A girl presenting with intractable seizure and decreased visual acuity

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

📌 3 Key Takeaways

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Objective & Hypothesis: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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Key Findings & Data: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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Conclusion & Impact: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

🔬Design:Research Article

📍Scope:Comprehensive Sample

⚙️Variables: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

Keywords

Neuronal ceroid lipofuscinosis seizure visual failure

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Cite This Article

KOCAOĞLU, Ç., AKIN, F., SERT, A., ÇAKSEN, H., ÖNER, V., KILIÇASLAN, 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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