Merosin-deficient congenital muscular dystrophy associated with abnormal cerebral cortical gyration: an autopsy study.

Taratuto, A L; Lubieniecki, F; Díaz, D; Schultz, M; Ruggieri, V; Saccoliti, M; Dubrovsky, A

Taratuto, A L; Lubieniecki, F; Díaz, D; Schultz, M; Ruggieri, V; Saccoliti, M; Dubrovsky, A.

Afiliación

Taratuto AL; National Pediatric Hospital, Buenos Aires, Argentina. ataratuto@roche.com.ar

Neuromuscul Disord ; 9(2): 86-94, 1999 Mar.

Article en En | MEDLINE | ID: mdl-10220863

RESUMEN

We report clinical, biopsy and autopsy findings in a merosin-deficient congenital muscular dystrophy (CMD) infant with abnormal cortical gyration. Brain showed polymicrogyria and occipital agyria with marginal neuroglial heterotopia and inferior vermis hypoplasia. There was a normal pattern of myelination consistent with early age. Laminin alpha 2 chain was also absent in myocardium, brain pial-glial membrane, brain and skin blood vessels as well as intramuscular and skin nerves. Occasional basal lamina gaps were found in muscle fibres but not in brain-blood vessels. This is the first autopsy study in a merosin-deficient CMD case with abnormal cortical gyration.

Asunto(s)

Corteza Cerebral/anomalías; Laminina/deficiencia; Distrofias Musculares/fisiopatología; Autopsia; Biopsia; Corteza Cerebral/diagnóstico por imagen; Humanos; Lactante; Masculino; Distrofias Musculares/congénito; Distrofias Musculares/patología; Tomografía Computarizada por Rayos X

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Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Corteza Cerebral / Laminina / Distrofias Musculares Tipo de estudio: Risk_factors_studies Límite: Humans / Infant / Male Idioma: En Revista: Neuromuscul Disord Asunto de la revista: NEUROLOGIA Año: 1999 Tipo del documento: Article País de afiliación: Argentina Pais de publicación: Reino Unido

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