J Pediatr Neurol
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
1  Department of Child Health and Diseases, Department of Pediatric Neurology, Faculty of Medicine, Hacettepe University, Ankara, Turkey
,
Busranur Cavdarli
2  Department of Medical Genetics, Ankara Numune Training and Research Hospital, University of Health Sciences, Ankara, Turkey
,
Bahadir Konuskan
1  Department of Child Health and Diseases, Department of Pediatric Neurology, Faculty of Medicine, Hacettepe University, Ankara, Turkey
,
Haluk Topaloglu
1  Department of Child Health and Diseases, Department of Pediatric Neurology, Faculty of Medicine, Hacettepe University, Ankara, Turkey
› Author Affiliations
Further Information

Publication History

17 April 2019

21 June 2019

Publication Date:
18 October 2019 (online)

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.