Widening the spectrum of LAMA 2 congenital muscular dystrophy (MDC1A): cobblestone malformation

A 4-year-old boy with LAMA2-related congenital muscular dystrophy had two pathogenic variants (NM_000426):c.1255de1A and c.2461A>C. Magnetic resonance imaging (MRI) of the brain showed signal abnormalities in supratentorial white matter (WM), which are conspicuous findings in this disease. Intere...

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Bibliographic Details
Published in:Arquivos de neuro-psiquiatria 2022-03, Vol.80 (3), p.333-334
Main Authors: Borella, Luiz Fernando Monte, Pereira, Fernanda Veloso, Mimura, Paula Maria Preto, Duarte, Juliana Ávila, Villarinho, Luciano de Lima, Rezende, Thiago, França, Marcondes Cavalcante de, Reis, Fabiano
Format: Article
Language:English
Subjects:
Cerebral cortex
Humans
Images in Neurology
Magnetic resonance imaging
Muscle, Skeletal
Muscular Dystrophies - genetics
Muscular dystrophy
Neuroimaging
Phenotypes
Substantia alba
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Summary:A 4-year-old boy with LAMA2-related congenital muscular dystrophy had two pathogenic variants (NM_000426):c.1255de1A and c.2461A>C. Magnetic resonance imaging (MRI) of the brain showed signal abnormalities in supratentorial white matter (WM), which are conspicuous findings in this disease. Interestingly, MRI also depicted malformations of cortical development - symmetric bilateral parieto-occipital bumpy or pebbly cortical surface (cobblestone malformation). This report expands LAMA2-related radiological phenotype to include not only WM abnormalities, but also predominantly posterior cerebral cortex changes.
ISSN:0004-282X
1678-4227
DOI:10.1590/0004-282X-ANP-2021-0292