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Titolo:
A CHINESE GIRL WITH LEIGH-SYNDROME - EFFECT OF BOTULINUM TOXIN ON DYSTONIA
Autore:
LEUNG TF; HUI J; YEUNG WL; GOH K;
Indirizzi:
HOSP SICK CHILDREN,DIV IMMUNOL & ALLERGY,555 UNIV AVE TORONTO ON M5G 1X8 CANADA CHINESE UNIV HONG KONG,PRINCE WALES HOSP,DEPT PAEDIAT HONG KONG HONG KONG CHINESE UNIV HONG KONG,PRINCE WALES HOSP,DEPT SURG,DIV NEUROSURG HONGKONG HONG KONG
Titolo Testata:
Journal of paediatrics and child health
fascicolo: 5, volume: 34, anno: 1998,
pagine: 480 - 482
SICI:
1034-4810(1998)34:5<480:ACGWL->2.0.ZU;2-2
Fonte:
ISI
Lingua:
ENG
Soggetto:
COENZYME-Q REDUCTASE; CEREBRAL-PALSY; COMPLEX-I; SPASTICITY; MANAGEMENT; DEFICIENCY; CHILDREN; DISEASE; LIMB;
Keywords:
BLADDER DYSTONIA; BOTULINUM TOXIN; LEIGH SYNDROME; MUSCLE DYSTONIA; RESPIRATORY CHAIN COMPLEX I DEFICIENCY;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
16
Recensione:
Indirizzi per estratti:
Citazione:
T.F. Leung et al., "A CHINESE GIRL WITH LEIGH-SYNDROME - EFFECT OF BOTULINUM TOXIN ON DYSTONIA", Journal of paediatrics and child health, 34(5), 1998, pp. 480-482

Abstract

Leigh syndrome is a form of neurodegenerative disease which is associated with intracranial infarcts. The diagnosis is made by finding hyperlactacidaemia together with cerebral infarcts on neuroimaging. We report a 4-year-old Chinese girl with Leigh syndrome who had several atypical features. She presented with generalized dystonia and developmental regression. In addition, she suffered from an unusual feature of bladder dystonia. This patient appeared to be suffering from respiratorychain complex I deficiency from studies on cultured skin fibroblasts. Assays for respiratory chain enzymes as well as mitochondrial DNA point mutations and major deletions in muscle were normal. Dystonia persisted despite treatments with muscle relaxants and a ketogenic diet. Intramuscular botulinum toxin resulted in significant relief of dystonia.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 04/04/20 alle ore 12:31:01