Year: 2010 Month: 6 Volume: 45 Issue 2
When the Turkish word exists
Year: 2010
Month: 6
Valume: 45
Issue 2
Viewed 384 times
Received
Accepted
Late infantile neuronal ceroid lipofuscinosis: A case reports
Doi: 10.4274/tpa.45.155
Uluç Yiş, Semra Hız Kurul, Candan Özoğul, Eray Dirik
Abstract

Summary
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)
Key words: CLN2 gene, electron microscopy, neuronal ceroid lipofuscinosis

2014 © Galenos Yayınevi | All Rights Reserved. Privacy Statement | Access