This Rare Disorder Causes Children to Bite Themselves 😨

Ajouté : 2026-05-23

[00:00:01]Hello everyone. Today is the day four of 100 day clinical posting challenge and I've come with a question today.

[00:00:06]A 5-year-old boy presented with the delayed milestones, abnormal movements, and repeated self-mutilating behavior that is biting fingers and lower lips.

[00:00:16]What syndrome do you think of?

[00:00:19]Yes, it is Lesch-Nyhan syndrome. And here, this is a X-linked recessive disorder in which there is HGPRT enzyme deficiency due to which the purine salvage pathway is affected and as a result there is high uric acid production.

[00:00:35]Due to this uric acid production, there is neurological dysfunction and there is loss of behavior control in the children and there it leads to self-biting, self-harming behavior.

[00:00:48]And you also find the uric acid crystals orange sand-like crystals in the diapers of the children.

[00:00:54]For treatment, treatment for this condition is allopurinol and supportive treatment. Allopurinol only controls the hyperuric acid levels and uh the neurological uh deficits, dysfunctions cannot be controlled by this allopurinol and supportive therapy is encouraged.

[00:01:15]And that's it for today.