Kearns-Sayre Sundrome "plus": classical clinical findings and dystonia
Arq. neuropsiquiatr
; 57(4): 1017-23, dez. 1999. ilus
Article
em En
| LILACS
| ID: lil-249304
Biblioteca responsável:
BR1.1
ABSTRACT
We present a boy of eight years of age with symptoms of Kearns-Sayre syndrome (KSS) characterised by ophthalmoparesis, palpebral ptosis, mitochondrial myopathy, pigmentous retinitis, associated to short stature, cerebellar signs, cardiac blockade, diabetes melitus, elevated cerebrospinal fluid protein concentration, and focal hand and foot dystonia. The skeletal muscle biopsy demonstrated ragged red fibers, cytochrome C oxidase-negative and succinate dehydrogenase-positive fibers. The magnetic resonance imaging showed symmetrical signal alteration in tegmentum of brain stem, pallidum and thalamus. Mitochondrial DNA analysis from skeletal muscle showed a deletion in heteroplasmic condition. The association of dystonia to KSS, confirmed by molecular analysis, is first described in this case, and the importance of oxidative phosphorylation defects in the physiopathogenesis of this type of movement disorder is stressed.
Texto completo:
1
Índice:
LILACS
Assunto principal:
Síndrome de Kearns-Sayre
/
Distonia
Tipo de estudo:
Diagnostic_studies
Limite:
Aged
/
Child
/
Humans
/
Male
Idioma:
En
Revista:
Arq. neuropsiquiatr
Assunto da revista:
NEUROLOGIA
/
PSIQUIATRIA
Ano de publicação:
1999
Tipo de documento:
Article