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

Luiz Fernando Monte Borella; Fernanda Veloso Pereira; Paula Maria Preto Mimura; Juliana Ávila Duarte; Luciano de Lima Villarinho; Thiago Rezende; Marcondes Cavalcante de França Junior; Fabiano Reis

doi:10.1590/0004-282X-ANP-2021-0292

Arquivos de Neuro-Psiquiatria, Table of Contents

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”

Authors

Luiz Fernando Monte Borella

¹Universidade Estadual de Campinas, Faculdade de Ciências Médicas, Departamento de Radiologia, Campinas SP, Brazil.
Fernanda Veloso Pereira

¹Universidade Estadual de Campinas, Faculdade de Ciências Médicas, Departamento de Radiologia, Campinas SP, Brazil.
Paula Maria Preto Mimura

²Pontifícia Universidade Católica de São Paulo, Faculdade de Ciências Médicas e da Saúde, Departamento de Neuropediatria, Sorocaba SP, Brazil.
Juliana Ávila Duarte

³Universidade Federal do Rio Grande do Sul, Faculdade de Ciências Médicas, Departamento de Radiologia, Porto Alegre RS, Brazil.
Luciano de Lima Villarinho

⁴The University of Mississippi Medical Center, School of Medicine, Department of Radiology, Jackson, MS, USA.
Thiago Rezende

⁵Universidade Estadual de Campinas, Faculdade de Ciências Médicas, Departamento de Neurologia, Campinas SP, Brazil.
Marcondes Cavalcante de França Junior

⁵Universidade Estadual de Campinas, Faculdade de Ciências Médicas, Departamento de Neurologia, Campinas SP, Brazil.
Fabiano Reis

¹Universidade Estadual de Campinas, Faculdade de Ciências Médicas, Departamento de Radiologia, Campinas SP, Brazil.

Abstract

Full Text

PDF Download

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.

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).

References

References
1 Lamer S, Carlier RY, Pinard JM, Mompoint D, Bagard C, Burdairon E. et al. Congenital muscular dystrophy: use of brain MR imaging findings to predict merosin deficiency. Radiology 1998; 206 (03) 811-816 https://doi.org/10.1148/radiology.206.3.9494506
2 Jayakody H, Zarei S, Nguyen H, Dalton J, Chen K, Hudgins L. et al. Cobblestone Malformation in LAMA2 Congenital Muscular Dystrophy (MDC1A). J Neuropathol Exp Neurol 2020; 79 (09) 998-1010 https://doi.org/10.1093/jnen/nlaa062

Figures

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).