A Treatable Refractory Epilepsy: A Case Report

Introduction Biotinidase deficiency is a life threatening inborn error of metabolism specially when delayed in diagnosis. We report a 2-month-old male infant that presented with refractory infantile spasm, alopecia and seborrheic dermatitis. With a high suspicion of the biotinidase deficiency we started biotin 10 mg daily orally before definite diagnosis was made. Rapid treatment was life-saving and all complications disappeared rapidly. With this report we tried to explain the clinical manifestations of biotinidase deficiency and show the importance of early diagnosis and treatment in resolving the complications.  

کلیدواژه ها:

Biotinidase Deficiency ، Biotin ، Refractory Epilepsy ، inborn error of metabolism