• Dongge Liang, Han Huang, and Yuelin Shen.
• Respiratory Department, Children's Hospital Affiliated to Zhengzhou University, Henan Children's hospital, Zhengzhou Children's Hospital, Zhengzhou, China.
• Chest. 2024 Jul 1; 166 (1): e5e10e5-e10.

AbstractA 14-year-old Chinese boy presented with a 7-year history of exertional dyspnea and reduced exercise tolerance. His perinatal and family histories were unremarkable. He was short and underweight for his age since childhood but had normal intellectual development. At 3 years of age, he was admitted to the ICU for severe pneumonia and anemia, and he received blood transfusion. He developed exertional dyspnea and reduced exercise tolerance at 7 years of age and became reluctant to run or jump, with poor appetite, abdominal distension, and refusal of protein-rich foods. At 13 years of age, he experienced a coma during school military training, and he was hospitalized for hyperammonemia (blood ammonia levels between 98 and 148 μmol/L; normal range, 18-72 μmol/L). Brain MRI showed no abnormalities. He improved after symptomatic treatment and was discharged, without taking any oral medication afterwards. However, his dyspnea and exercise tolerance worsened gradually. This patient was referred to Children's Hospital affiliated with Zhengzhou University for further investigation and management.Copyright © 2024 American College of Chest Physicians. Published by Elsevier Inc. All rights reserved.

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