Title of article
A Treatable Refractory Epilepsy: A Case Report
Author/Authors
Akhondian، Javad نويسنده , , Ashrafzadeh، Farah نويسنده , , BEIRAGHI TOOSI، Mehran نويسنده Fellow of Child Neurology, Ghaem Medical Center Mashhad University of Medical Sciences, Mashhad, Iran , , Rakhshani، Forugh نويسنده Assistant Professor of Pediatric Neurology Ward, Faculty of Medicine,Mashhad University of Medical Sciences, Mashhad, Iran. ,
Issue Information
فصلنامه با شماره پیاپی 2 سال 2014
Pages
4
From page
93
To page
96
Abstract
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.
Journal title
International Journal of Pediatrics
Serial Year
2014
Journal title
International Journal of Pediatrics
Record number
1041657
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