Late infantile neuronal ceroid lipofuscinosis: A case report Geç infantil nöronal seroid lipofusinoz: Bir olgu sunumu
Turk Pediatri Arsivi, cilt.45, sa.2, ss.155-157, 2010 (Scopus, TRDizin)
- 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.