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Titolo:
A child with Muscle-Eye-Brain disease - Ophthalmological and neurological characteristics
Autore:
Fahnehjelm, KT; Ygge, J; Engman, ML; Mosskin, M; Santavuori, P; Malm, G;
Indirizzi:
Huddinge Univ Hosp, Karolinska Inst, Dept Clin Sci, Sect Paediat Ophthalmol, S-14186 Huddinge, Sweden Huddinge Univ Hosp Huddinge Sweden S-14186 mol, S-14186 Huddinge, Sweden Huddinge Univ Hosp, Karolinska Inst, Dept Clin Sci, Paediat Sect, S-14186 Huddinge, Sweden Huddinge Univ Hosp Huddinge Sweden S-14186 ect, S-14186 Huddinge, Sweden Karolinska Univ Hosp, Karolinska Inst, Dept Neuroradiol, Solna, Sweden Karolinska Univ Hosp Solna Sweden Inst, Dept Neuroradiol, Solna, Sweden Univ Helsinki, Hosp Children & Adolescents, Dept Child Neurol, Helsinki, Finland Univ Helsinki Helsinki Finland ts, Dept Child Neurol, Helsinki, Finland
Titolo Testata:
ACTA OPHTHALMOLOGICA SCANDINAVICA
fascicolo: 1, volume: 79, anno: 2001,
pagine: 72 -
SICI:
1395-3907(200102)79:1<72:ACWMD->2.0.ZU;2-A
Fonte:
ISI
Lingua:
ENG
Soggetto:
WALKER-WARBURG-SYNDROME; CONGENITAL MUSCULAR-DYSTROPHY; FUKUYAMA-TYPE; OCULAR FINDINGS; MEB DISEASE;
Keywords:
Muscle-Eye-Brain Disease; myopia; retinal degeneration; migration disorder;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
20
Recensione:
Indirizzi per estratti:
Indirizzo: Fahnehjelm, KT Huddinge Univ Hosp, Karolinska Inst, Dept Clin Sci, Sect Paediat Ophthalmol, B54, S-14186 Huddinge, Sweden Huddinge Univ Hosp B54 Huddinge Sweden S-14186 nge, Sweden
Citazione:
K.T. Fahnehjelm et al., "A child with Muscle-Eye-Brain disease - Ophthalmological and neurological characteristics", ACT OPHTH S, 79(1), 2001, pp. 72

Abstract

Purpose: To describe a child with Muscle-Eye-Brain disease (MEB), one of three types of congenital muscular dystrophy associated with ocular abnormalities. Methods: Case report. Results: The child showed severe visual impairment due to progressive myopia and retinal degeneration, a pachygyria-type of migration disorder of thebrain with a nodular cortical surface, i.e. cobblestone cortex, as well asmuscular weakness and severe mental retardation. Conclusion: Ophthalmological assessments are important to help to diagnoseand follow children with congenital muscular dystrophy.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 19/01/20 alle ore 00:31:36