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Child Neurology: Severe GMPPB-Related Congenital Muscular Dystrophy With Rapidly Progressive Encephalopathy Leading

Joseph Dubé1, Susan Blaser2, Anne-Marie Guerguerian3

  • 1Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Ontario, Canada.

Neurology
|January 15, 2025
PubMed

Insights

Pathogenic variants in GMPPB gene cause congenital muscular dystrophy. This case highlights infantile death in a GMPPB-related disorder, possibly worsened by vigabatrin toxicity.

Area of Science:

  • Genetics
  • Neurology
  • Pathology

Background:

  • Pathogenic variants in the GMPPB gene lead to congenital muscular dystrophy due to alpha-dystroglycan hypoglycosylation.
  • GMPPB-related disorders present with a spectrum including muscular dystrophy, rhabdomyolysis, and neurological abnormalities.

Purpose of the Study:

  • To report a fatal case of congenital muscular dystrophy associated with GMPPB variants in an infant.
  • To investigate the clinical presentation, neuroimaging, and postmortem findings in a severe case of GMPPB-related disorder.

Main Methods:

  • Clinical case report of a 9-month-old male infant with congenital muscular dystrophy and infantile spasms.
  • Genetic analysis identifying compound heterozygous pathogenic variants in GMPPB.
  • Brain MRI and postmortem neuropathology examination.

Main Results:

  • The infant presented with status epilepticus, hemodynamic instability, and multiorgan failure, leading to death.
  • Brain MRI revealed diffusion restriction and cerebral volume loss, with possible vigabatrin toxicity.
  • Postmortem neuropathology confirmed dystroglycanopathy with muscle dystroglycan staining loss.

Conclusions:

  • This case demonstrates a severe infantile presentation of GMPPB-related disorder with early mortality.
  • Potential exacerbation of outcomes by vigabatrin toxicity is a concern in patients with GMPPB mutations.

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