• Rongrong Wang, Yan Zhang, Runzhou Pan, Rongju Zhang, and Yongcai Zhao.
• Cangzhou Central Hospital, Cangzhou, Hebei, China.
• Medicine (Baltimore). 2023 Nov 24; 102 (47): e35944e35944.

IntroductionLiddle syndrome is an autosomal dominant disorder characterized by hypertension, hypokalemia, low aldosterone levels, and reduced renin activity. Atypical Liddle syndrome can be easily misdiagnosed due to its clinical phenotypes resembling hyperaldosteronism.Patient ConcernThe patient was diagnosed with primary aldosteronism due to hypertension and hypokalemia, and underwent left adrenalectomy. After the operation, the patient still had hypertension and hypokalemia that were not easy to control and correct, and had acute cerebral infarction.DiagnosisThe genetic test showed that the base duplication in the coding region of SCN1B gene caused a frameshift mutation:c.1789dupC (p.Arg597fs), Liddle syndrome was diagnosed.Intervention And OutcomesThe patient was treated with a low-sodium diet and oral triamterene. The serum potassium level returned to normal and the blood pressure was controlled.LessonsSome Liddle syndrome may present with normal aldosterone levels, genetic testing is necessary for the diagnosis. If the diagnostic test of primary aldosteronism is positive, but the treatment with spironolactone is ineffective, we should actively search for other causes.Copyright © 2023 the Author(s). Published by Wolters Kluwer Health, Inc.

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