Late infantile neuronal ceroid lipofuscinosis: A case reports
TURK PEDIATRI ARSIVI-TURKISH ARCHIVES OF PEDIATRICS, cilt.45, sa.2, ss.155-157, 2010 (SCI-Expanded, Scopus, TRDizin)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 45 Sayı: 2
- Basım Tarihi: 2010
- Doi Numarası: 10.4274/tpa.45.155
- Dergi Adı: TURK PEDIATRI ARSIVI-TURKISH ARCHIVES OF PEDIATRICS
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), 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. (Turk Arch Ped 2010; 45: 155-7)