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. ,
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.
