{Reference Type}: Case Reports
{Title}: Fatal cervical myelopathy in a child with glutaric aciduria type 1.
{Author}: Chauvet E;Ribeiro D;Kern I;Fluss J;
{Journal}: J Inherit Metab Dis
{Volume}: 47
{Issue}: 2
{Year}: 2024 03 7
{Factor}: 4.75
{DOI}: 10.1002/jimd.12716
{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.