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Titolo:
Merosin-deficient congenital muscular dystrophy: the spectrum of brain involvement on magnetic resonance imaging
Autore:
Philpot, J; Cowan, F; Pennock, J; Sewry, C; Dubowitz, V; Bydder, G; Muntoni, F;
Indirizzi:
Hammersmithonosp, Imperial Coll Med, Dept Paediat, Neuromuscular Unit, Lond Hammersmith Hosp London England W12 0NN aediat, Neuromuscular Unit, Lond Hammersmith Hosp, Imperial Sch Med, Robert Steiner Magnet Resonance Imaging Hammersmith Hosp London England W12 0NN Steiner Magnet Resonance Imaging
Titolo Testata:
NEUROMUSCULAR DISORDERS
fascicolo: 2, volume: 9, anno: 1999,
pagine: 81 - 85
SICI:
0960-8966(199903)9:2<81:MCMDTS>2.0.ZU;2-F
Fonte:
ISI
Lingua:
ENG
Soggetto:
NERVOUS-SYSTEM INVOLVEMENT; ENMC SPONSORED WORKSHOP; LAMININ ALPHA-2 CHAIN; CLINICAL PHENOTYPE; CORTICAL DYSPLASIA; ABNORMALITIES; NETHERLANDS; EXPRESSION; MUSCLE;
Keywords:
merosin-deficient congenital muscular dystrophy; magnetic resonance imaging; brain;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
25
Recensione:
Indirizzi per estratti:
Indirizzo: Muntoni, F Hammersmithanesp, Imperial Coll Med, Dept Paediat, Neuromuscular Unit, Du C Hammersmith Hosp Du Cane Rd London England W12 0NN Unit, Du C
Citazione:
J. Philpot et al., "Merosin-deficient congenital muscular dystrophy: the spectrum of brain involvement on magnetic resonance imaging", NEUROMUSC D, 9(2), 1999, pp. 81-85

Abstract

Children with merosin-deficient congenital muscular dystrophy (CMD) have striking white matter changes on T-2 weighted brain magnetic resonance imaging (MRI). There have been occasional cases with structural abnormalities, mainly involving the occipital cortex. We report our brain imaging findings in 14 children with merosin-deficient CMD. Ten cases had a severe reductionor absence of merosin on immunocytochemistry and four cases had partial reduction. All 14 cases had white matter changes, which appeared after the first 6 months of life and persisted with time. The changes were diffuse and the oldest child scanned (14 years) also showed involvement of the U fibres. Five children with total absence of merosin also had structural abnormalities. One child had moderate menial retardation and epilepsy, mainly characterised by complex partial seizures, with atypical absences, which had beendifficult to treat. Brain MRI showed marked occipital agyria and pontocerebellar hypoplasia. The gyral pattern of the rest of the brain looked normal. The four other cases, all with normal intelligence, also had cerebellar hypoplasia with variable involvement of the pens. They did not, however, have neuronal migration defects. It is recognised that several forms of congenital muscular dystrophy, namely Fukuyama CMD, muscle-eye-brain disease and Walker-Warburg syndrome, have structural brain abnormalities and associatedsevere mental retardation. Our cases demonstrate that a range of structural malformations can also be found in a significant number of children with merosin-deficient CMD. (C) 1999 Elsevier Science B.V. All rights reserved.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 07/04/20 alle ore 23:05:39