Gitelman syndrome presenting with lower limb paralysis: a case report

Area of Science:

• Nephrology
• Genetics
• Internal Medicine

Background:

• Gitelman syndrome is a rare autosomal recessive kidney disorder affecting distal convoluted tubules.
• It presents with symptoms like muscle weakness, fatigue, and paralysis.
• Limited case reports exist in the Middle East and North Africa, necessitating increased awareness.

Purpose of the Study:

• To report a case of Gitelman syndrome with hypokalemic periodic paralysis.
• To highlight the importance of prompt diagnosis and management in a region with scarce data.
• To increase awareness of Gitelman syndrome and its rare presentations.

Main Methods:

• Case report of a 17-year-old Egyptian male with progressive lower limb weakness.
• Clinical examination revealing severe limb weakness and laboratory investigations.
• Diagnosis confirmed by clinical history, biochemical findings (hypokalemia, hypomagnesemia, metabolic alkalosis, hypocalciuria, hyperreninemia), and family history.

Main Results:

• The patient presented with severe hypokalemic periodic paralysis and electrolyte imbalances.
• Diagnosis of Gitelman syndrome was established based on clinical and biochemical evidence.
• Aggressive correction of hypokalemia and hypomagnesemia led to full recovery of lower limb function.

Conclusions:

• Clinical history and biochemical findings are key to diagnosing Gitelman syndrome.
• Prompt electrolyte repletion is effective in resolving paralysis and restoring function.
• Increased awareness and reporting of Gitelman syndrome cases in the MENA region are critical.