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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”

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 disease11. 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 Mar 1;206(3):811-6. https://doi.org/10.1148/radiology.206.3.9494506
https://doi.org/10.1148/radiology.206.3....
. Interestingly, MRI also depicted malformations of cortical development - symmetric bilateral parieto-occipital bumpy or pebbly cortical surface (cobblestone malformation)22. 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 Sep 1;79(9):998-1010. https://doi.org/10.1093/jnen/nlaa062
https://doi.org/10.1093/jnen/nlaa062...
(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

  • 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 Mar 1;206(3):811-6. https://doi.org/10.1148/radiology.206.3.9494506
    » 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 Sep 1;79(9):998-1010. https://doi.org/10.1093/jnen/nlaa062
    » https://doi.org/10.1093/jnen/nlaa062

Publication Dates

  • Publication in this collection
    17 Dec 2021
  • Date of issue
    Mar 2022

History

  • Received
    27 July 2021
  • Reviewed
    11 Aug 2021
  • Accepted
    19 Aug 2021
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