Epilepsy in biotinidase deficiency
Abstract
The specific features of epilepsy are analyzed in three siblings with biotinidase deficiency. The first sibling aged 10 months died in status epilepticus. The second baby was diagnosed with the disease at the age of 5 months. In the third sibling, pathogenetic treatment was started at birth. Emphasis is laid on the importance of early diagnosis and prompt therapy with biotin.
About the Authors
A. G. Malov
E.A. Wagner Perm State Medical Academy
Russian Federation
Russian Federation
E. S. Vasilyeva
E.A. Wagner Perm State Medical Academy
Russian Federation
Russian Federation
E. B. Serebrennikova
E.A. Wagner Perm State Medical Academy
Russian Federation
Russian Federation
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Review
For citations:
Malov A.G., Vasilyeva E.S., Serebrennikova E.B. Epilepsy in biotinidase deficiency. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2014;59(5):63-68. (In Russ.)
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