Pantothenate kinase associated neurodegeneration (Hallervorden-Spatz syndrome).
Indian J Pediatr
;
2005 Mar; 72(3): 261-3
Artigo
em Inglês
| IMSEAR
| ID: sea-82129
ABSTRACT
Hallervorden-Spatz syndrome is a rare autosomal recessive hereditary condition characterized by early onset of progressive movement alteration that include dystonia, rigidity and choreoathetosis usually associated with pyramidal signs and mental deterioration. We report two sisters where diagnosis was missed till MRI showed classic imaging findings. Mutation analysis in one, revealed homozygous mutations in the PANK 2 gene. The need for clinical recognition of this entity and differentiation of this form from other static and progressive neurological illnesses is emphasized.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Encéfalo
/
Feminino
/
Humanos
/
Imageamento por Ressonância Magnética
/
Criança
/
Fosfotransferases (Aceptor do Grupo Álcool)
/
Erros de Diagnóstico
/
Neurodegeneração Associada a Pantotenato-Quinase
Tipo de estudo:
Estudo diagnóstico
Idioma:
Inglês
Revista:
Indian J Pediatr
Ano de publicação:
2005
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS