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Life-threatening muscle complications of COL4A1-related disorder

Satomi Okano1, Sorachi Shimada1, Ryosuke Tanaka1

  • 1Department of Pediatrics, Asahikawa Medical University, Japan.

Brain & Development
|September 22, 2019
PubMed

Insights

COL4A1-related disorder, a systemic disease affecting basement membranes, can manifest with muscular issues like rhabdomyolysis and cardiomyopathy. This case highlights muscular involvement in a child with porencephaly and a novel COL4A1 mutation.

Area of Science:

  • Genetics and Molecular Biology
  • Neurology
  • Cardiology

Background:

  • COL4A1 mutations cause systemic disease due to the critical role of alpha 1 type IV collagen in basement membrane stability.
  • Muscular manifestations of COL4A1-related disorder are infrequently documented, despite its systemic nature.

Observation:

  • A 2-year-old boy with porencephaly presented with recurrent rhabdomyolysis triggered by infections.
  • He also developed obstructive hypertrophic cardiomyopathy requiring surgery.
  • Muscle biopsy showed fiber-type disproportion and ultrastructural changes in basement membranes.

Findings:

  • A de novo COL4A1 mutation (c.1853G>A, p.Gly618Glu) was identified.
  • Ultrastructural analysis revealed collagen disarray and reduced basement membrane electron density in capillaries and muscle fibers.
  • Dilated endoplasmic reticulum was observed in capillary endothelial cells.

Implications:

  • This case expands the known clinical spectrum of COL4A1 mutations to include significant muscular pathology.
  • It underscores the importance of considering muscular complications in patients with COL4A1-related disorder.
  • Further research into COL4A1's role in muscle and vascular integrity is warranted.

Keywords:
COL4A1Congenital fiber-type disproportionHypertrophic obstructive cardiomyopathyRhabdomyolysis

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