3-year Follow-up of a Menkes Disease Patient / 대한소아신경학회지
Journal of the Korean Child Neurology Society
;
(4): 94-101, 2007.
Artigo
em Coreano
| WPRIM
| ID: wpr-128288
ABSTRACT
Menkes disease is a rare fatal X-linked recessive disorder characterized by a generalized defect in intracelluar copper transport. The clinical features which arise from copper deficiency include progressive neurologic deterioration, epilepsy, hair and connective tissue abnormalities. Menkes disease is caused by mutations in the gene encoding the Menkes protein(ATP7A, copper transporting P-type ATPase), which is located on the long arm 13 of the X-chromosome. ATP7A mutations are found in 60 to 70% of the patients. We have experienced a case of Menkes disease in a 6-month-old male who showed developmental delay, myoclonic seizures and kinky hair. The serum copper and ceruloplasmin levels were low and the missense mutation(c.3352G>A, resulting in p.G1118S) in exon 17 of ATP7A gene was found. During 3-year follow-up, he regressed developmentally and showed brain atrophy, multiple bladder deverticula, and bony deformities.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Braço
/
Atrofia
/
Convulsões
/
Anormalidades Congênitas
/
Bexiga Urinária
/
Encéfalo
/
Ceruloplasmina
/
Éxons
/
Seguimentos
/
Tecido Conjuntivo
Tipo de estudo:
Estudo observacional
/
Estudo prognóstico
Limite:
Humanos
/
Lactente
/
Masculino
Idioma:
Coreano
Revista:
Journal of the Korean Child Neurology Society
Ano de publicação:
2007
Tipo de documento:
Artigo
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