A girl presenting with intractable seizure and decreased visual acuity

Amaç & Hipotez: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.

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Temel Bulgular & Veri:In this article, we present a 5-year- old girl with late infantile neuronal ceroid lipofuscinosis who presented with seizures and decreased visual acuity.

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Sonuç & Katkı:Key words: Neuronal ceroid lipofuscinosis, seizure, visual failure

🔬Tür:Araştırma Makalesi

📍Kapsam:Genişletilmiş Akademik Örneklem

⚙️Değişkenler:Neuronal ceroid lipofuscinosis · seizure · visual failure

Abstract

Abstract. 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-year- old 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. Key words: Neuronal ceroid lipofuscinosis, seizure, visual failure

Anahtar kelimeler

Neuronal ceroid lipofuscinosis seizure visual failure

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Bu Makaleye Atıf Yap

Kocaoğlu, Ç., Akın, F., Sert, A., Çaksen, H., Öner, V., Kılıçaslan, C., Arslan, Ş. (2014). A girl presenting with intractable seizure and decreased visual acuity. Eastern Journal of Medicine, Cilt: 17 Sayı: 3, 138–141. https://ajindex.com/articles/984937

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Kaynakça (10)

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