Deep brain stimulation as treatment for dystonic storm in pantothenate kinase-associated neurodegeneration syndrome: case report of a patient with homozygous C.628 2 T > G mutation of the PANK2 gene.
Acta Neurochir (Wien)
; 157(9): 1513-6; discussion 1516-7, 2015 Sep.
Article
en En
| MEDLINE
| ID: mdl-26223911
Pantothenate kinase-associated neurodegeneration (PKAN) syndrome is an autosomal-recessive neurodegenerative disease that causes progressive generalized dystonia. Currently, the disorder remains pharmacologically intractable. Herein we report the first case in which deep brain stimulation helped to relieve dystonic storm in a patient with PKAN syndrome who had homozygous c.628 2 T > G mutation of the PANK2 gene. A 10-year-old boy with PKAN disease presented with dystonic storm and was admitted to the emergency department. Examination revealed generalized dystonia and impaired breathing due to involvement of the respiratory muscles. The patient underwent surgery for bilateral globus pallidus internus deep brain stimulation. The patient showed marked response to treatment.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Fosfotransferasas (Aceptor de Grupo Alcohol)
/
Mutación Missense
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Estimulación Encefálica Profunda
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Neurodegeneración Asociada a Pantotenato Quinasa
Tipo de estudio:
Risk_factors_studies
Límite:
Child
/
Humans
/
Male
Idioma:
En
Revista:
Acta Neurochir (Wien)
Año:
2015
Tipo del documento:
Article
País de afiliación:
Turquía
Pais de publicación:
Austria