uh two and four motions move mments with more than three uh more than four uh at the primary case there is no stance for this specimen but on that gives stance and uh both sides and there beating mix also first uh initially in cerebralis the first component will be to the side of the leion He's not able to draw the pentagon intersections.
However, there's no macro gap here will be usually present but she's she was able to write her name without there's no change in new change in handwriting.
uh autonominal system there was no postal hypertension or tiaria there was no trophic changes uh many menial there was no stiffness design there extra symptoms were not present normal panium there was no spinal deformities uses of kosis uh cardio system First second house sounds were present. There was no murmur or added sounds. RS system examination by later normal viscular breath sounds were there was no added sounds. Abdomen examination abdomen was soft there was no organ.
>> So cardiovascular system and abdomen importance before going for localization.
uh I'm since in this patient um since the onset of atexia was less than 25 years of age autotosomal receive taxius can be differential diagnosis uh so in autosomal recessive attackas pistoax is the most common cause of autosomal resaxius in pisto around almost 90% of the patient present with cardiovascular manifestations uh hypotropic cardiammyopathies arymas can be there. So there was no arithmas there aical impulse was also there was no shifting of aical impulse and amalosis can present with the autonomic involve the autonomic nervous system and present with hypotension.
Okay. Okay. Sir, sir, you want to ask something sir?
>> Nothing madam. Any se case discussion be more than madam?
>> No more discussion.
>> How do you expect me to ask questions?
Completely dissecting the subject into different small small parts and asking all the questions. Madam there's no additional questions to ask. You prepare the students also very well. I think I should appreciate both uh uh what do you call DH Kumar and Sudash for nice presentation and nice answering also.
Please go ahead get madam.
>> Okay. Okay. Continue D.
>> Yes ma'am. Next moving to the final localization diagnosis born out of third degree cancing sister with secondary ammonia presented with the bilateral uh chronic symmetrical atexia with gate and appendicular involvement intentional tremors and incoordination with the hypotonia exaggerated deep tendon reflexes and pendalon inject with normal joint position sense and vibration sense in the lower limb with the preserved pain temperature touch without involvement of higher mental function.
Uh cranes autonomic and extra symptoms system. Uh the structures involved after uh examination is bilateral cerebral hemisphere uh as evidenced by gate and appendicular involvement and intentional tremors and vermis and block or lo involvement. It is a pan cerebral environment and its connections uh and is cartic spinal tract as evidenced by the extensive plantar and increased exaggerated deep tender to flexes in both upper and lower lim and hypoganisms.
The differential diagnosis this at this time would be can be a spinocular involvement spinocular at taxia since there is a cable at taxia with the human features score one two three then since the age of presentation is less than spino age of presentation is less than 25 years of age automal recessive tax like atypical fisexas can also be a differential diagnosis And atexia with utmy deficiency can be also be diagnosed. And autotosomal recessive atexia uh can also different diagnosis and fragile tremor at taxexia syndrome can also be different diagnosis. However, a reversible cause of attackia like hypotharism laxin atexia should also be kept as a different diagnos which can worsen the already existing uh tax.
>> So what uh this one for Frederick ataxia?
>> Yes ma'am.
>> In your DD what are the points? It is not a typical case right? It is an atypicalation.
>> Yes ma'am. Uh >> so can you tell me something?
>> Sinceia since the age of presentation is less than 25 years of age we should think of autotosomal recessive tax in which picatax is the most common cause of autosomal recessive attacks. So we kept pic as a difference diagnosis.
However the reflexes were not absent ma'am. Uh-huh.
>> Yes.
>> It was the reflexes was exaggerated and there was no sensory loss present in this patient. So it can be atypical nerve involvement was there.
>> It's not ficting in there is some hypoganism also is there.
>> Yes ma'am.
>> But anyway we'll talk about again the treatable causes. Tell the treatable causes of itaxia.
>> Uh nutritional causes like vitamin B deficiency, vitamin E, vitamin B1 deficiencies. uh drug induced attacks like penotin amodone benzoipines and uh chemotherapy agents like um pactic taxel can be there hypothyroidism can be there in acute causes acute cerilitis can present attack then tumors can also be >> associated with taxius Yes. Yes. Uh malignancies paranoplastic causes of taxas we see in patients with the lung breast and ovarian carcinomaomas.
>> So we'll have to yeah any patient you have to look for all these treatable cause. Yeah. So that is the most important thing. Can you go to the investigation?
>> Yes ma'am. uh on investigation we'll do a complete blood count a peripheral smear uh to r if there is any aantoyosis as an epmia renal function test and the baseline liver function test to r any disease ECG to rule out any conduction abnormalities and chest x-ray basic vitamin E B1 B12 levels uh thyroid function test and anti to rule out hypothyroidism and steroid response and kelitus with motor styitis MRI brain with spine screening uh USG abdomen since she had hypogonatism and serum FSH LH to rule out if it is hyperonotropic or hypogonotropic causing and AFP levels to see if it is attacks any beated and serumon levels which are elevated in cereotis uh nerve conduction study to rule out if there is any presence of peripheral neuropathy and uh then specific mutation analysis But auto attack what will have genetic mutation.
>> Uh we can have the effects and uh gene mutation and it is located on chromosome 9.
So that can be it's a typical nucleide repeat sequence defect where there will be GAA repeat nucleotide sequencing that results in some mitochondria dension.
Very important. Next. Autoimmune. No.
Okay. Our patient what?
>> For our patient all the causes all the all the routine investigations negative vitamin B12 levels were done which was normal. uh the thyroid function was done which was uh normal and uh the FSH uh assured it was increased and LH was increased with the serum free testosterone android which was uh decreased indicating a hyper gonadotropic hypogonadism manifestation in this patient was normal uh USG abdomen in this patient showed a infantile uterus and the bilateral ovaries were not visualized for which we did the MRI that showed a leftsided streak ovaries with infant uterus. The NC was very clear.
>> Okay. Now uh in MRI what are the imaging findings in scar? We will not deviate to this hypoganism now. Uh this patient yeah sure >> this patient had a diffuse cereal atrophy involving the anterior as well as the posterior vermus and the cerebellar hemisphere with the normal cervical cord without any trophy.
uh was a bilateral cerebular atrophy was given in uh in my spino cerebellar attacks.
Yeah. Uh there are some pure cerebilar variants uh like six v six which is benign variant where there'll be only pure cereal involvement. uh however the the there can be also pyramidal involvement where there can be a break stem atrophy in the MR which we can see in one star one two uh three and seven where there will be pyramidal uh pattern of involvement on clinical examination.
uh the classical uh hot cross uh bun sign which we can see in the multiple system atrophy C type is also seen in scar 2 uh because of the corticopontation uh whereas bilateral middle cerebular hyper intensity can be seen in next tremor atia which is DD in this >> okay so now we'll go back to our normal exam question. What is the most common type of scar worldwide and in India?
>> Most common type of scar worldwide is type three which is mad Joseph disease.
Uh in India it is scar type two that is associated with slow circles also called as oil and bath where there will be a kind of rigid manifestation. There can be some Parkinson type manifestation.
Scar 2 is more common in India.
>> So what is the classification for scar?
Spinocular attack we use the harding classification where the type one represents atexia plus syndrome where taxia is associated with other uh uh neural extra non-erear signs and next will be the type two where is associated with the visual symptoms like retinitis pigment or some macular degeneration which is seen in scar 7. Uh the type three is the pure uh cellular variant of SLA which is seen in SCAR 5 6 and 11.
>> So our case scar 3 is it possible? This will probably start because micro joseph has involvement of cerebellar atexia along with pyramidal pattern of presence but uh as such hypogonatism uh has not been associated at taxia when I went through literature only scar 7 was seen to be associated with hypognatism in few reports.
>> So genetics has been sent is it for this patient? Yes, major analysis is sent and the carotyping was also done for the street over the reports are pending.
>> Reports pending. So what is this? Uh Lincoln at taxexia.
>> Lincoln attack car type five.
>> Okay. Now tell me the treatment for this patient and generally we'll talk. uh the treatment uh treatment comes in counseling of the patient about the heredit degenerative condition of this uh of the condition you're suspecting and next we need to give a rehabilitation the form of uh gate training and there should be physiootherapy and we should give vitamin supplements like vitamin C and vitamin E uh since always we need to reversible cause of attack even in a long-standing uh degenerative observer So non-farmacological management is >> uh this is the non-farmacological examinations. So Frankles frankles exercises have been coming up as uh uh where there is a visual guided uh uh exercise that the patient does. It is basically a mimic of what we do in a cereical examination which is shin test and finger finger nosis where the patient is made to do uh repetitive visual guided uh movements to improve the cerebellar function.
>> Okay. I think we have covered everything. Seran sir if you want to add something sir.
>> Very nicely covered madam. every aspect of the exam oriented practical points also covered by you madam including the treatment >> so we didn't go much in hyperat okay sir >> yeah everything has been covered by >> hello sir hello yes sir m covered I think covered up everything mam no issues at all I think it's uh everything disc I think. Yeah. We'll wind up the discussion madam. Yeah.
Hello.
>> Okay.
Yes sir.
>> Can you hear? Yeah. Can you hear me madam? Yeah.
>> Yes sir. You're audible sir.
>> Yeah. Yeah. I think everything is covered.
Call it a day madam. Shall we close the session and really Yeah. Thank you madam. Thank you for nicely discussion on as usual the CNS case bionaxi approach and it's also covered with other aspects of coexisting hypogonadism also discussed by madam nicely presented by Dr. Sudash and DH Kumar really appreciate both of your nice preparation as well as the presentation >> and thank you for Institute of Inter Medicine for participating this this evening. Thank you everyone of you. Good night to all of you. Thank you.
>> Thank you sir. Good night sir. Thank you and excellent presentation at both the pages.
>> Thank you. Thank you ma'am.
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