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Case Studies | Neurology | India | Volume 14 Issue 1, January 2025 | Rating: 4.8 / 10
POLG Gene Mutation and Alpers - Huttenlocher Syndrome: A Case Report and Review of Literature
Dr. Varnit Shanker, Dr. Praveen Kumar
Abstract: Alpers - Huttenlocher syndrome (AHS) is an autosomal recessive inheritance condition associated with POLG and is characterized by the classic triad of epilepsy refractory to treatment. In this study, a clinical case of a 10 - month - old female patient with a provisional diagnosis refractory epilepsy is reported. Subsequently, the paper describes the clinical features, natural history of Alpers - Huttenlocher syndrome, and treatment of PLOG - related disorders, focusing particularly on the neurological manifestations of these conditions.
Keywords: PolG gene mutation, Neuroregression, Super - refractory seizures
Edition: Volume 14 Issue 1, January 2025,
Pages: 128 - 131