PG CLUB

[00:00:08]is no way.

[00:00:26]Okay. Okay.

[00:00:28]Seriously, okay. Okay.

[00:01:17]Maschu Good afternoon everyone. Welcome to today's APG club. Today we have a case discussion on chronic liver disease and uh we are privileged to have two eminent faculty members with us. Ajit Krishna Sar professor and head of department of pediatrics medical college kolam and Dr. Shaasar professor department of pediatrics sat hospital government medical college both our discussions are outstanding academian and need no for formal introduction and our today's uh mentor is Dr. Suran Rosa from SAT hospital and our presenter is Dr. I know he's a second year junior resident from SAT hospital and this is his first formal case presentation so I think he's little bit nervous but uh our final year JR3s are here to answer all the questions I think and I think uh without further delay let's begin today's test session sir can call yeah >> yeah good evening all respected Dr. Gopiga the present a troand Dr. Sjits and Dr. Moas our PG teaching coordinator program coordinator and Dr. Shana scientific coordinator and Dr. Sujit Saon coordinator and other office berator Dr. Gopy Dr. Binout and respected seniors Dr. Krishamar and today's discussions Dr. Ajits Dr. Shavas and mentor Dr. Suresh Babu and presenter Dr. Anu Joseph at the outset let me congratulate the team PG club team led by Dr. Moas and Dr. for regularly conducting very useful topic which is useful not only for PGs but also even for practicing pediatricians and I congratulate I bet for hosting today's meeting and today we have a very important discussion that is chronic liver disease which is important for theory practical as well as your practice point of view so without wasting time directly to Dr. Sujits for further proceedings. I wish all the very best for this program. Happy learning.

[00:03:55]Thank you all.

[00:03:57]>> Okay. I now invite Dr. Anu to pro present the case. I know >> uh sir >> screen share it.

[00:04:18]>> Okay. Okay.

[00:04:19]>> Okay. So good evening everyone starting the case presentation for today. So patient details name Nanit Kumaran a 4 and a half year old male child coming from Madi the date of birth was on 410 2021 the date of admission was on 16 2026 and the date of examination the next day 26 2026 the history was narrated by the father which was fairly reliable.

[00:04:44]So the presenting complaints shows a deepening in the existing yellowish discoloration of the eyes and skin for the past 3 months and persisting itching since the past 3 months. So since the child is having significant history from infancy, I would like to start from the antiatal period.

[00:05:02]So the antiatal history is a third child of a second degree consign. The pregnancy was booked in a local hospital mate. In the first trimester the folic acid tablet was taken. There was no history of any fever with Rash. Second trimester all the scans were taken. The anomaly scan was taken and it was told to be normal. Two doses of the TD vaccin was taken. Ion folic acid tablets were taken. There was no gestational diabetes mealus or gestational hypertension. In the third trimester there was no history of fever, no history of UTI, no history of blood transfusions, no history of itching and there was good weight gain as per the father.

[00:05:41]Then natal history the baby was born as a term baby via LS in view of a previous LCS and the birth weight was 2.3 kg he was an SGA baby the baby cried soon after birth there was no history of neonatal jaundice there was no history of neonatal hypoglycemia neonatal seizures no of neonatal sepsis no history of any UTI or no any history of an state the breastfeeding was initiated within the first hour itself and the child was discharged on postnatal day 10 because the mother had a surgical sight infection. The baby was active throughout the hospital stay and the birth vaccines were also taken and in the immediate postnatal period the baby was continued on direct breastfeeding.

[00:06:21]There was good general movements and activity. No jaundice or poor weight gain was noted and the baby had pass meonium and urine within the first 24 hours.

[00:06:31]And at 6 months of age, the baby was found to have yellowish discoloration of eyes, intermittent pale stool and dark colored urine. And there was also bluish patches of sk bluish patches covering the skin involving the shoulder, knee, the lateral part of the abdomen and the palms. There was no history of fever, rashes, persistent voming. There was no history of altered sensorium or seizures. There is no history of any developmental delay. There is no history of any abdominal distension. There is no history of any peculiar order of urine or body. There is no history of passing oily bulky stools. A child was initially taken to Madre Medical College and the child had received IV medications and blood blood components were given. The parents were informed that the child had a disorder in the blood and was advised that the child may need injections and the possibility of recurrence of such similar bluish color patches was explained to the father and the doctor had also informed the father that the baby is having poor weight gain and the symptoms the presenting complaints had subsided during the IP state itself and once again at 1 and a half years of age the same symptoms occur. The child was found to have yellowish discoloration of eyes, dark colored urine, itching all over the body and associated loose stools pale in color. There was no history of vomiting. There was no history of seizures or any altered sensorium. And the child was once again admitted at Mad Medical College and was given IV fluids and medications and was after about one week was distant vitamin supplementations and was given another medication which was told to the parents that would reduce the yellowish discoloration.

[00:08:07]Over the next two months the symptoms subsided and the baby improved and after that the child was on irregular followup. The father had also noticed that the baby was having persistently poor weight gain and at 3 years of age the baby had another episode of fever, loose stools which was also pale in color and yellowish discolion and the child was once again taken to Mad Medical College was treated with IV fluids and medications. The symptoms subsided and then a genetic testing was done and the parents were informed that the child has a genetic liver disease and the child may require liver transplantation in the long run. And after 3 years of age, the jaundice was persisting. The jaundice was persisting between 3 to 4 years of age. And by 4 years of age, it's around 3 months back, the parents noticed deepening of the jaundice, the pale colored stools, intense itching which was more at night and associated abdominal distension. There was no history of seizures, no fed sensorium.

[00:09:08]The child was admitted for one week at Madame Medical College and discharged after evaluation. And the parents were told that the child needed liver transplantation and the child had come to SATR hospital for further management and for a second opinion.

[00:09:22]And the child was having history of poor weight gain since 6 months of age. There was no history of any bleeding manifestation. There is no history of any abnormal sleep rhythm or altered sensorium. There is no history of seizures or hypoglycemia. There is no history of repeated blood transfusions.

[00:09:37]There is no history of recurrent respiratory tract infections. There is no history of passing greasy bulky stools. There is no history of involuntary movements. No history of rashes or joint swelling. No history of drugs intake of drugs other than the prescribed supplements. There is no history of difficulty or breathing breathlessness while lying down. There was no history of fluent discoloration of the skin or the mucous membrane.

[00:10:01]There is no of decreased output or swelling of the ankles.

[00:10:06]Coming to the family, the child is a third child born out of the second degree marriage.

[00:10:13]I we can have a discussion on that one.

[00:10:16]Go back. I will go back to the first slide and start.

[00:10:22]Okay.

[00:10:47]Okay.

[00:10:49]So what is the primary presenting complaint? Uh sir what are the problems you are facing this with this with this child? And the child was having yellowish discoloration of the eyes and skin sir. And the child was having persisting itching all over the body.

[00:11:07]>> So only yellow discoloration of ice and skin. There is any high color urine, low color stool all.

[00:11:15]>> Yes sir. There was also they told this presenting complaints when you asked the history of they also given us history of pale colored stools and high color urine.

[00:11:23]>> Okay. So so what do you what do you consider what you will consider call this condition as such? We will consider as choleistatic joint is a polyatic ja this patient is having. Then what is the second problem? This is a recurrent problem.

[00:11:36]>> Yes sir.

[00:11:37]>> Okay. These are the two things. Uh what are the other? So uh next slide please.

[00:11:44]Next slide.

[00:11:46]Okay. So you started from history. Okay.

[00:11:49]So what is importance of consign marriage for you?

[00:11:52]>> Yes sir. liver disease is concerned that second degree consignities what is secondary conity >> second degree conity means usually between uncle and niece >> okay usually common areas marriage >> uh higher degree consity what is importance of this these things automal recessive disorder such as pic may be presenting such he will not go to pic and metabolism should be considered for this one. Okay.

[00:12:32]>> Yes sir.

[00:12:33]>> Then first trimester patient is on iron folic acid tablet there is no history of your rash. So what is the significant of this condition with rash?

[00:12:42]Sir for to look for torch infections may be presenting with fever of the cause policy especially early period you have to consider >> infection so you have to ask so usually we'll ask some other conditions conditions also during the first trimester you didn't ask drugs radiation exposure you have to completely tell an exam condition okay then scan was normal PD vaccin taken okay there's no trimester Dr. Do you want to ask anything in the history?

[00:13:15]>> In the history, have you asked about the preconceptional folic acid because the child had some family problems? Maybe even otherwise child died at 5 months not an abortion but still but preconception poly whether the child has to whether the mother has taken preconception >> no sir no >> ask you ask you don't know you didn't ask sir >> you didn't ask >> okay then what about the many oxipital lymphopathy why do you ask for want to ask for oxipital lymphanopathy in the antinatal period Okay.

[00:13:54]And >> so you asked about pure with rash. What are the other things you have? One of the thing is is highlighting what is that indicate there is oxal enlargement >> others I think third year can also answer the questions.

[00:14:16]So oxoplasm is written it's reel infection there may not be sometimes any rash but the oxipital lymphodopathy only joint pain or something and the prominent finding will be oxipital lympodopathy and then about the third trimester you have to ask some more thing because this is a child with having a polystasis you have to ask about something else related to the mother whether mother has cholestasis related to OC pills or inhypatic Was there inatic stasis of pregnancy that may indicate sometimes PFIC and any any parental history of gallstones that is also important in MDR3 this thing then fatty acid oxidation defect there is there will be an acute fatty liver of pregnancy and help help that is preeacclampsia with low platelet count that can also be as associated feature and thrombophilia in the mother sometimes fetal thrombotic Vasculopathy can affect the liver and subsequent liver failure and cholestasis sometimes.

[00:15:21]Then the maternal amphetamine anticonvulsence alcohol that also you have to ask specifically and that's about what to say about in the antiatal history this history also you have to ask in the antal period. Okay.

[00:15:43]>> Uh term baby for you >> sir. In intrauterine infections there may be growth rate. It may be a baby.

[00:15:53]>> What about what about choleistasis and birth? Is it important?

[00:15:59]>> What is that? Anybody can answer what is importance of birth weight and choleistasis what type of policy is common in a case of in SDA baby do you know >> uh no sir >> okay hepatitis raw it's usually seen in a low birth weight baby or baby that may be due to dry infection Okay. Ber asphixia there no nothing like that. Newal j why do you ask about uh hypoglycemia for this patient sir any inborn of metabolism may present as hypoglycemia >> form of what are things to concern what of metabolism newborn >> period galactosemia then tyrosineia may be there then glycoin storage disorders may present hypoglycemia. So both in the hypoglycemia and seizure in that way it is important. What about sepsis and UTI >> sir? Sepsis itself can lead to destruction of the bill radical sir by the direct invasion of the organism that also it can create jaundice.

[00:17:15]>> What about UTI?

[00:17:18]>> U >> what about UTI?

[00:17:22]So Eoli is common site.

[00:17:25]Okay. Then breastfeeding initiated.

[00:17:27]Okay.

[00:17:30]In which metabolic disease Eoli sepsis is very common.

[00:17:35]Okay. Breastfeeding discharge on PND surgical. Okay.

[00:17:40]Regarding regarding this SDA what are the other causes other than one is I mean I mean any individual hepatitis and subsequently stasis also what are the other causes of it can be what are the other causes of SDA that can present in the child with polyasis or any other causes Yes, >> it may be any of the chromosomal anomaly. Chromosomal anomaly or a syndroic baby. Syndroic baby or baby that they also can present with the SGA.

[00:18:22]So, so that's can go on.

[00:18:28]>> Okay. What about the what is the importance of meium history in a case of neonatalis?

[00:18:34]Sir in conditions like cystic fibrosis there may be a delay in passage of mecconium also in hypothyroidis also there may be a delay in passage of meonium sir both are very important for as far as neos is concerned then okay grihas so what is what are the ways hypothyroidism can produce neonal jaundice or anybody can answer >> it can lead to bary stasis sir it required for proper metabolic function.

[00:19:06]>> Then hypothyroidism may also be part of central hypothermutism.

[00:19:13]>> So what are the things that you look for in a child suspect hypoputia?

[00:19:26]looking at the baby of the baby. Looking at the baby, what all the things will you look for if you suspect a pan hypopus?

[00:19:36]>> Uh we would look for any uh we could look for it hypoplasia, septtoic hypoplasia and sometimes and of course we have to look about whether the child is letharic hypoglycemic because the other hormones will also be affected cortisol and all these will be affected. So that also but the phenotypic features are also very important and also in crypto orism and hypo I mean unresended and micro. So that also you have to look for. Yes.

[00:20:08]>> Okay.

[00:20:10]>> Next slide.

[00:20:14]So child was presented for the first time with at 6 months.

[00:20:18]>> Yes sir.

[00:20:20]>> Okay. Then there is a blue. What is the cause of Louis discoloration for this patient >> sir? It could be due to an associated vitamin K deficiency or maybe due to an associated trombocytoenia at that period as part of the liver disease.

[00:20:35]>> Okay. Okay. It's a bleeding. I think it's a bleeding.

[00:20:37]>> Yes sir.

[00:20:38]>> You have mentioned there is nois bleeding. That's why I Okay. Then later part abdomen palms.

[00:20:47]>> How do you know that it is a bleeding?

[00:20:49]We were looking at the thing. How do you know that it is a bleeding?

[00:20:55]>> Uh sir, usually they would uh not looking at it from the history. How you ask to know that whether it is a bleeding that has caused the >> over the any part which is susceptible to traumas. So the dependent parts or the arms >> also it can occur. How do you look for that?

[00:21:20]Because there is a mean and the color color will vary because skin bleeds initially it will be red then it will be going on to blue black I mean something like that there will be a change in color because there is a bleeding that has occurred over a period of time it will change that is how we look for what are the other skin things skin conditions when you look for especially when a child is presenting like a jaundice or maybe a hepatitis or maybe stasis. So what are the other skin condition will you look for?

[00:21:58]>> Uh skin over the head to foot examination the skin manifestations what all things will you look for >> sir in an older child >> no in newborns or infant or older child whatever it is. Okay sir. Uh we could look at the eyes. We could look for a KF ring. If it is an old site then uh >> no no skin palmer spider angoma sir.

[00:22:25]>> Yes liver failure. So there are the features of chronic liver disease.

[00:22:28]Chronic liver disease that you can slide or anyway that that also but from the history any other thing skin manifestations one thing can be what are the cause of perura in suppose this child 6 months or developed a perpa what are the causes vasculitis >> no in this child which is having you have already told the history it's something like hepatitis or polasis or weather I don't know but we have to what are the in that context what what are the conditions will you look for perura what are the cause any infection yes thrombocytoenia somebody what are the causes of thrombocytoenia >> virus infection sir cmvala >> okay okay and some any other diseases that can cause any many any storage diseases.

[00:23:29]Storage diseases also also can have a bone marrow involvement and they can produce a trombocytoenia and hyperplanism. Hyperplanism also can produce a thrombocytoenia. So, so there are lot of causes for trombocytoenia perura. Another thing is mean infiltrate ichthosis. There's a condition called ichthosis in ichthosis colitis syndrome.

[00:23:52]So that is and then you have to look for sandattosis. Santosis also you have to look for and then of course in an older child you can look for any any scratch marks or any that sort of thing because the small children you will not get because they will not scratch all the children definitely you'll have to look for the scratch marks. So these are the things you have to look for in the skin.

[00:24:13]Yes.

[00:24:14]>> Okay.

[00:24:17]>> Next slide.

[00:24:18]>> Okay. Next slide.

[00:24:21]Again there is a uh second episode and third episode.

[00:24:27]>> Yes sir.

[00:24:28]>> Two months. So all the time patient once patient received treatment it has improved or noas or there is a basic isis there.

[00:24:37]>> At this time the patient actually improved sir >> every time it is improved.

[00:24:41]>> He was improving in the first two years he was improving.

[00:24:44]>> So you are getting a recurrenis.

[00:24:47]>> Yes sir.

[00:24:47]>> So what is the basic cause of this? Is it always associated with fever?

[00:24:51]>> No sir. Only one time it was associated.

[00:24:54]>> Feverisening occurrenitis.

[00:25:01]>> Yes. Colgitis can be a cause for patient is suddenly deteriorating. When will it occur colitis? In a case oftic jist when will it occur? Usually >> usually after uh >> usually posttopy. So postite people usually get reconities and recon worsening of the condition.

[00:25:23]>> Okay.

[00:25:24]>> Okay. Then uh what are the causes of I mean what are the causes of recurrence? What are the causes of recurrence?

[00:25:35]The patient with the clearis what are causes of what are the causes of difference already is so infection and could be due to drug intake sir >> any drugs any drugs that is they are not taking any drug which is given for the polyasis or maybe other drugs which can worsen this thing any other thing then uh progression of the underlying disease sir that produce progression >> recurrence.

[00:26:13]So you already mentioned some genic condition. Can it be haveis or progress in pic recurrenis the disease by inherently maybe the nature of the disease will be a recurrences?

[00:26:32]Any other causes gallstones is it not gallstones the gallstones are coming and they are sometimes obstructing and they are aggravating the problems. So the what are the causes of gallstones in a child with polyasis?

[00:26:50]>> Uh gall sir one it could be due to in units it could be due to either barying due to certain drugs. Yes.

[00:27:01]>> Is it track >> uh subtraction can cause >> percentages if you 100% get uh subtraction how many of you get can have >> 30% sir >> can go up to 30% that's very important to have we have we are using so many subtraction nowadays also treated with subtraction instead of separatin so you should be very cautious okay then >> sir then in nu one cause is parental nutrition dehydration inated bile syndromes in the new period and any hemotic anemas hemotic anemas. What are the highotic anemas that can produce and hemotic anemia that can produce aism?

[00:27:53]Yes.

[00:27:54]Yes. Okay. Yes.

[00:28:02]Yes sir.

[00:28:13]>> Okay.

[00:28:16]The same thing again repeated.

[00:28:17]>> Yes sir.

[00:28:20]Then these are the negative.

[00:28:23]I then I'm asking is the child worsening is the polasis is worsening or is the child's epatic condition the liver condition is also worsening other than the cholestasis >> yes sir the liver condition is also worsening sir >> how do you know that >> the child has started to develop abdominal distension >> abdominal distension what is the cause for abdominal distension >> uh it could be due to a decommenation or due to portal hypertension >> portal hypertension suddenly developing bottle or any other possibility failure. What heptoellar failure what is the hypoproinmia can occur hypoalmia >> and that can lead on to asitis is it not?

[00:29:06]>> Yes sir.

[00:29:07]>> So what are the cause of asitis in a chronic liver disease?

[00:29:10]>> First one is decrease in the synthetic function hypoalmia then it could be due to associated portal hypertension. Then it could be due to liver enlargement, abdominal, hypoproinia.

[00:29:24]>> Anything else?

[00:29:27]>> Sepsis. No infection. They prone for infection. I tell you that chronic liver disease is prone for infection. Bod hypertension are also prone for infection. Is it not?

[00:29:36]>> Yes sir.

[00:29:37]>> Okay. These are the causes of so you think it's any other cause any other other than abdominal distension what are the things will you look for the child worsening of the liver status >> due to polyasis increasing disenfo can occur the polyasis may be >> is it not >> yes sir how do you know that other than the abdominal distension what are the things will you look for whether the liver condition is well uh The from the symptoms sir the symptoms have started to become >> progressive sir the itching initially was intermittent now it is persistent then the >> species is worsening may not be indicating that somebody is saying quagalopathy bleeding and altered sensorium they are saying then edema edma is also and altered sensorium seizures or any other thing so that can what are the also worsening liver status.

[00:30:41]>> Uh bing liver status can >> also any infection sir any coexisting in drug intake infections infection.

[00:30:57]>> Okay.

[00:30:59]Yes.

[00:30:59]>> What patient is having failure to drive also? What is the cause of failure to drive? Uh yes for uh the one could be due to part of the chronic disease.

[00:31:09]>> That is the main reason is it >> part of this patient is having malabsorption while B is not not being produced. Okay.

[00:31:17]>> Then >> uh then for this child there is also an associated nutritional deficiency also sir intake is also okay. Next slide.

[00:31:31]Next slide.

[00:31:46]No history of repeated blood transfusion has initially received some blood come from earth.

[00:31:51]>> Yes sir. Only one was there.

[00:31:53]>> Is it enough to have some?

[00:32:00]Okay. Yes sir.

[00:32:02]Why you should ask for spread infection?

[00:32:04]Uh >> in case of conditions like alpha and deficiency there will be recurrent respirator tract infections also sir.

[00:32:10]>> Okay. CF and why you should ask about involuntary moments.

[00:32:14]>> Uh associate if it was a Wilson's disease there would be associated invol usually present at five.

[00:32:25]>> Okay.

[00:32:26]suitable negative involuntary movements. Any other causes for involuntary moments?

[00:32:37]Progressive liver failure can also lead to >> suppose the child has developed jaundice in the newborn period and later the child is developing and it was very high very the jaundice was very high needed or intensive phototherapy and later child is developing an involuntary movement. So what is the cause that you think of >> sirin induced neurological damage can be thereopathy policy involved in the basal gang involuntary movements and some of the metabolic disorders mitochondrial mitochondrial or multi system disorders are also can produce involuntary movements any other neurological involvement some of the causes of hepatitis and polyasis will have CNS involvement also so what are the causes of CNS involved Polasis child with polystasis or liver disease is having neurological involvement. What are the conditions?

[00:33:35]>> Losal storage disorders like neanpic type C, Zelve syndrome.

[00:33:42]>> Then uh these tyrosineas can also tyrosine galactomia.

[00:33:47]>> This can also lead to neurological involvement sir.

[00:33:50]>> Okay. Okay. Yes sir.

[00:33:53]Yes. Yes.

[00:34:01]>> Okay.

[00:34:02]>> Yes.

[00:34:03]>> What is your finished your history? What is your diagn what are the diagnosis you consider at this stage?

[00:34:10]>> Not I think the family history has not been told.

[00:34:14]Okay. Okay. You finish the then no problem.

[00:34:18]>> Okay sir. The the child is a third child born of a second degree consignious marriage. The child has a history of sibling death at 5 months of age. The cause is not known only they have told that the child had fever and passed away and another sibling is there 8 years old and healthy. There's no history of any liver disease in the family.

[00:34:39]The family the father grandfather all their family you have not I think have you the three >> grandfather grandfather's family anybody >> no >> what are the family what are the families they will ask for >> any unexplained deaths any neurological conditions in the family.

[00:35:12]>> Any neurological condition, liver, any gallstones, any gallon, chronic liver disease, any stasis, any surgeries, any of abortions. So, >> okay.

[00:35:27]>> Yes.

[00:35:32]Okay.

[00:35:33]>> Yes. Okay.

[00:35:36]Sir uh and coming development history sir uh the gross motor uh neck control was attained at four to 5 months the father could not remember the rolling over sat without support by 10 months stood with support by 1 year walked independently by 1 and a half years and still doesn't climb stairs then fine motor pinser grass by 1 year scribbling by 1 and a2 years copy circle actually by 2 years uh draw squares by 4 years. Uh language development babbling started by 6 months by syllables by 1 year. Vocabulary of around 10 words by 2 years. Currently the child is speaking in sentence able to tell his name and age. Social development social smile attained at 2 months. Stranger anxiety was present at 6 months itself. The child is interactive with the family members and plays with other children also. He also helps in household activities appropriate for it.

[00:36:32]There's an isolated gross motor delay for the child sir.

[00:36:36]>> What's the reason for cause of sir?

[00:36:39]>> Sir, it could be actually due to the disease itself sir. Due to chronic disease could also be due to the associated malnutrition. Sir >> malnutrition causing a gross motor delay.

[00:36:51]>> Very very unusual.

[00:36:56]Tonic illness.

[00:36:58]illness chronic illness will produce a gross motor delay vitamin deficiency maybe sometimes correct sometimes but anything else so I think is it due to hypotonia is it due to weakness is it due to spasticity the child is is having lower limb involvement alone upper limb is okay because the fine motor appears to be normal is there any problem what is the problem.

[00:37:28]>> The child was having hypotonia sir.

[00:37:31]>> So it may be due to hypotonia weakness.

[00:37:35]>> Uh weakness was just hypotonia was there.

[00:37:39]>> Okay. Yes. So hypotonia of course but the f motor everything is doing >> is it not?

[00:37:46]>> Yes sir.

[00:37:48]>> Yes look for Yes. Examination will come to the examination. Yes. What is the I mean what is it is 35%. You are saying it is 35%. Not only the what are the other see take the previous slide.

[00:38:00]>> Yes sir.

[00:38:02]>> You're saying unable to climb stairs and after one and a half years child is not doing anything. What are the other things that you you have looked for in the four year old child?

[00:38:13]>> So four year old child usually >> by uh 2 years he should usually climb upstairs with two foot in each step.

[00:38:27]But why he not doing?

[00:38:29]>> Yes.

[00:38:30]>> The question is patient is not having any gross motor after what is the reason to run well in the ground.

[00:38:42]>> Ah yes sir little bit more history here. Is he able to stand stand up from sweating post?

[00:38:53]Yes.

[00:38:55]Yes.

[00:38:56]What is this indicate?

[00:38:59]Proximal muscle weakness or if he's not able to stand up. So you have to Okay.

[00:39:05]Is it upper limb also involved? He's able to take things from the from height. He's able to comb his hair.

[00:39:13]>> The type of history also you should ask because you have to decide both upper limb and lower down limb in both proximal and okay.

[00:39:23]Yes. Yes.

[00:39:25]>> Okay. According to fine motor and language social is normal.

[00:39:31]>> Yes.

[00:39:33]Then uh immunization history child is imunized as per the national immunization schedule. Age appropriate vaccines were given. There's no AFI BCG scar was present.

[00:39:46]>> What vacase at this point?

[00:39:48]Uh we could address hepatitis A then uh >> okay what is the the schedule >> the influence and hepatitis influence also any chronic illness you have to give influence also >> then dietary the child was having a deficit of almost 740 kilo calories and a 2 g deficit in protein sir Then uh so economics what are other things patient is having patient vitamin D rich food vitamin containing food you should have bit more history in the diet >> I see very very brief history >> I think the JR3 could have helped him >> I had taken sir he was actually having milk, rice, sambar. This was the main diet of his.

[00:40:47]>> Okay. Then you have to tell that because is there diversity is there? Is there minimum? What is the what are the characteristics of in a good infant and young child?

[00:40:59]What are the minimum requirement?

[00:41:01]How do you say that?

[00:41:07]Minimum dietary diversity minimum >> minimum dietary frequency dietary diversity and minimum acceptable diet >> not say about the different vitamins is it containing all the food groups all the food groups are myate concept all the food groups are aware any many foods deficient in any like sir has told iron folic acid all these things you have to say vegetables that you have to say yes >> the child Why the child is not getting because they are not able to give or the child is not able to take it >> because of anorexia or is it because they are not according?

[00:41:48]>> They told it is mainly because he's not eating much sir.

[00:41:51]>> Okay. Yes.

[00:41:55]Then uh so economic status they live in a paka house with three rooms eight members overcrowding is present. Uh they drink well and municipality water.

[00:42:04]Mother studied till 12th. Uh she's a homemaker. Father studied till 10th.

[00:42:09]He's a daily wage worker. Income is around Rs. 10,000. Based on the modified Kusami social economic skill, education has a four score of four, occupation two and income two. And the total is 8 out of 29. He comes under the upper lower class of modified ku swami skill set.

[00:42:31]Then uh summary uh 4 and 1/2 year old male child term SDA baby third child of a second degree consignious marriage with the sibling death at 5 months of age associated with gross motor delay immunization complete presenting with four years history of infantile onset colicatic jaice with a vaccine and waning cause and the initial episode at 6 months associated with echimotic patches and episodes with poor weight gain since late infancy >> false of the illness also you could have you can told whether the there is any features of liver failure or liver status is becoming bad. So any so that also you can say suspicion at least suspicion some you may not be able to say at this stage only after examination you'll be able to say that but still you can sometimes yes >> okay next slide general examination the child is conscious alert sitting on bed and interacting with >> you want to say any comment >> uh a good presentation I know uh second question well discussed in this case few points which are very important the call static jies. So that means it is you're halfway through you need not consider the hemolytic and the enzyme problems. It is beyond the conjugation. So it can be within the liver or beyond the liver up to the sphincter of body. So whether there is a surgical problem also you need to consider. So in that situation what is the time of onset is a little vague here. The total duration and the course of illness is very important. It didn't start in the newborn period. It was delayed up to 6 months. So where exactly it started is a little vague. So it started from 6 months and it is now at 4 years the baby is surviving without any intervention is one point which is very important. Second thing is overall the cause is waxing and waning.

[00:45:03]It is worsening in due to some precipitating factors. So that helps to rule out and few of the entities goes down in the list. So when you are considering a choleistatic disorder the possibilities the main groups are few of the intrauterine infection also still need to be considered which can have a late onset and progress like cytogala virus sometimes behaves like that. So infection also is still possible with such a presentation a little late onset gradually progressing up to 4 years is possible. The rebella and the toxoplasma all these things are out but out of the intrauterine infection side. The second group is inborn of metabolism.

[00:45:51]Majority will be presenting in the first 6 months it's well and out of which few of them will be very fast progressing like galpestomia that you can totally rule out in this case because the onset and cause and progression is much faster but there are few in inbounders of metabolism and second group is it is not an inborn of metabolism it's an inherited liver disorders where the metabolic problems is relevant. So that the inborn metabolism group you already discussed the tyrroseneia group fructose fructosemia situations few of the inbound metabolism presenting with the glycatic disorders and in that group the three group one thing is the other systems are involved another group is liver only is involved the third group is liver but the structural problems that is beyond the outside liver pathology three groups you can consider. So and in in this situation newborn period was asytomatic. The one point we already discussed neonatal jaundice presence is a history which is relevant because sometimes cystic fibrosis can present like this. One of the deities need to be considered there the neonatal jaundice is a cloak. In this case the jaundice was not there in the first few months rules out the possibility of cystic fibrosis galactosmia and many of the things which are given early onset like the classical type of thyosmia type three pneumanic disorder all these things are goes down in the list and the there is no other system problems like neurological problem. So that all help to narrow down the possibilities among this group. the inbound of metabolism which will be affecting the neurological other things are less likely. So it is more of a problem of the liver only situation and that can lead to secondary weight gain problems at all. The inbound metabolism group production producing a weight gain problem is due to the other system infection like neurological and other other part. The liver problem is liver only is progressing but that can have a secondary problems of the weight gain.

[00:48:12]That is what is happening here. The next thing is what is the cause of illness in many of the conditions it will be fast growing progressing and deteriorating and dying the structural problems like beratricia. So that you can totally rule out in this case the episodic phenomenon in between normalizing. So there is the importance of when did it occur? Is it related with some introduction of the food, some infection, some drug or toxin introduction. These three are important because ptomia and all sometimes it can have an onset somewhere around four months. It can have an onset but few of the uh metabolic problems which are related with the incondense in the diet starts at a little later 4 months onwards. So that time of onset and the relation with the food introduction is important and again is the episodes related to introduction of a particular item of the food or a drug or an infection. So those things are important because that may be related to that thing or infection related triggering is very important because few of the metabolic problems like mitochondria and all infection triggering is very very important there the few of the other things are well discussed in the family history we were already considering any other member you mentioned sim there is no similar history it's not enough because you need to consider all the other thing we were considering gold stones and other thing neurological problems and early death. All these things we are considered. One entity you need to consider is sometimes autotosomal recessive form of a liver disorder can have the polycystic kidney. Automal recessive polycystic kidney present in a newborn with a liver disorder not kidney but the adult may be presenting with reality disorders also. So family history should include neurological problems. Family should include adult members with a polycystic kidney and of course many other conditions also.

[00:50:49]Whenever you are drawing a pedigree, you are all very very well discussed. Go ahead.

[00:51:08]Okay, thank you. Coming to the uh general examination, a child conscious alert sitting on the bed and interacting with the excuse me one more thing because in the development you have not told about the hearing of the child vision and hearing. So that's not told in the development that is very important because many of the inal infections and many of the metabolic disorders mitochondrial disorders will can produce eye involvement as well as the ear involvement the hearing vation and hearing has to be assessed I mean it has not it has not been written in the development is a part part of the developmental history passenger was asking again and again in the isolated goss motor disorder up to one year is was static and after that why uh no progression that point is important because we attribute all the isolated osmot due to a system problem but it need not be there can be a combination out of which Dr. Ranovas was asking whether the proximal weakness is there in the upper limb also that's a very important point because if there is a proximal weakness in the lower limb and upper limb that points towards the underlying ideology some muscle problem in the liver problem there can be a mitochondrial disorder. So the associated muscle weakness is responsible for the proximal weakness which is there in the upper limb also.

[00:52:46]Here upper limb is paired, lower limb only is involved. A little uh down in the list goes the associated muscle problem. That's a important very useful point.

[00:53:00]Then general examination the child is conscious alert sitting on the bed and interacting with relatives. Vital's pulse rate is 96 per minute. Regular rhythm normal volume and character no radio delay. All peripheral pulses felt bilaterally equally. Respirator rate 24 per minute. Abdominal thoracic BP 160 mm mercury. Right upper limb in the sitting position. The temperature is 90° F.

[00:53:26]Saturation 97% on ROM.

[00:53:30]Then uh Bor was present present and clubbing was also present grade two clubbing and sinosis generalized lymphopathy and edema were absent. Coming to the head to foot examination excuse me the wheate or severe ba that's very important is it that's also you have to say yes where you have looked for um answer the palms palms and is clear mild moderate or severe mild Yes, because you want to because the is there is it due to is it false history but you have to look for any bone marrow problem anyic problem associated or something the also what are the reasons for it is it a nutritional it a bone marrow problem is it all these things you have is it a severe mild or moderate you have to really looking Several according to MNC par >> according to MNC so what is the problem what is the relation between jaice and paralytic there may be par associated jais >> okay you may underestimate in case of if you look for ps you may underestimate par in case of jis is also there sedime is also there you I understand both.

[00:55:11]Okay. Also you can tell what is severity of and also you can I can even tell like that look for obstructive >> it's not a must but you can tell >> coming to the head to foot examination head is normal in size and shape.

[00:55:31]>> Facial dysmorphism. What are the conditions that can cause facial disorphe bulbous nose then triangular faces deepseated eyes >> then any other any other >> then in case of glycogen storage disorders also okay ma'am likely Any other condition >> then hypothyroidism?

[00:56:09]>> Hypothyroidism. Okay. Anything else? Any any other disorders? What about peroxismal disorder?

[00:56:18]>> What is the how will it be? The face will look like >> usually like broad forehead and wide space eyes and narrow means will be upward of the eyes.

[00:56:37]Hypotonia hypotonia hypotonia. Yes.

[00:56:43]>> Okay. And then also also yes then coming to the eyes the eyelid eyelash appear normal and cont there is par there is no bot spots no catact or kafing cornea no cafing no dryness lens no cat fundus no corinitis no cherry red spots the ear appears normal mouth and oral cavity dental car is present The gums appear normal. No angular stomatitis or kilosis. The tongue appears normal. The chest there is no raetic rosary. No harrison sulcus. No spider nei. No dilated veins.

[00:57:25]Then the abdomen distension is present more in the upper half of the abdomen.

[00:57:30]The umbilicus appears normal. There's no dilated veins. Lymphs no fryerma. The limbs appear wasted. Nails show grade two clubbing. There is no palmer. There is no involuntary movement of the limbs.

[00:57:42]Generally scratch marks are present.

[00:57:46]Then uh coming to the anthropometry red we can see sneak can produce a liver problem. No >> tax can it produce a liver problem? T-ax usually doesn't produce okay and gosh disease goes many there are mitochondri responses okay then uh coming to the anthropometry the weight for was at minus 3 standard deviation the child is severely underweight height for height was less than -3 standard deviation. Sever standing the weight for height was between -2 and -3 standard deviation suggestive was wasting. Then the head circumference was uh at minus2 standard deviation normal.

[00:59:02]>> Wasting rating also you have to write a moderate wasting or a severing wasting is it a moderate or severing?

[00:59:11]Um moderate wasting sir >> moderate wasting.

[00:59:16]So is it an acute or acute or chronic?

[00:59:18]What do you think about the mal malnutrition? Is it an acute chronic?

[00:59:23]>> It is chronic sight is also affected.

[00:59:27]Chronic only acute on because there is also there is an acute on is there any microapal >> no sir >> you're sayingus sorry can you see me I can't see you sir Okay. Okay.

[01:00:12]We have taken a very good history and examination.

[01:00:19]>> Yes. Yes. Yes.

[01:00:26]Yes.

[01:00:33]Oh yeah.

[01:00:37]>> Only thing is that the mid circumference you mentioned mentioned as 13.5.

[01:00:42]That's a bit unlikely.

[01:00:46]>> Okay. See the weight is 10.1 all the parameters are very very much.5 maybe you're wrong in that madame circumerence measurement. Okay. Okayus is ma'am or >> ma'am sir >> ma'am what is the mam circum circumference in ma'am >> ma'am it is between uh 11.5 to 12.5 sir >> that's 11.5 to 12.5 that is the ma'am okay so that that is what what sir was telling because 13.5 and if wasting shows moderate wasting Yes ma'am.

[01:01:46]Yes ma'am.

[01:01:48]>> Focus system examination g the upper g there's no oral mucosal bleed dental carries are present no dental maloclusions no glossitis no keitis posterior fangial wall and tonsils normal.

[01:02:03]Then uh inspection the skin is slightly yellow in color.

[01:02:08]The shape of what is dental maloculation. Why do you say dental mal?

[01:02:14]>> Uh in uh this storage disorders there may be malusion sir.

[01:02:20]>> Storage disorder.

[01:02:24]>> Which storage disorder?

[01:02:29]Glycogen storage disorders >> usually chipmunk fishes because the maxillary bone involvement get mal and sometimes okay so that is so Germanosis also sometimes faces so faces mainly species it's not malusion it's mainly when we are chipmunk fishes Then uh on inspection the skin over the abdomen is slightly yellow in color. The abdominal shape is distended more in the upper half. The flanks are full. All areas move equally with respiration. The umbilicus is central appears normal. No dilated veins or scars. Hernal orifice is normal. External dentia normal mentia.

[01:03:20]Then on palpation superficial palpation the abdomen is soft. There is no tendonous. There's no local rise in temperature.

[01:03:28]Uh deep palpation. The liver is palpable 2.5 cm below the right coastal margin in the midclavicular line. Firm in consistency. Sharp borders. Smooth surface. Non tender. The left lo is not palpable. There is no spenomaggali.

[01:03:42]There is no other palpable masses in the abdomen. Abdominal girth is 50 cm at the level of the umbilicus.

[01:03:50]Then percussion. The upper border of the liver is focused at the fifth right intercostal space in the midclavicular line. The liver span is approximately 6.5 cm. The drop space is resonant.

[01:04:04]Why you saying approximately >> 6.5 cmite measurement rather than approximately that sometimes the examiners may think that you have not taken it properly.

[01:04:21]Yes. Uh the drop space is resonant shifting is present on oscultation.

[01:04:28]There is normal bowel sounds no brewing.

[01:04:32]>> Oh what about what do what do you think what is rad slope? What is rad slope?

[01:04:37]>> Uh rad slope is a small extension of the liver extending from the right lo right lo. Okay. Okay. So are you what about then the epigastium? Have you told so epihask also has to be palpated in when you examine for liver. So sometimes in some cases of liver cerosis you may not be able to palpate the right the right hypochondrium but epigastium maybe may be getting because it may be in aerotic liver sometimes you get what you look for in the epigosium also how do you feel the liver so this consistency sharp borders smooth surface so there is no nodules no sir is the is the liverotic liver would be nodular sir this liver doesn't appear asotic So you don't think that he's having >> I know uh in that uh size of the liver span of the liver is also important >> was asking as the liver evolved into cerosis because it's most likely because by this long duration there is a edema asitis so most likely it is evolving into 0 to 6.5 is not enlarge. It is almost normal for the 4 and a half year old child span.

[01:06:00]It's a even if at all it is a little on the lower side not enlarge. The size is important in many ways because a patient with this long history going in for evidences of decompensation.

[01:06:16]The possibilities are different type of epatic problems. A metabolic problem or a storage problem or a structural problem going in after a long time for cerosis. The size is important. a storage disorder lossal or whatever going in for later complication of a cerosis it will be enlarged and the consistency is firm and nodular that is one group of problems. The other group of problem there is no storage but frequent injury to the liver like a metabolic problem only like the the biochemical problems galactosemia vetosmia and all there is no storage involved cells are getting necros and fibros there if the actual shrinking and size will be less. So that is important in this case size is not anyway large it is almost normal or little on the lower side. So that also is helpful what type of liver pathology you are dealing with.

[01:07:21]It is not something which is producing a the choleistatic stagnating type like the vary atricia group that will be enlarged and fibroic and looal storage group going in for also it will be large and fibro. So it's a shrunken and fibro.

[01:07:43]Okay. The the consistency and all are important. Okay. So that is helpful to the different types of chronic liver diseases. Okay.

[01:07:58]And uh coming to the CNS examination the higher mental functions normal. The cranial nerves are normal. No gaze pulsy. Motor system a generalized hypotonia power grade 4x5 in all four limbs. The deep tendant reflexes are two plus or sensory system appears normal. Cerebella signs there are no cerebellar signs.

[01:08:21]Skull and spine appears normal. Uh there are no no flapping tremors. No involuntary movements. So regarding regarding hypotonia, how will you assess the degree of hypotonia?

[01:08:34]Because you told that the child is not able to climb stairs not using his lower limb. You are saying it is due to the hypotonia because the power seems to be normal.

[01:08:43]And uh what do you think the severity of hypotonia? How do you assess the severity of hypotonia?

[01:08:55]>> How will you assess hypotonia? I mean tone in a child with cereal policy or 180° flip. How you assess mean or otherwise? How will you assess? Is there any angles?

[01:09:09]>> Yes.

[01:09:09]>> Is there any angles?

[01:09:11]that's called ML angle. ML T angle can be used for looking for the tone can be spasticity or hypotonia how much severe it is so what are the different types so so that you have to go through I think uh I think the seniors can tell what are the angles that you can measure what are the angles anybody Add angle angle heel to ear to ear tors flexion and scarf sign is it not? Yes. Yes.

[01:09:56]Yes.

[01:09:57]>> Okay. Then coming to the cardiovascular system and no cardium S1 S2 normally heard no S3 or S4 heard a grade 26 ejection systolic murmur is heard over the perman area it is a soft murmur then respiratory system no tipia no increased work of breathing all areas move equally bilaterally normal vicular sounds heard in all areas air is bilaterally equal no crepations or we heard then coming to the summary A 4 year 8-month-old male child term SDA baby with no significant perinatal events. Third born to a second degree conspous couple with history of sibling death at 5 months of age and gross motor developmental delay. Uh now presented with late infancy onset recurrent colostatic jaundice with the waxing and waning cause associated with intermittent episodes and progressive worsening over the last 3 months. There were no features of enapilopathy or portal hypertension. no recurrent respiratory infection or greasy bulky stools. On examination, child was alert with stable vitals and had etherus palar clubbing, scratch marks or severely underweight, severe stunting with wasting moderate acitis with firm hepattogali with normal hypatic borders, no spleengali and generalized hypotonia.

[01:11:19]Yeah, there is there was not no pedal edma sir.

[01:11:30]>> No pedal edma. What about preca?

[01:11:33]edma >> because you are saying the is there and you are saying that it is due to heptocellular failure and it is not due to the pulmonary hypal hypertension because there is no splenomegali or other other features of pulmonary hypertension. So you think it is due to the liver failure >> so or decompensation as it is it not? So they should have edma also. So you have to look for pre I mean preac also maybe child is always lying down. So otherwise you have to have you got shiftingness?

[01:12:13]>> Uh yes shiftingness was present sir. Is there any fluid? No fluid thrill was there sir. Shifting was only there.

[01:12:22]>> Okay.

[01:12:24]The examination also you not told about the hearing assment. Hearing also was not told in the examination.

[01:12:31]>> Okay.

[01:12:32]>> Vision is normal. Vision is normal.

[01:12:34]>> Yes sir. Vision was normal sir.

[01:12:36]>> Yes.

[01:12:39]You have examined the fundus.

[01:12:41]>> Uh yes sir.

[01:12:43]>> What all the things you do look in the fundus?

[01:12:46]>> The fundus. You will look for the optic disc. the margins androphy, any red spots, any pigment, any pigmentation, any degeneration, retinal degeneration.

[01:12:59]So, so I have to because sometimes that may give a clue. Okay. Yes.

[01:13:08]Uh uh the diagnosis decompensated chronic liver disease, infantile choleistasis, no portal hypertension, anemia, gross motor delay, growth failure, no fat soluble vitamin deficiency.

[01:13:23]Then uh moving on to the differential diagnosis. Since the child is a case of infantile onset choleistasis later progressing into chronic liver disease first of all I would like to rule out all the infectious causes which was intrauterine infections anyis then the secondary would be progressive familial intropaticis because there's a family of it is saggous marriage then there is progressive increase in itching and um lots of the episode were associated Almost all episodes were associated with a loose stool sir. Then coming the next one would be allergy syndrome. But however the child was not having any dysmorphic faces. Then coming to bac could be bacic defects but it is a very rare presentation. Then galactosimmia it would be less likely as the child presented late. uh other DDS are alpha 19% deficiency cystic fibrosis but was not having any coexisting respiratory infection or any delay in passage of stools then other glycogen storage disorders lysosomal storage disorders but they also usually present with other features hypothermatricia and collidocal cyst are also lower down the list as they usually present early in the newborn period and child usually requires an intervention much before.

[01:14:52]>> So your first diagnosis is a torch infection first probability was infection sir.

[01:15:02]>> No infection means is it a sepsis is it a bacterial subp.

[01:15:13]No no no no problem no problem you can go through all these processes so do you think the bacterial sepsis is the reason for the cholestasis >> no sir less likely >> why why >> because it had there was no evidence of any separation because up to 6 months child was normal that is what you are saying because the neonal period was child was active alert there was no basixia child was feeding well there was no problem during the neonatal period and the was there only because the mother has some skin and subcutaneous infection. So surgical sight infection. So otherwise so what about the torch? Is it a possibility?

[01:15:54]>> Uh the favoring factor >> the torch is a possibility. What do you think the is the most likely cause?

[01:16:02]>> Torch was a possibility then the most likely cause would have been a cytogallo virus infection s which presents usually late. This cytogal virus sometimes it can present late also the screen initially hearing may be normal later on only it's a progressive hearing loss and the liver dysfunction also sometimes can be presenting well sending later so it may be a possibility but what are the points against >> sir there was actually no in the antal itself there was no history of any also baby there are some points in favor of huh What is the cause of in a case of CMV hepatitis?

[01:16:44]>> Yes sir.

[01:16:45]>> What is the cause of disease in a case of CMV infection?

[01:16:51]Is it inter usually it would be persistent sir?

[01:16:56]>> Persistent and progressive.

[01:16:58]>> Progressive.

[01:16:59]>> Okay. So you are getting an inter. So whenever you are getting a diagnosis like this and clinical features like this you can further further rearrange your order of diagnosis in interview always go for hepatitis potentially the reason what is the reason why you consider hepatitis as a possibility >> some you have you can have treatment some of the condition can have treatment so you will consider and roll out >> okay that Then second diagnosis second diagnosis progressive familial interopatic stasis. Uh this is because of the cancer which later on became progressively wor and there was also some types of Pix are also associated with loose stool and he was also having loose stool in all the episodes and uh from the history itself they were telling that they had diagnosed a genetic disease outside in Mad Medical College.

[01:18:04]Ali disease alleg syndromeic facet dis okay okay so that is a point okay definitely okay okay then >> is it s was asking is a positive possibility >> sir chronic pain reactivation can you get reactivation when you get a chronic liver disease Can you get stasis? No, of course may not be the predominant manifestation but still. So is it possible?

[01:18:44]>> Yes sir, it is you can say to think of because sometimes it may treat a treatable disease treatable. There is treatment for that but it's unlikely.

[01:18:54]Baby mother might have been screened for that. Then the baby might have been given vaccination and of course but it's a possibility that has to be some has to be considered and any of any hepatitis any hepatitis can it is if it is congenital or presenting in the infancy can have an associated polyatic component also because the infection might will be will be involving the biary tract as well. If it is infection is happening in the intra uterine or very early in life. So it is a possibility and of course if it is a treatable conditions definitely have to be thought of life-threatening and treatable conditions like was saying you have to screen actually there is a newborn screening for many of the potentially lethal dis liver problems like galactomia all the metabolic disorders and the mitochondrial also they have many of the places there are screenings for all these potentially treatable and life-threatening conditions. So you have to look for that of course. Yes. And is there any PFI PFI is there any neur neurological any neurological any reason for neurological involvement PF C4 is having a neurological invol.

[01:20:11]>> Another possibility it can be due to vitamin E deficiency. Vitamin E deficiency as a result of fat soluble vitamins are not taken able to take up because of the biary problem. So you can get a neurological involvement also. So there is that possibility is there. Yes.

[01:20:30]Because it's a very characteristic faces characteristic faces that it is there.

[01:20:35]So it is not there and of course familial inheritance all these things you have to consider when you consider bio acid synthesis defects.

[01:20:45]um um because he's having a progressive itching >> which is the most common condition among the neonal colasis where iting is a prominent finding >> PFIC. So your diagnosis and so okay >> another thing what they say is basic synthesis effect they will have mean features of stasis but not jis that is another feature they say yestomia tyrosine very class how do tyrosineia presents what is the presentation of tyrosinia and gactomia of course they usually present liver failure >> mhm present very early in life usually by third day or fourth day within the first week it will present and the child will be having vomiting vomiting severe jaundice abdominal distension features of liver failure and failure to thrive so that is very and tyrosin can present at any time within the first 6 months sometimes it can present with an acute hypatic crisis with severe pagulation failure and all these things so these things can be has to be screened actually especially there is the family history you have to screen these children for all these potentially lethal diseases.

[01:22:09]Hypothyroidism is also a treatable condition. Hypothyroidism okay is also definitely a treatable condition because surgically it is treatable cyst can be treatable can present as intermittent journeys also.

[01:22:26]>> Yes. Yes. Yes. So that you have definite because very simple you can treat and it is a recurrent in between intermittent.

[01:22:35]So that is okay comments.

[01:22:46]I agree the diagnosis this slide I think you could have altered based on your uh history general examination and systems first possibility and other possibilities. So most probable possibility should come first because otherwise good presentation. So how will you investigate and manage?

[01:23:18]>> Uh another thing is uh I know >> yes sir.

[01:23:22]>> Uh so here there is a consignity >> and there is a sibling death at around 5 months isn't it?

[01:23:30]>> Yes sir.

[01:23:31]>> Any more details available about that they told the child passed away. They didn't tell anything much about that. they told they also don't know much >> because this also has started to start the manifestations around at that period isn't it? So when there is consangity and a sibling death I think the first possibility always should be an autotosomal recessively inherited condition and here since it is the mainly it is a choleistasis and proitus I think familial progressive intriatic choleistasis uh should be the first possibility I think >> and any suppose this baby died uh uh due to the same condition. What could be the possibility?

[01:24:22]>> Pasure.

[01:24:24]>> No. If it is that baby was also having pic what would be the cause of death whether that baby was also having this sort of echimotic patches and all?

[01:24:39]>> No intraanial hemorrhage can be possibility.

[01:24:45]>> Okay.

[01:24:47]Uh sir sir I am asking to push sir because we were usually telling about the common diagnosis and torch is a very important differential diagnosis for most of the conditions and saying progress even though it appears like pfic can we say the pfic as a first diagnosis other than before saying about the torch like cm and all some especially cmod sir. Yes after discussion because when we consider the diagnosis of course common things always common but in that group there are certain valid argument first one against infections the rubella other toxoplasma and all are out because of the many reasons what entity we consider is a megala virus but it will never be progressing like this waxing baning uh cause is unlikely.

[01:25:49]It will be uh just like Shana said it will be progressively worsening uh situation in between normalization again going up. It's it's almost unlikely. That is why that also goes down in the list. Once you discuss and push that down in the list, you are justifiing going for a rare diagnosis.

[01:26:16]delay the dysmorphism is not the so cardiac problem is not the so that also we are considering but you're throwing it down in the list that's how even though PFSI is a rare condition there are many entities which support that there's a strong family history constrain unity and other features are all supporting that's why you are considering the rare one as the first possibility here you are justified in considering Even though it is one we can say about just about this and then we can say it is because he is having 2.5 kg because many points are against it but I think it can be told and there are points against it. So I am considering PFIC as that because many of the pediatricians sometimes may not like saying PFIC as a first diagnosis >> we were study even we didn't get hear about this condition but the problem here marriage in death and also recurrence and and that is that is like you consider okay >> just because five month old five month old child dying is it due to the liver disease I don't hear that from the history he died but the cause is not known and is it due to the liver disease and no family members are having liver disease and of course there are many points in favor of PFIC but but of course there are some many some points against also >> one point when you're considering the uh diagnosis uh when the patient is having asitis and edema we are attributing it to hypoalmia only a bit unusual because for the asitis you expect the sag so for hypertension element also is likely to be there clinically you didn't get the spleen there is no carpet medic so you you can't say it is hypertension is there but most likely hypoalmia aloneis is less likely So you need the Doppler also in this case is very important in the in the in the investigation >> especially because there is no edema is not that much market sus what s is a is a possibility of course ultrasound also ultrasound and other test for portal hypertention has to be evaluated in this child >> okay quick investigation man already 9:00 near >> sir investigation in we do the uh routine blood CBC it to look for any anemia we want to know if there is any thrombocytoenia then the liver function test to know the degree of choleistasis and the degree of the liver injury and then ptr to see the coagulation status then if possible uh we could do a ggt gamma glutam transferase because in some case there are causes with low gtt and high gtt choleasis uh then Uh we could do a USC abdomen sir USC abdomen to know the echo texture of the liver to know the degree of port hypertension if present in basic investigations only ultrasound should be done because not for this any child to rule out other treatable causes like cyst anatomy can also be intrahypatic dation or extrahypatic where is the problem is there a gall stones so is there any carol disease So you have to find out we can find out lot of things in the ultrasound not only the portal hypertension but you can look for other causes of the college stasis in from the ultrasound.

[01:30:12]>> Then what is triangular sign?

[01:30:16]Triang management for now we would give supportive management >> genetic studies genetic studies >> genetic studies >> important because that usually nowadays most of the time you'll be finally the answer will be by the genetic studies because you'll be nowadays it's the era of genetics and many of the diseases can be detected very accurately by the genetic studies but after saying all these things the genetics are you have to say because many of the diseases can be found out by the genetics.

[01:30:54]>> Yes sir. For uh sir then uh as part of the management we would give uh supportive management. Uh our sodium acid can be given for the itching. Then nutritional management we would have to give uh protein and carbohydrate at almost 130% of daily requirement. Then vitamin A.

[01:31:16]>> What was the investigation in this case?

[01:31:18]You just tell that.

[01:31:19]>> S investigation sir even the CBC was showing anemia plate was normal microitic hypogrammia was there. Then the total protein and al was 3.6 relatively then total direct showed 12.4 and 7.56.

[01:31:38]Uh SG SGP showed a mild elevation.

[01:31:41]Electrolytes are normal.

[01:31:44]Yuri was 45 but he was also having some dehydr dehydrated at that time. Then ceroplas was sent that was 65 then viral markers were negative then the ptr INR was 4.21 PT 51.7 you reducing substance that was negative then uh US abdomen liver was 10.8 8 cm mildly coco texture smooth surface sharp margin so the gallbladder was contracted pancreas was normal spleen was 7.4 cm the kidneys uh right kidney 7.5 to 2.8 Okay. Left six pointer and two pointer. Your bladder was partially distended. So we had done this much investigation here. Actually a very short stay in your hospital.

[01:32:27]>> What is the cause for anemia from the investigation?

[01:32:31]>> Yeah. From the investigation micro could be due to iron deficiency. Sir, >> you could have done some other test to know the cause for anemia.

[01:32:38]>> Very.

[01:32:43]>> Yes. Definitely the child is having features of liver failure >> because chronic as well as acute because protein is less and albamine of course has not come down but the ptr is much prolonged >> no suppose it is not responding to the medical management so you will be treating the liver failure as well and suppose the proritus and the cholestatic symptoms are not relieved by the your arodoxyolic acid and the diagnosis is PFIC. Do you have any other option?

[01:33:18]>> We could counil for a liver transplant.

[01:33:21]>> No, there are many other things you can do before the liver transplantation because I am saying not hepattoellar failure. Of course, heellar failure is there started to definitely go for the liver transplantation. But suppose there is no heptoellar failure only the cholestas is there and it is not responding to your sodium oxyolic acid.

[01:33:41]So what are the other options?

[01:33:44]So there is detoxification single pass album and diialysis Mars.

[01:33:51]So there is I think there is some other drugs thing is there then surgical surgical biary diversion so that so that can be done that is said definitely it's said in pfic the management of polyasis in pfic definitely the child is showing features of heptoella failure of course sometimes may be an acute thing which can subside when the the subsequent you treat but sometimes it may be progress dressing definitely you have to go for but only polystasis you have to have the other options and it is not with the surgical also even for the polyasis if it is not controlled with medical and surgical then you can definitely go for liver transplant >> that is what it is >> I know in the investigation which you are showing hemoglobin we have discussed that again uh type of anemia it's very important because feritin is important it need not always be due to loss anemia. There can be a hemolytic element due to multiple reasons in this case especially other vicences also sometimes that is on reticular site count and peripm is important and in the investigation albamin is a little because by the time you're attributing everything including asitis also it is due to hypo albinoria but 3.6 is not that low to produce edema. So that also looks looks a little odd when you are doing uh this thing any disorder this is not enough you need to tell alkaline phosphate is 332 there you need to tell what is the normal for that age because but for your lab and for the age 332 value per say is not enough then all alkaline phosphates in these situations it should be accompanied with the GGT >> and the ratio All these things are important in any cholester GGT and ratio and always lipid profile including cholesterol because the fatty acid disorders you are considering uh this I mean the bile disorders. So all the uh investigations uh you need to do.

[01:36:14]Then the next you see next slide here again you go back to your clinical features ultrasound abdomen you got a liver span of 10.8 8.

[01:36:26]>> Yes sir.

[01:36:26]>> You got only 6.5.

[01:36:29]>> Yes sir.

[01:36:29]>> So this is important. So it's a little almost normal or a little enlarge. It's not shenan for that age group. That is important. Co ecoture and other things are important. The most important thing is not mentioned. Why you didn't miss that? What you are interested is the Doppler. You didn't mention at all about that.

[01:36:50]>> Don't be happy with what they are reporting. You should have idea what I'm I need is the Doppler that is not mentioned here. So why you happy with that?

[01:37:06]What you're looking for is there is hypo.

[01:37:11]So very very important asitis reasons is there hypertension. there any asitis low sag and high sag asitis okay >> unless there is an infection so very very important your discussion in the asitis you'll be in trouble because you you don't have an explanation for this thing the spleen size in this case is a little on the higher 74 is so important important okay >> actually there is noitis in the ultrasound Free mild free fluid.

[01:38:06]Okay.

[01:38:12]Anybody wants to comment on this and I know you discussed well. Okay. The seniors also contribute sinly.

[01:38:50]I know you are presented well and was Actually it is a JR2 he has presented very well with confident in his findings also.

[01:39:00]>> So >> what was the actual diagnosis any idea?

[01:39:04]Sir outside hospital we hadn't done much they actually come here hoping for a second opinion since they are council for liver trans outside for that the genetic test was done they got a myof gene mutation variant of unknown significance from that was the p6 mutation okay >> what about liver biopsy have you done a liver biopsy for this sir biopsy >> anybody has because lower biopsy you can do so many things imunostochemistry electron microscopy so it is actually advanced so you can have see here also after the genetic you are still in confusion you don't know what it is of course have you discussion with shar yes sirh Huh?

[01:40:11]Because again actually something has to be done otherwise we lose the child.

[01:40:23]Yes. Thank you. Thank you very much.

[01:40:26]Yeah. So thank you sir everybody. Thank you very much.

[01:40:33]>> Thank you.

[01:40:34]>> Late late. Okay.

[01:40:38]>> Sirujit.

[01:40:40]Yes.

[01:40:48]Thanks.

[01:40:56]actually JR3s were requesting for a long longest discussion on GAT. So why I chose this? So already discussed in our department but it was a very extended and very useful discussion. So it will be in our um archiefs. So our finalists can go through once their theories are over. I think um they are more worried about theory that that's why attendance is now less I think okay and once again I'm thanking Shana and Ajit Krishna S for their excellent discussion push um mandas for their contribution and uh for an um for special um come forward for presentation >> for his brave attempt and um sur for men well and once again thanking all. Okay.

[01:41:58]Thank you. Good day. a friend.