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Case Reports
. 2023 Dec;191(12):2898-2902.
doi: 10.1002/ajmg.a.63388. Epub 2023 Sep 1.

Atlantoaxial instability associated with ALDH18A1 mutation

Alexandra T Lucas  1 , Angela E Lin  2 , Andrew Cohen  3 , William Muñoz  4 , Kristopher T Kahle  4 , John H Shin  4 , Karen Buch  5 , Inderneel Sahai  2 , Ryan W Carroll  1
Affiliations
Case Reports

Atlantoaxial instability associated with ALDH18A1 mutation

Alexandra T Lucas et al. Am J Med Genet A. 2023 Dec.

Abstract

We report a 10-year-old boy with a de novo pathogenic variant in ALDH18A1, a rare form of metabolic cutis laxa, which was complicated by atlantoaxial instability and spinal cord compression following a fall from standing height. The patient required emergent cervical spine fusion and decompression followed by a 2-month hospitalization and rehabilitation. In addition to the core clinical features of joint and skin laxity, hypotonia, and developmental delays, we expand the connective tissue phenotype by adding a new potential feature of cervical spine instability. Patients with pathogenic variants in ALDH18A1 may warrant cervical spine screening to minimize possible morbidity. Neurosurgeons, geneticists, primary care providers, and families should be aware of the increased risk of severe cervical injury from minor trauma.

Keywords: cervical instability; cervical spine screening; metabolic cutis laxa.

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References

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