Fatal cervical myelopathy in a child with glutaric aciduria type 1

J Inherit Metab Dis. 2024 Mar;47(2):217-219. doi: 10.1002/jimd.12716. Epub 2024 Feb 7.

Abstract

We report the case of a Syrian female refugee with late diagnosis of glutaric aciduria type 1 characterised by massive axial hypotonia and quadriplegia who only started adequate diet upon arrival in Switzerland at the age of 4 years, after a strenuous migration journey. Soon after arrival, she died from an unexpected severe upper cervical myelopathy, heralded by acute respiratory distress after a viral infection. This was likely due to repeated strains on her hypotonic neck and precipitated by an orthotopic os odontoideum who led to atlanto-axial subluxation. This case reminds us not to omit handling patients with insufficient postural control and hypotonia with great care to avoid progressive cervical myelopathy.

Keywords: Glutaric aciduria type 1; cervical spine injury; neck hypotonia; orthotopic os odontoideum; upper cervical myelopathy.

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Metabolism, Inborn Errors* / complications
  • Amino Acid Metabolism, Inborn Errors* / diagnosis
  • Brain Diseases, Metabolic*
  • Child, Preschool
  • Female
  • Glutaryl-CoA Dehydrogenase* / deficiency
  • Humans
  • Muscle Hypotonia
  • Odontoid Process*
  • Spinal Cord Diseases*

Substances

  • Glutaryl-CoA Dehydrogenase

Supplementary concepts

  • Glutaric Acidemia I