Case Report: New Mutation at BTD Gene: Biotidinase Deficiency Presenting as Status Epilepticus Resistant to Conventional Anti-Epileptics
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- Category: Vol. 77, June 2009
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Case Report: New Mutation at BTD Gene: Biotidinase Deficiency Presenting as Status Epilepticus Resistant to Conventional Anti-Epileptics,SARAR MOHAMAD, ALI HELLANI and EBTISAM EL-MELEGY
Abstract
We report on a 2 year old girl who was born at 24 weeks of gestation. Despite having a stormy neonatal course with most of the complications of prematurity, her development was age appropriate till the end of the first year of life. Her development started to regress in the second year of life and she developed alopecia and hypopigmented skin. At 22 month of age she presented with intractable seizure that failed to respond to conventional anticonvulsant therapy. She eventually responded to biotin. The diagnosis of biotinidase deficiency was confirmed at the enzyme level. DNA study revealed a new mutation. We would like to draw the attention of pedia-tricians to think of biotinidase deficiency in cases of intractable seizure resistant to anticonvulsant therapy.