A 2-year-old boy presents with progressive dysarthria, dystonia, toe-walking, and trunk arching. Vital signs: BP 95/60, HR 98, RR 22, Temp 37°C, SpO2 98%. He denies recent fever or headache. Slit lamp examination reveals Kayser-Fleischer rings. Laboratory studies show serum ceruloplasmin 8 mg/dL (normal 20-40), elevated 24-hour urinary copper excretion at 180 mcg/day, and normal liver function tests. Which of the following is the most likely diagnosis?
- A)Mitochondrial cytopathy
- B)Cerebral palsy
- C)Niemann-Pick disease
- D)Gaucher disease
- E)Wilson diseaseGABARITO
Explicação
Wilson disease is an autosomal recessive copper metabolism disorder caused by ATP7B gene mutations. It presents with dystonia, dysarthria, and Kayser-Fleischer rings (copper deposition in Descemet membrane). Low ceruloplasmin and elevated urinary copper are di... Ver explicação completa e trilha adaptativa →