DELAYED DIAGNOSIS OF BARTTER SYNDROME IN AN ADULT PRESENTING WITH PROFOUND HYPOKALEMIC PARALYSIS
Dr Avesh Kumara b, Dr Duroov Bhagatc, Aakash Kumara b, Kumari Varsha Lohanad, Dr Anousha Ahmede, Mehak Devif
- aMD, Jinnah Postgraduate Medical Centre
- bPostgraduate Trainee Neurology, Jinnah Postgraduate Medical Center JPMC
- cPost Gradiuate Trainee Internal Medicine, Jinnah Postgraduate Medical Center JPMC
- dMD, Institute Peoples University of Medical and Health Sciences for Women
- eHouse Officer, Jinnah Postgraduate Medical Center
- f3rd year MBBS Student, Jinnah Medical and Dental College
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Abstract
Introduction: Bartter syndrome is a rare autosomal recessive renal tubulopathy characterized by renal salt wasting, hypokalemia, and metabolic alkalosis. Although it usually presents during infancy or childhood, adult-onset disease is uncommon. Severe hypokalemia may cause neuromuscular manifestations such as acute paralysis and can mimic neurological disorders. Case Presentation: A 19-year-old man presented with progressive weakness and paralysis involving all four limbs. He had a previous episode of painful lower-limb cramps following gastroenteritis. Examination revealed muscle power of 1/5 in all limbs, diffuse hyporeflexia, and blood pressure of 90/60 mmHg. Laboratory investigations showed severe hypokalemia (1.4 mEq/L), alkalemia (pH 7.5), and bicarbonate of 28.7 mmol/L. Urinary investigations demonstrated renal electrolyte wasting, supporting Bartter syndrome. Duodenal biopsy confirmed severe giardiasis. Following intravenous potassium and fluid replacement, muscle weakness improved within one to two hours. Conclusion: Adult-onset Bartter syndrome can rarely present as severe hypokalemic paralysis. Early recognition and potassium replacement are essential for rapid recovery.