Pantothenate kinase associated neurodegeneration (Hallervorden-Spatz syndrome).
Indian J Pediatr
;
2005 Mar; 72(3): 261-3
Article
Dans Anglais
| 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.
Texte intégral:
Disponible
Indice:
IMSEAR (Asie du Sud-Est)
Sujet Principal:
Encéphale
/
Femelle
/
Humains
/
Imagerie par résonance magnétique
/
Enfant
/
Phosphotransferases (Alcohol Group Acceptor)
/
Erreurs de diagnostic
/
Neurodégénérescence associée à la pantothénate kinase
Type d'étude:
Etude diagnostique
langue:
Anglais
Texte intégral:
Indian J Pediatr
Année:
2005
Type:
Article
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