Pantothenate kinase associated neurodegeneration (Hallervorden-Spatz syndrome).
Indian J Pediatr
;
2005 Mar; 72(3): 261-3
Artículo
en Inglés
| 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:
Disponible
Índice:
IMSEAR (Asia Sudoriental)
Asunto principal:
Encéfalo
/
Femenino
/
Humanos
/
Imagen por Resonancia Magnética
/
Niño
/
Fosfotransferasas (Aceptor de Grupo Alcohol)
/
Errores Diagnósticos
/
Neurodegeneración Asociada a Pantotenato Quinasa
Tipo de estudio:
Estudio diagnóstico
Idioma:
Inglés
Revista:
Indian J Pediatr
Año:
2005
Tipo del documento:
Artículo
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