A Term Newborn with Respiratory Distress, Acidosis, and Hypoglycemia

[摘要] A term newborn developed respiratory distress shortly after birth. The pregnancy was notable for intrauterine growth restriction and oligohydramnios. Fetal ultrasound performed at 30-weeks gestation showed enlarged kidneys and an echogenic focus in the left cardiac ventricle. On day 2 of life, the child was admitted with metabolic acidosis (total CO2 = 12 mmol/L; reference interval: 18–28 mmol/L), hypoglycemia (plasma glucose = 38 mg/dL; reference interval: 63–90 mg/dL), hyperbilirubinemia (direct bilirubin = 0.5 mg/dL; reference interval: <0.3 mg/dL) and hyperammonemia (plasma ammonia = 230 μmol/L; reference interval: <100 μmol/L). Urine was negative for ketones by dipstick. Physical examination showed an infant with growth restriction and facial dysmorphism with midface hypoplasia, broad nasal root, and flat philtrum. Additionally, a strong odor, described as “sweaty feet” was noted. A urine sample was collected for organic acid analysis using GC-MS. The chromatogram is shown in Fig. 1.Fig. 1. Organic acid analysis of patient urine by use of GC-MS.Urine organic acids were extracted into ethyl acetate/ether and converted to trimethylsilyl derivatives prior to analysis using a GC 6890N/MS 5975 system equipped with a DB-1 column (Agilent). IS, internal …

[学科分类] 过敏症与临床免疫学