Late infantile neuronal ceroid lipofuscinosis: A case report Geç infantil nöronal seroid lipofusinoz: Bir olgu sunumu

YİŞ U., HIZ A. S., Özoǧul C., Dirik E.

Turk Pediatri Arsivi, cilt.45, sa.2, ss.155-157, 2010 (Scopus, TRDizin) identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 45 Sayı: 2
  • Basım Tarihi: 2010
  • Doi Numarası: 10.4274/turkpedars.45.155
  • Dergi Adı: Turk Pediatri Arsivi
  • Derginin Tarandığı İndeksler: Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.155-157
  • Anahtar Kelimeler: CLN2 gene, Electron microscopy, Neuronal ceroid lipofuscinosis
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

Neuronal ceroid lipofuscinoses are the most common neurodegenerative childhood-onset disorders characterized by autosomal recessive inheritance, epileptic seizures, progressive psychomotor deterioration, visual failure, and premature death. At least seven subtypes of childhood-onset neuronal ceroid lipofuscinoses have been identified of which the late-infantile-onset forms are genetically the most heterogeneous. We present a five-year-old girl with late infantile neuronal ceroid lipofuscinosis who presented with progressive psychomotor retardation, ataxia and epilepsia. Palmitoyl protein thioesterase activity was very low and a homozygous mutation was identified in CLN2 gene.