Journal:
:international journal of pediatrics
0
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.
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-savin...