Case 3: What's That Smell? The Significance of Infant Body Odors in the Evaluation of Metabolic Acidosis.

摘要: A 1.36-kg female infant is born to a 35-year-old gravida 5, para 3 woman via cesarean section at 32 weeks and 2 days of gestation because placental abruption. The pregnancy was complicated by polyhydramnios requiring multiple amnioreductions; fetal anatomy found be normal on ultrasonography. mother’s serologic findings are negative. infant’s Apgar scores 5 7 1 minutes, respectively. She admitted the NICU in room air. Specimens collected for complete blood cell count culture empiric antibiotics started. Given some dysmorphisms, samples sent chromosomal studies. Echocardiography head ultrasonography age. Enteral feeds started day after birth tolerated. On birth, creatinine concentration elevated with urine output. 4, she develops worsening kidney function urea nitrogen 128 mg/dL (45.7 mmol/L) 1.8 (137.25 μmol/L), hematuria, metabolic acidosis, respiratory failure intubation, neutropenia, hypocalcemia, tonic-clonic seizures. Renal reveals echogenicity without hydronephrosis. treated sodium bicarbonate, calcium gluconate, broad-spectrum antibiotics, levetiracetam, given nothing mouth, transferred further evaluation management subspecialists. Physical examination low-set ears, decreased muscle mass, elongated digits, small scapulas, prominent sacrum, musty odor, generalized hypotonia. ### Laboratory Findings On admission, her serum 141 mEq/L (141 chloride 81 (81 mmol/L); noted have values 130 (130 91 (91 mmol/L), respectively, 24 …