Novel Missense ALDH3A2 Mutation in a Patient with Sjögren–Larsson Syndrome

Anar Tagiyev; Busranur Cavdarli; Bahadir Konuskan; Haluk Topaloglu

doi:10.1055/s-0039-1698425

Journal of Pediatric Neurology, Table of Contents

Journal of Pediatric Neurology 2020; 18(03): 166-168
DOI: 10.1055/s-0039-1698425

Case Report

Georg Thieme Verlag KG Stuttgart · New York

Novel Missense ALDH3A2 Mutation in a Patient with Sjögren–Larsson Syndrome

Anar Tagiyev

¹Department of Child Health and Diseases, Department of Pediatric Neurology, Faculty of Medicine, Hacettepe University, Ankara, Turkey

,

Busranur Cavdarli

²Department of Medical Genetics, Ankara Numune Training and Research Hospital, University of Health Sciences, Ankara, Turkey

,

Bahadir Konuskan

¹Department of Child Health and Diseases, Department of Pediatric Neurology, Faculty of Medicine, Hacettepe University, Ankara, Turkey

,

Haluk Topaloglu

¹Department of Child Health and Diseases, Department of Pediatric Neurology, Faculty of Medicine, Hacettepe University, Ankara, Turkey

› Author Affiliations

Abstract

An 11-year-old boy presented with toe-walking, hyperkeratosis of the skin, dysarthric speech, and mild mental retardation. On neurological examination, mild fasciculation in the eyelids and bilateral end-point nystagmus were noted. Speech quality was dysarthric, muscle tone, strength, and deep tendon reflexes increased tone, reflexes, and mild weakness (4/5), and bilateral Babinski sign was noted in the lower extremities. Cranial magnetic resonance imaging revealed a T2-signal increase in the right temporal lobe. Sjögren–Larsson syndrome based on clinical and neurological findings was confirmed with the identification of a homozygous c.983T˃C(p.Met328Thr) mutation in the ALDH3A2 gene; both parents were heterozygous for the same mutation.

Keywords

congenital ichthyosis - mental retardation - enzyme deficient

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References

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