Novel Missense ALDH3A2 Mutation in a Patient with Sjogren-Larsson Syndrome


Tagiyev A., Cavdarli B., KONUŞKAN B. , Topaloglu H.

JOURNAL OF PEDIATRIC NEUROLOGY, cilt.18, ss.166-168, 2020 (ESCI İndekslerine Giren Dergi) identifier identifier

  • Cilt numarası: 18 Konu: 3
  • Basım Tarihi: 2020
  • Doi Numarası: 10.1055/s-0039-1698425
  • Dergi Adı: JOURNAL OF PEDIATRIC NEUROLOGY
  • Sayfa Sayıları: ss.166-168

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. Sjogren-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.