Hallervorden Spatz disease.
Indian J Pediatr
;
2003 Jun; 70(6): 513-4
Artigo
em Inglês
| IMSEAR
| ID: sea-80342
ABSTRACT
A nine-month-old infant presented with fever and loss of milestones. Examination revealed intermittent rigidity and dystonic movements. Magnetic resonance imaging (MRI) shows decreased signal intensity in globus pallidus and substantia nigra, indicative of iron deposition, suggesting Hallervorden Spatz Disease. The dopamine-neuromelanine system has been postulated to be the possible pathogenesis. Gene mapping has located the defect to be in the coding sequence of a gene called PANK-2. Prenatal diagnosis is possible. The case is reported because of its rarity and early presentation.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Feminino
/
Humanos
/
Imageamento por Ressonância Magnética
/
Transtornos Cognitivos
/
Consanguinidade
/
Distonia
/
Neurodegeneração Associada a Pantotenato-Quinase
/
Lactente
Idioma:
Inglês
Revista:
Indian J Pediatr
Ano de publicação:
2003
Tipo de documento:
Artigo
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