Fatal cervical myelopathy in a child with glutaric aciduria type 1.
J Inherit Metab Dis
; 47(2): 217-219, 2024 03.
Article
in En
| MEDLINE
| ID: mdl-38326670
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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Spinal Cord Diseases
/
Brain Diseases, Metabolic
/
Glutaryl-CoA Dehydrogenase
/
Amino Acid Metabolism, Inborn Errors
/
Odontoid Process
Limits:
Child, preschool
/
Female
/
Humans
Language:
En
Journal:
J Inherit Metab Dis
Year:
2024
Document type:
Article
Affiliation country:
Switzerland