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Fatal cervical myelopathy in a child with glutaric aciduria type 1

Eline Chauvet1, Diana Ribeiro2, Ilse Kern3

  • 1Pediatric Neurology Unit, Pediatric Subspecialties Service, Children's Hospital, Geneva University Hospitals, Geneva, Switzerland.

Journal of Inherited Metabolic Disease
|February 7, 2024
PubMed

Insights

Glutaric aciduria type 1 (GA1) in a refugee child led to severe hypotonia and quadriplegia. Late diagnosis and a strenuous journey complicated her care, resulting in fatal cervical myelopathy.

Area of Science:

  • Neurology
  • Metabolic Disorders
  • Pediatrics

Background:

  • Glutaric aciduria type 1 (GA1) is a rare inherited metabolic disorder.
  • It typically presents in infancy with neurological complications.

Observation:

  • A Syrian female refugee with GA1 received a late diagnosis at age 4.
  • She presented with severe axial hypotonia and quadriplegia.
  • Her condition worsened during a migration journey, with delayed initiation of adequate diet.

Findings:

  • The patient experienced acute respiratory distress after a viral infection.
  • This was followed by severe upper cervical myelopathy.
  • An orthotopic os odontoideum leading to atlanto-axial subluxation was identified as a likely precipitating factor.

Implications:

  • This case highlights the critical need for prompt diagnosis and management of GA1.
  • Careful handling of patients with hypotonia and poor postural control is essential to prevent cervical myelopathy.
  • Delayed diagnosis and environmental stressors can exacerbate neurological conditions in vulnerable populations.

Keywords:
Glutaric aciduria type 1cervical spine injuryneck hypotoniaorthotopic os odontoideumupper cervical myelopathy

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