| Popis: |
Background: A Wu type X-linked syndromic intellectual developmental disorder is caused by mutations in the GRIA3 gene This disorder is characterised by autistic features, hyporeflexia, intellectual disability and facial dysmorphism. Case report: The patient, a 4 year old male child, came with chief complaints of runny nose and tooth ache for 5 days. There was a past history of frequent falls, myoclonic jerks, tongue fibrillation, shudder attacks and delayed developmental milestones. The child at presention did not have myoclonic jerks or frequent falls. Family history is significant for maternal aunt presenting with similar complaints. On examination, protruding tongue, depressed nasal bridge, high arched palate, short fingers, right eye divergent squint, cafe-au-lait spot on the right knee, deep tendon reflexes- sluggish on both upper and lower limbs, power of 3/5 and hypotonia was observed in all four limbs with plantar- extensor bilaterally. Conclusion: On DNA testing, a missense mutation of GRIA 3 gene was noted. He was treated on a multidisciplinary approach and was admitted in a special school where occupational therapy, speech therapy, behavioural therapy and physiotherapy was given. |
