%0 Case Reports
%T Fatal cervical myelopathy in a child with glutaric aciduria type 1.
%A Chauvet E
%A Ribeiro D
%A Kern I
%A Fluss J
%J J Inherit Metab Dis
%V 47
%N 2
%D 2024 03 7
%M 38326670
%F 4.75
%R 10.1002/jimd.12716
%X 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.