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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

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

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