Case report: SCN4A p.R1135H gene variant in combination with thyrotoxicosis causing hypokalemic periodic paralysis

We present a case of a 29-year-old male with hypokalemic periodic paralysis. The patient began to experience recurrent weakness of the extremities at the age of 26, which was effectively treated with potassium supplementation. He had recently developed dry mouth, palpitations, weight loss, and even dyspnea, with a serum potassium level as low as 1.59 mmol/L. The results of auxiliary examinations showed Graves' disease, and genetic testing indicated a missense variant, NM_000334.4 (SCN4A):c.3404G>A (p.R1135H). He did not experience periodic paralysis during follow-up after lifestyle guidance and treatment of thyrotoxicosis with radioactive iodine. It is a rare case of SCN4A p.R1135H gene variant combined with hyperthyroidism resulting in HPP with respiratory muscle paralysis to raise awareness of the disease and avoid misdiagnosis and missed diagnosis.
Source: Frontiers in Neurology - Category: Neurology Source Type: research