Novel Missense ALDH3A2 Mutation in a Patient with Sjögren-Larsson Syndrome
Journal of Pediatric Neurology, cilt.18, sa.3, ss.166-168, 2019 (Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 18 Sayı: 3
- Basım Tarihi: 2019
- Doi Numarası: 10.1055/s-0039-1698425
- Dergi Adı: Journal of Pediatric Neurology
- Derginin Tarandığı İndeksler: Scopus
- Sayfa Sayıları: ss.166-168
- Anahtar Kelimeler: congenital ichthyosis, mental retardation, enzyme deficient
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
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.983C(p.Met328Thr) mutation in the ALDH3A2 gene; both parents were heterozygous for the same mutation.