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[Merosinā€positive congenital muscular dystrophy, white matter abnormalities, and bilateral posterior occipital cortical dysplasia]

2003Journal article Open access
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dc.contributor.authorRibeiro, V.
dc.contributor.authorMoreira, N.
dc.contributor.authorTeixeira, J.
dc.contributor.authorGuimarĆ£es, A.
dc.contributor.authorCruz, R.
dc.contributor.authorLima, L.
dc.date.accessioned2010-07-26T15:52:11Z
dc.date.available2010-07-26T15:52:11Z
dc.date.issued2003
dc.description.abstractA distrofia muscular congĆ©nita (DMC) Ć© uma das distrofias mais frequentes da infĆ¢ncia, caracterizada por fraqueza muscular neonatal, com ou sem envolvimento do Sistema Nervoso central (SNC). As DMCs foram classificadas em cinco tipos clĆ­nicos diferentes: as duas formas de DMC clĆ”ssica, com e sem dĆ©fice da cadeia a2- laminina da merosina, causada por mutaƧƵes do gene no cromossoma 6q2, a DMC de Fukuyama (forma clinicamente severa, inicialmente descrita em Japoneses e ligada ao cromossoma 9q31-33), a sĆ­ndrome Walker-Warburg e a DoenƧa mĆŗsculoolhos- cĆ©rebro, descrita em doentes Finlandeses. A maioria destas formas tem envolvimento clĆ­nico e imagiolĆ³gico severo do SNC. Este aspecto, raramente Ć© observado na DMC clĆ”ssica, particularmente na forma merosina positiva. Descrevemos o caso de uma doente de 28 anos, com sinais clĆ­nicos e histopatolĆ³gicos de DMC clĆ”ssica, nĆ£o deficiente em merosina (merosina positiva). NĆ£o tem atraso mental, mas apresenta epilepsia. A RM revela, nas ponderaƧƵes de TR longo, hipersinal difuso e simĆ©trico da substĆ¢ncia branca de ambos os hemisfĆ©rios cerebrais, atingindo tambĆ©m o corpo caloso, braƧos posteriores das cĆ”psulas internas e a via piramidal atĆ© ao mesencĆ©falo. O sinal dos gĆ¢nglios da base Ć© tambĆ©m anormal, observando-se hipersinal difuso e simĆ©trico dos corpos estriados, sobretudo da cabeƧa dos nĆŗcleos caudados. Associa-se displasia cortical occipital posterior bilateral. Este padrĆ£o imagiolĆ³gico poderĆ” corresponder a um novo Congenital muscular dystrophy merosin positive, white-matter abnormalities and bilateral occipital cortical dysplasia Congenital muscular dystrophy (CMD) is one of the most frequent dystrophies of childhood, which is commonly characterized by neonatal muscle impairment with or without clinical evidence of central nervous system involvement. CMDs were classified into five clinically distinct forms: the two classical CMDs with and without deficit of the a2 laminin chain (merosin) caused by mutations on chromosome 6q2, the Fukuyama CMD (severe form, initialy described in Japanese patients and recently linked to the chromosome 9q31-33), Walker-Warburg syndrome and the muscle-eyebrain disease described in Finnish patients. The majoraty of these forms have severe clinical and imagiological involvement of SNC. This aspect is rarely observed on classical CMD, particularly in the merosin-positive form. We descrive a case of a 28 year-old woman, with clinical and histopathological signs of classical CMD merosin-positive (no deficient), without mental retardation, but with epilepsy. MRI T2 weighted images, revealed diffuse and simetrical high signal white matter of both cerebral hemispheres, affecting corpos calosum, posterior arms of internal capsules and the piramidal tract to mesencephalon. It also disclosed diffuse and simetrical high signal of basal ganglia, specially, the head of caudate nuclei. These were associated with bilateral occipital posterior cortical dysplasia. The 190 VALENTINA T. RIBEIRO et al subtipo de DMC, hĆ­brido entre a DMC clĆ”ssica e as formas graves, embora nĆ£o se saiba qual o seu lugar no espectro. AlĆ©m disso, o nosso caso relembra o possĆ­vel envolvimento do SNC em doentes merosinapositivos, pelo que sugerimos a realizaĆ§Ć£o de RM a todos os doentes com DMC nĆ£o deficientes em merosina.pt
dc.identifier.citationActa Med Port. 2003 Mayā€Jun;16(3):189ā€92. Portuguese. PMID: 12868400pt
dc.identifier.issn1646-0758
dc.identifier.urihttp://hdl.handle.net/10400.16/336
dc.language.isoporpt
dc.publisherCentro Editor Livreiro da Ordem dos MĆ©dicospt
dc.relation.publisherversionhttp://www.actamedicaportuguesa.compt
dc.subjectDistrofia muscular congƩnitapt
dc.subjectCongenital muscular dystrophypt
dc.subjectAnomalias da substĆ¢ncia brancapt
dc.subjectWhite-matter abnormalitiespt
dc.subjectAlteraƧƵes da migraĆ§Ć£o neuronalpt
dc.subjectNeuronal migrations disorderspt
dc.title[Merosinā€positive congenital muscular dystrophy, white matter abnormalities, and bilateral posterior occipital cortical dysplasia]pt
dc.title.alternativeDistrofia muscular congĆ©nita merosina positiva, anormalidades da substĆ¢ncia branca e displasia cortical occipital posterior bilateralpt
dc.typejournal article
dspace.entity.typePublication
oaire.citation.conferencePlaceLisboapt
oaire.citation.endPage192pt
oaire.citation.startPage189pt
oaire.citation.titleActa MĆ©dica Portuguesapt
rcaap.rightsopenAccesspt
rcaap.typearticlept

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