Abstract
A female infant with medium-chain acyl-CoA dehyrogenase (MCAD) deficiency who was diagnosed with Rett syndrome at 3.5 years is reported from Twenteborg Hospital, Almelo, and Wilhelmina Kinderziekenhuis, Utrecht, The Netherlands.
Highlights
Deficiency who was diagnosed with Rett syndrome at 3.5 years is reported from Twenteborg Hospital, Almelo, and Wilhelmina Kinderziekenhuis, Utrecht, The Netherlands
At 3 years she was mentally retarded with autistic features, and the EEG showed bilateral spikes and spike wave activity and a slow waking background rhythm
The authors found no reason to propose a causal relationship between medium-chain acyl-CoA dehyrogenase (MCAD) deficiency and Rett syndrome
Summary
Deficiency who was diagnosed with Rett syndrome at 3.5 years is reported from Twenteborg Hospital, Almelo, and Wilhelmina Kinderziekenhuis, Utrecht, The Netherlands. Combined therapy with acetazolamide (37 - 100 mg/kg/daily) and furosemide (1 mg/kg/daily) was effective in treating raised intracranial pressure in 8 children with pseudotumor cerebri at the Department of Pediatrics, University of Stellenbosch and Tygerberg Hospital, Republic of South Africa Repeated lumbar cerebrospinal fluid pressure monitoring was used to evaluate response to therapy, but clinical monitoring correlated well and would be adequate in most children.
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