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Browsing by Author "Sert, A."

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    A Girl Presenting With Intractable Seizure and Decreased Visual Acuity
    (2012) Kocaoǧlu, C.; Akin, F.; Sert, A.; Çaksen, H.; Öner, V.; Kiliçaslan, C.; Arslan, S.
    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 eleven subtypes of childhood-onset neuronal ceroid lipofuscinoses have been identified. The most common types are the infantile and classic juvenile forms. In this article, we present a 5-yearold girl with late infantile neuronal ceroid lipofuscinosis who presented with seizures and decreased visual acuity. She was healthy and her developmental milestones were normal until 3 years of age. At the age of 3-year-old, her intractable seizures started and decreased visual acuity was recognized. Based on the clinical findings and enzymatic test results, she was diagnosed as late-infantile ceroid lipofuscinosis.