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 o...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.展开更多
文摘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.
