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 sta...

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Bibliographic Details
Main Authors: Javad Akhondian, Farah Ashrafzadeh, Mehran Beiraghi, Forugh Rakhshani
Format: Article
Language:English
Published: Mashhad University of Medical Sciences 2014-01-01
Series:International Journal of Pediatrics
Subjects:
Online Access:http://ijp.mums.ac.ir/pdf_2126_dfbff82c3ce73a8f39df5b47c8e0aed1.html