A diagnosis to consider in paralysis aggravated by excessive carbohydrate intake: Hypokalemic periodic paralysis associated with CACNA1S in a pediatric patient
Arife Derda Yücel Şen1
, Ahmet Baysal1, Özlem Uğur Aydın1, Kürşat Bora Çarman1, Aslı Kavas Tufan2, Oğuz Çilingir3, Coşkun Yarar1
1Department of Pediatric Neurology, Eskişehir Osmangazi University Faculty of Medicine, Eskişehir, Türkiye
2Department of Pediatric Nephrology, Eskişehir Osmangazi University Faculty of Medicine, Eskişehir, Türkiye
3Department of Medical Genetics, Eskişehir Osmangazi University Faculty of Medicine, Eskişehir, Türkiye
Keywords: CACNA1S, channelopathy, hypokalemic periodic paralysis.
Abstract
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.
Cite this article as: Yücel Şen AD, Baysal A, Uğur Aydın Ö, Çarman KB, Kavas Tufan A, Çilingir O, et al. A diagnosis to consider in paralysis aggravated by excessive carbohydrate intake: Hypokalemic periodic paralysis associated with CACNA1S in a pediatric patient. Turk J Neurol 2025;31(4):468-471. doi: 10.55697/tnd.2025.417.