Neuroscience & Medicine, 2017, 8, 29-32 http://www.scirp.org/journal/nm ISSN Online: 2158-2947 ISSN Print: 2158-2912 DOI: 10.4236/nm.2017.83004 Sep. 28, 2017 29 Neuroscience & Medicine West Syndrome Secondary to Biotinidase Deficiency about a Case Madiha Abouelarais 1 , Nour Mekaoui 1 , Fatima Zohra Oudghiri 1 , Khaoula Mammad 2 , Lamia Karboubi 1 , Badr Sououd Benjelloun Dakhama 1 1 Pediatric Medical Emergency Department, Rabat Children’s Hospital, University Hospital of Ibn Sina, Faculty of Medicine and Pharmacy, Mohammed V University, Rabat, Morocco 2 Unit of Neuroscience and Applied Nutrition, Laboratory of Nutrition, Health and Environment, Department of Biology, Faculty of Science, Kenitra, Morocco Abstract Biotinidase deficiency is an abnormality of biotin metabolism which is mani- fested 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 investiga- tion was in favor of a biotinidase deficiency. Thus treatment with biotin re- sulted in a marked clinical improvement. Keywords West Syndrome Secondary, One Case, Biotinidase Defiency 1. Introduction The biotinidase deficiency is an autosomal recessive hereditary abnormality, and biotin metabolism, resulting in the inability to recycle biotin from its dietary and endogenous sources [1]. It is due to mutations in the BTD gene of biotin me- tabolism, this disorder, if untreated, can affect many parts of the body and cause delayed development. While the incidence is estimated at 1/60,000 newborns [2], the clinical manifestations usually appear between the 2 nd and 5 th month of life, and a convulsions are almost constant and begin within the first 3 months of life. The clinical features that should guide the diagnosis are the presence of severe atopic dermatitis, alopecia, deafness, optic atrophy and deep hypotonia espe- How to cite this paper: Abouelarais, M., Mekaoui, N., Oudghiri, F.Z., Mammad, K., Karboubi, L. and Dakhama, B.S.B. (2017) West Syndrome Secondary to Biotini dase Deficiency about a Case. Neuroscience & Medicine, 8, 29-32. https://doi.org/10.4236/nm.2017.83004 Received: August 28, 2017 Accepted: September 25, 2017 Published: September 28, 2017 Copyright © 2017 by authors and Scientific Research Publishing Inc. This work is licensed under the Creative Commons Attribution International License (CC BY 4.0). http://creativecommons.org/licenses/by/4.0/ Open Access