POLG Gene Mutation and Alpers - Huttenlocher Syndrome: A Case Report and Review of Literature
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
How to Cite?: Dr. Varnit Shanker, Dr. Praveen Kumar, "POLG Gene Mutation and Alpers - Huttenlocher Syndrome: A Case Report and Review of Literature", Volume 14 Issue 1, January 2025, International Journal of Science and Research (IJSR), Pages: 128-131, https://www.ijsr.net/getabstract.php?paperid=SR241224123447, DOI: https://dx.doi.org/10.21275/SR241224123447