ALDH18A1-related cutis laxa syndrome with cyclic vomiting.

Brain & Development
Fumihito NozakiTatsuya Fujii

Abstract

Cutis laxa (CL) syndromes are connective tissue disorders characterized by redundant, sagging, inelastic and wrinkled skin, with organ involvement. Here, we describe a patient with ALDH18A1-related CL who developed cyclic vomiting. The patient was a 12-year-old boy who presented with poor postnatal growth, hypotonia, short stature, joint hyperlaxity, microcephaly, strabismus, bilateral cataracts, facial dysmorphism and severe mental retardation. Bone radiographs showed osteopenia and osteoporosis, and magnetic resonance angiography showed marked kinking and tortuosity of the brain vessels. These findings were clinically compatible with ALDH18A1-related CL. Molecular analysis revealed a de novo heterozygous mutation (p.R138Q) in ALDH18A1. No mutations were found in PYCR1 gene. The patient developed cyclic vomiting with decreased blood levels of ornithine, citrulline, arginine and proline without hyperammonemia and other hypoaminoacidemias were also found. ALDH18A1 encodes Δ(1)-pyrroline-5-carboxylate synthase, which is related to the biosynthesis of ornithine, citrulline, arginine, and proline. Cyclic vomiting has never been reported in other ALDH18A1-related CL patients. This is the first case report of ALDH18A1-related CL with...Continue Reading

References

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Citations

May 1, 2016·Annals of Neurology·Maha S ZakiJoseph G Gleeson
Feb 24, 2017·Journal of Human Genetics·Priya T BholaDavid A Dyment
Feb 6, 2020·Journal of Inherited Metabolic Disease·Clara Marco-MarínVicente Rubio
Jun 20, 2018·Journal of Human Genetics·Kishin KohUNKNOWN Japan Spastic Paraplegia Research Consortium
Apr 4, 2019·Molecular Medicine Reports·Meirong WeiBinbin Wang
Nov 24, 2020·Frontiers in Neurology·Umberto RaucciPasquale Parisi
Feb 16, 2021·The Journal of Pathology·Charlotte L AlstonRobert W Taylor

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