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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

Publication History

Received: 27 July 2021

Accepted: 19 August 2021

Article published online:
30 January 2023

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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).