Dilated Cardiomyopathy in a 2-Year-Old Infant

[摘要] A 2-year-old male presented following several weeks of increasing lethargy, poor growth, and difficulty breathing. He also had a mild lactic acidosis (plasma lactate, 2.1 mmol/L; reference interval: 0.9–1.2 mmol/L). As part of the investigation into his labored breathing, an echocardiogram was performed, which revealed markedly depressed left ventricular (LV)3 function secondary to dilated cardiomyopathy. Blood results demonstrated a mildly decreased white cell count of 5.82 k/mm3 (reference interval: 6.00–17.00 k/mm3), of which 20% were neutrophils (reference interval: 25%–45%). The possibility of an underlying metabolic etiology was considered. A urine sample was collected for organic acids analysis by GC-MS. The results are shown in Fig. 1.Fig. 1. Organic acids analysis of patient urine using GC-MS.Urine organic acids were extracted into ethyl acetate/ether and converted to trimethylsilyl (TMS) derivatives prior to analysis using a GC 6890N/MS 5975 system equipped with a DB-1 column (Agilent). IS, internal standard; PDA, pentadecanoate.The clinical and laboratory findings in this patient …

[学科分类] 过敏症与临床免疫学