• Ying Zhang, Xuan Li, Xiao-Jun Wang, Ju-Pin Yang, Ju-Mei Li, Wen-Qian Yuan, Yu-Ying Dong, Jin-Peng Yu, Yu Wen, and Ming-Wei Liu.
• Department of Child Rehabilitation, Dali Bai Autonomous Prefecture People's Hospital, Dali, Yunnan, China.
• Medicine (Baltimore). 2024 Aug 16; 103 (33): e39446e39446.

RationaleThis study reports the first case of congenital hypothyroidism (CH) and alpha thalassemia in a child in China, with anemia and muscle damage as the main manifestations. Analyzing and studying this case is of great significance in reducing missed and misdiagnosed CH and will provide a clinical strategy for treating these patients.Patient ConcernsChild, female, 2 years and 7 months old, the child appeared dispirited, had poor appetite, shallow complexion, reduced activities with anemia, elevated muscle enzymes, height, and growth retardation.DiagnosesThe child was diagnosed with CH with alpha thalassemia.InterventionsThe patient was treated with levothyroxine sodium and anemia correction.OutcomesThe children's current spirit, appetite, red face, normal limb activity, physical development, and intelligence were significantly better than those of normal children of the same age.ConclusionsCH with alpha thalassemia, especially anemia and muscle damage as the main manifestations, has not been reported. Administration of levothyroxine sodium is effective in correcting anemia in patients with CH and alpha thalassemia.LessonDue to CH and alpha thalassemia, there are no specific symptoms and they are prone to missed diagnosis and misdiagnosis. Therefore, patients with anemia and elevated muscle enzyme levels should be routinely tested for thyroid function to diagnose them early and provide proper treatment to avoid negative consequences.Copyright © 2024 the Author(s). Published by Wolters Kluwer Health, Inc.

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