Objective:

Hypokalemic periodic paralysis (HPP) is a rare genetic disorder characterized by episodic muscle weakness associated with low potassium levels. This condition is often linked to mutations in genes encoding ion channels, such as SCN4A, which affect sodium channel function in muscle cells. Early recognition and genetic testing are essential for proper diagnosis and management, particularly in young patients. This report discusses a case of a 14-year-old male with recurring episodes of muscle weakness, exploring the diagnostic journey and the importance of genetic testing.

Background:

A 14-year-old healthy male presented with sudden bilateral lower extremity weakness, more pronounced on the right side, along with associated pain. Physical examination revealed diffuse weakness, making him unable to walk without support. Initial laboratory results showed hypokalemia (K+ 2.8 mmol/L), with normal creatine kinase (CK) and thyroid-stimulating hormone (TSH) levels. A spinal MRI was normal. His symptoms completely resolved within 24 hours. Over the next six months, he experienced two additional episodes of similar symptoms. Electromyography (EMG) during these episodes demonstrated findings consistent with muscle fatigue during prolonged exercise. Whole genome analysis identified a pathogenic variant in the SCN4A gene, confirming the diagnosis of hypokalemic periodic paralysis.

Design/Methods:

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Results:

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Conclusions:

This case highlights the significance of genetic testing in diagnosing hypokalemic periodic paralysis, particularly in young patients with episodic muscle weakness. The identification of a pathogenic SCN4A variant underscores the role of sodium channel dysfunction in the disease. Early diagnosis through a systematic approach involving clinical evaluation, laboratory findings, and genetic analysis is critical in optimizing management and preventing further episodes of weakness in affected individuals.