Year: 2010 Month: 6 Volume: 45 Issue 2
When the Turkish word exists
Year: 2010
Month: 6
Valume: 45
Issue 2
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Accepted
Late infantile neuronal ceroid lipofuscinosis: A case reports
Doi: 10.4274/tpa.45.155
Uluç Yiş;
Gaziantep Çocuk Hastanesi, Çocuk Nöroloji Bölümü, Gaziantep, Türkiye
Semra Hız Kurul;
Dokuz Eylül Üniversitesi Tıp Fakültesi, Çocuk Sağlığı ve Hastalıkları Anabilim Dalı, Çocuk Nöroloji Bilim Dalı, İzmir, Türkiye
Candan Özoğul;
Dokuz Eylül Üniversitesi Tıp Fakültesi, Histoloji ve Embriyoloji Anabilim Dalı, İzmir, Türkiye
Eray Dirik;
Dokuz Eylül Üniversitesi Tıp Fakültesi, Çocuk Sağlığı ve Hastalıkları Anabilim Dalı, Çocuk Nörolojisi Bilim Dalı, İzmir, Türkiye
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Uluç Yiş;
Gaziantep Çocuk Hastanesi, Çocuk Nöroloji Bölümü, Gaziantep, Türkiye
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

Full Text

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

 


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