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CC BY-NC-ND 4.0 · Arq Neuropsiquiatr 2022; 80(03): 333-334
DOI: 10.1590/0004-282X-ANP-2021-0292
Images in Neurology

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

Ampliação do espectro da distrofia muscular congênita associada ao LAMA 2 (MDC1A): malformação do tipo “cobblestone”
Luiz Fernando Monte Borella 
1   Universidade Estadual de Campinas, Faculdade de Ciências Médicas, Departamento de Radiologia, Campinas SP, Brazil.
,
Fernanda Veloso Pereira 
1   Universidade Estadual de Campinas, Faculdade de Ciências Médicas, Departamento de Radiologia, Campinas SP, Brazil.
,
Paula Maria Preto Mimura 
2   Pontifícia Universidade Católica de São Paulo, Faculdade de Ciências Médicas e da Saúde, Departamento de Neuropediatria, Sorocaba SP, Brazil.
,
Juliana Ávila Duarte 
3   Universidade Federal do Rio Grande do Sul, Faculdade de Ciências Médicas, Departamento de Radiologia, Porto Alegre RS, Brazil.
,
Luciano de Lima Villarinho 
4   The University of Mississippi Medical Center, School of Medicine, Department of Radiology, Jackson, MS, USA.
,
Thiago Rezende 
5   Universidade Estadual de Campinas, Faculdade de Ciências Médicas, Departamento de Neurologia, Campinas SP, Brazil.
,
Marcondes Cavalcante de França  Junior
5   Universidade Estadual de Campinas, Faculdade de Ciências Médicas, Departamento de Neurologia, Campinas SP, Brazil.
,
Fabiano Reis 
1   Universidade Estadual de Campinas, Faculdade de Ciências Médicas, Departamento de Radiologia, Campinas SP, Brazil.
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A 4-year-old boy withLAMA2-related congenital muscular dystrophy had two pathogenic variants (NM_000426): c.1255delA 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[1]. Interestingly, MRI also depicted malformations of cortical development - symmetric bilateral parieto-occipital bumpy or pebbly cortical surface (cobblestone malformation)[2] ([Figure 1]).

This report expandsLAMA2-related radiological phenotype to include not only WM abnormalities, but also predominantly posterior cerebral cortex changes.

Zoom Image
Figure 1 (A) Coronal T2-weighted image (T2WI) showing bilateral and symmetric type II lissencephaly or “cobblestone” lissencephaly (arrows). (B) Axial T2-weighted image (T2WI) showing bilateral and symmetric type II lissencephaly or “cobblestone” lissencephaly (arrows). (C) Axial T2-weighted image (T2WI) with a closer view of the symmetric type II lissencephaly or “cobblestone” lissencephaly (arrows), in contrast with normal cortical development. (D) Coronal T2-weighted image (T2WI) showing signal abnormalities in the periventricular white matter (arrows).

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Conflict of interest:

There is no conflict of interest to declare.

Authors’ contributions:

LFMB: conceptualization (supporting), data curation (supporting), investigation (supporting), writing-original draft (lead); FVP, PMPM, JAD, LLV, TR, MCFJ: conceptualization (equal), visualization (equal), writing-review & editing (equal); FR: conceptualization (lead), formal analysis (lead),project administration (lead), visualization (lead), writing-review & editing (lead).



Address for correspondence

Luiz Fernando Monte Borella

Publikationsverlauf

Eingereicht: 27. Juli 2021

Angenommen: 19. August 2021

Artikel online veröffentlicht:
30. Januar 2023

© 2021. Academia Brasileira de Neurologia. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commecial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

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Zoom Image
Figure 1 (A) Coronal T2-weighted image (T2WI) showing bilateral and symmetric type II lissencephaly or “cobblestone” lissencephaly (arrows). (B) Axial T2-weighted image (T2WI) showing bilateral and symmetric type II lissencephaly or “cobblestone” lissencephaly (arrows). (C) Axial T2-weighted image (T2WI) with a closer view of the symmetric type II lissencephaly or “cobblestone” lissencephaly (arrows), in contrast with normal cortical development. (D) Coronal T2-weighted image (T2WI) showing signal abnormalities in the periventricular white matter (arrows).