Atlantoaxial instability associated with ALDH18A1 mutation

Area of Science:

• Genetics
• Biochemistry
• Pediatrics

Background:

• ALDH18A1 deficiency is a rare metabolic disorder characterized by cutis laxa, hypotonia, and developmental delays.
• The genetic basis involves pathogenic variants in the ALDH18A1 gene, affecting cellular metabolism.

Observation:

• A 10-year-old boy with a de novo ALDH18A1 variant presented with severe atlantoaxial instability and spinal cord compression after a minor fall.
• The patient required emergent cervical spine fusion and decompression, followed by extensive hospitalization and rehabilitation.

Findings:

• This case expands the known connective tissue phenotype of ALDH18A1 deficiency to include cervical spine instability.
• The findings suggest a potential predisposition to severe cervical injury from minor trauma in individuals with ALDH18A1 variants.

Implications:

• Cervical spine screening may be warranted for patients with pathogenic ALDH18A1 variants to identify instability early.
• Healthcare providers, including neurosurgeons and geneticists, should be aware of this increased risk to prevent severe morbidity from minor trauma.