Arife Derda Yücel Şen, Ahmet Baysal, Özlem Uğur Aydın, Kürşat Bora Çarman, Aslı Kavas Tufan, Oğuz Çilingir, Coşkun Yarar
Turkish Journal of Neurology - 2025;31(4):468-471
A nine-year-old female was admitted to the pediatric emergency room with weakness in all four extremities, preventing her from standing or walking. The patient reported that symptoms began after consuming a high amount of carbohydrates. Laboratory analyses indicated a potassium concentration of 2.4 mmol/L. After potassium replacement, the patient's symptoms returned to baseline levels. A genetic study revealed a heterozygous mutation in the CACNA1S gene. Hypokalemic periodic paralysis is an uncommon channelopathy marked by intermittent muscle weakness, frequently induced by elevated carbohydrate consumption. Although environmental factors such as carbohydrate loading can exacerbate symptoms, genetic analysis plays a crucial role in confirming the diagnosis. This instance underscored the necessity of identifying food triggers in individuals with CACNA1S mutations and incorporating hypokalemic periodic paralysis into the differential diagnosis of acute muscle weakness in young patients.
