West Syndrome Secondary to Biotinidase Deficiency about a Case

作     者：Madiha Abouelarais Nour Mekaoui Fatima Zohra Oudghiri Khaoula Mammad Lamia Karboubi Badr Sououd Benjelloun Dakhama 

作者机构：Pediatric Medical Emergency Department Rabat Children’s Hospital University Hospital of Ibn Sina Faculty of Medicine and Pharmacy Mohammed V University Rabat Morocco Unit of Neuroscience and Applied Nutrition Laboratory of Nutrition Health and Environment Department of Biology Faculty of Science Kenitra Morocco 

出 版 物：《Neuroscience & Medicine》 (神经系统科学与医药（英文）)

年 卷 期：2017年第8卷第3期

页      面：29-32页

学科分类：1002[医学-临床医学] 100214[医学-肿瘤学] 10[医学] 

主　　题：West Syndrome Secondary One Case Biotinidase Defiency 

摘      要：Biotinidase deficiency is an abnormality of biotin metabolism which is manifested by neurological, cutaneous, ophthalmological and auditory signs. It has been described as a cause of West syndrome, but there are few observations that report an association between these latter two. We report the observation of an 18-month old infant born from a first-degree consanguineous marriage, followed since the age of 2 months and half for West syndrome associated with alopecia, also an eczema and deafness in whom the etiological investigation was in favor of a biotinidase deficiency. Thus treatment with biotin resulted in a marked clinical improvement.