Merosin-deficient congenital muscular dystrophy associated with abnormal cerebral cortical gyration: an autopsy study.
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.
Taratuto
A L
AL
National Pediatric Hospital, Buenos Aires, Argentina. ataratuto@roche.com.ar
Lubieniecki
F
F
Díaz
D
D
Schultz
M
M
Ruggieri
V
V
Saccoliti
M
M
Dubrovsky
A
A
D001344:Autopsy; D001706:Biopsy; D002540:Cerebral Cortex / Q000002:abnormalities* / Q000000981:diagnostic imaging; D006801:Humans; D007223:Infant; D007797:Laminin / Q000172:deficiency*; D008297:Male; D009136:Muscular Dystrophies / Q000151:congenital / Q000473:pathology / Q000503:physiopathology*; D014057:Tomography, X-Ray Computed
D007797:Laminin