a treatable refractory epilepsy: a case report

نویسندگان

javad akhondian professor of pediatric neurology ward, faculty of medicine,mashhad university of medical sciences, mashhad, iran.

farah ashrafzadeh professor of pediatric neurology ward, faculty of medicine,mashhad university of medical sciences, mashhad, iran.

mehran beiraghi assistant professor of pediatric neurology ward, faculty of medicine,mashhad university of medical sciences, mashhad, iran.

forugh rakhshani assistant professor of pediatric neurology ward, faculty of medicine,mashhad university of medical sciences, mashhad, iran.

چکیده

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.

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عنوان ژورنال:
international journal of pediatrics

جلد ۲، شماره ۱، صفحات ۹۳-۹۶

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