Gitelman syndrome presenting with lower limb paralysis: a case report

Gitelman syndrome is a rare autosomal recessive disorder that affects the distal convoluted tubules of the kidneys. It often manifests through various symptoms, including muscle weakness, paresthesia, fatigue, or paralysis. Owing to the scarcity of case reports regarding Gitelman syndrome in the Middle East and North Africa region, it is imperative to spread awareness about this syndrome for prompt diagnosis. Consequently, this could drastically decrease the rate of complications and help with its management and prognosis. This case report addresses the lack of awareness surrounding the syndrome. In addition to its unfamiliarity, the patient presented in this case exhibited hypokalemic periodic paralysis, which is a rare presentation of Gitelman syndrome. A 17-year-old Egyptian male patient presented to the emergency department complaining of progressive lower limb weakness during the previous week. The patient had recurrent, brief episodes of lower limb paralysis for more than 2 years. Clinical examination revealed severe lower limb weakness with a power of 0/5 bilaterally. There was no evidence of upper limb or respiratory muscle involvement. Further investigations revealed severe hypokalemia, hypomagnesemia, metabolic alkalosis, hypocalciuria, and hyperreninemia. A positive family history, along with the aforementioned laboratory results, supported the diagnosis of Gitelman syndrome. The patient was then transferred to the high-dependency care unit, where aggressive correction of hypokalemia and hypomagnesemia commenced. With the resolution of the lower limb weakness, the patient was discharged home in a stable condition.

Clinical history and biochemical findings helped in expediting the final diagnosis of Gitelman syndrome. With prompt electrolyte repletion, the patient regained full function and sensation in his lower limbs. Owing to the limited number of reported Gitelman syndrome cases within the Middle East and North Africa region, it is critical to increase exposure and knowledge of Gitelman syndrome.