TITLE:
West Syndrome Secondary to Biotinidase Deficiency about a Case
AUTHORS:
Madiha Abouelarais, Nour Mekaoui, Fatima Zohra Oudghiri, Khaoula Mammad, Lamia Karboubi, Badr Sououd Benjelloun Dakhama
KEYWORDS:
West Syndrome Secondary, One Case, Biotinidase Defiency
JOURNAL NAME:
Neuroscience and Medicine,
Vol.8 No.3,
September
28,
2017
ABSTRACT: 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.