Pediatric neurology
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Pediatric neurology · May 1991
Case ReportsLeber congenital amaurosis in siblings with diffuse dysmyelination.
Two brothers are described with the previously unrecognized combination of Leber amaurosis and abnormal myelin detected by magnetic resonance imaging. Both have evidence of delayed psychomotor development and one has autistic features. A possible relationship with infantile autism or a peroxisomal dysfunction syndrome is explored. No peroxisomal defect was found in these patients.
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Pediatric neurology · May 1991
Case ReportsRhabdomyolysis in children: a 3-year retrospective study.
The case reports of 4 pediatric patients illustrate the complex clinical scenarios in which childhood rhabdomyolysis/myoglobinuria occurs. Children ranged in age from 8-18 years. Presumed etiologies of rhabdomyolysis/myoglobinuria included Neisseria sepsis, exertion-related episodes, dialysis disequilibrium, and diabetic ketoacidosis. No child developed respiratory or renal failure. all children were discharged with normal muscle power, indicating the benign nature of this disease and the importance of aggressive management.