Spinal cord demyelination in biotinidase deficiency: a case report
KMJ-Kuwait Medical Journal. 2012; 44 (2): 135-138
em Inglês
| IMEMR
| ID: emr-144602
ABSTRACT
Biotinidase deficiency is a treatable cause of severe neurological disorders and skin disorders. Most symptomatic patients will have neurological, cutaneous manifestations and typical organic aciduria. Spinal cord involvement is a rare manifestation of this disease and is commonly unrecognized. We report a previously healthy boy who presented at the age of 28 months with recurrent ataxia and mild alopecia, and MRI evidence of spinal cord demyelination. Biotinidase deficiency was confirmed later. Supplementation with biotin resulted in disappearance of the symptoms and normalization of the MRI spinal cord changes. Biotinidase deficiency, as a treatable condition, should be considered in the differential diagnosis in any child who presents with neurological symptoms and spinal cord demyelination with or without alopecia
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Índice:
IMEMR (Mediterrâneo Oriental)
Assunto principal:
Ataxia
/
Medula Espinal
/
Doenças da Medula Espinal
/
Doenças Desmielinizantes
/
Biotinidase
/
Alopecia
Tipo de estudo:
Relato de Casos
Limite:
Humanos
/
Masculino
Idioma:
Inglês
Revista:
Kuwait Med. J.
Ano de publicação:
2012
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