P163 – 2479: Intra familial phenotypical variations in hypokalemic periodic paralysis

Abstract

Objective To describe cases of intra familial phenotypical variations in hypokalaemia periodic paralysis. Methods Retrospective case note review. Results We report a family of two siblings diagnosed with Hypokalaemia Periodic Paralysis who presented at different ages with different symptoms. Case1: A 16 years old boy presented with episodic weakness developed in the early hours of the morning with difficulty to get out of bed lasting up to 2 hours which was associated with reduce physical exercise, consumption of large amount of carbohydrate and missing regular meal time. His ECG was normal and CK was 363. His EMG showed features of myopathy features. His potassium level were Conclusion Familial hypokalemic periodic paralysis is an autosomal dominant genetic muscle disease characterized by periodic attacks of muscle weakness associated with a decrease in serum potassium. In our cases, the clinical manifestation and the severity of the condition was variable even within the family members with similar genotype. It is very important to check serum potassium level in a child presenting with muscle stiffness/weakness symptoms as it can be treated quickly with potassium supplement. Daily attention to restriction of vigorous exercises, reserved intake of carbohydrate and avoidance of exposure to coldness is helpful.