Juvenile neuronal ceroid lipofuscinosis.
Indian J Pediatr
;
2000 Sep; 67(9): 689-91
Artigo
em Inglês
| IMSEAR
| ID: sea-84697
ABSTRACT
A case of juvenile neuronal ceroid lipofuscinosis (JNCL) diagnosed on the basis of clinical features, electrophysiologic studies and skin electron microscopy is reported. JNCL was suspected on the basis of characteristic symptoms including progressive loss of vision, seizures, mental retardation and motor disabilities. Diagnosis was confirmed by neurophysiological and biopsy studies. The disease is caused by 23 different mutations in a gene recently isolated on chromosome 16 p11.2-12.1. Although universally fatal, characterisation of mutations can help in prenatal diagnosis in future pregnancies.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Diagnóstico Pré-Natal
/
Prognóstico
/
Pele
/
Glândulas Sudoríparas
/
Cromossomos Humanos Par 16
/
Humanos
/
Masculino
/
Adolescente
/
Eletrodiagnóstico
/
Lipofuscinoses Ceroides Neuronais
Tipo de estudo:
Estudo diagnóstico
/
Estudo prognóstico
Idioma:
Inglês
Revista:
Indian J Pediatr
Ano de publicação:
2000
Tipo de documento:
Artigo
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