A Rare Diagnosis Masquerading as Sepsis in a Young Infant

Abstract

A 2-month-old previously healthy, full-term female presented with fever, nonbloody emesis, and melena. On presentation, she was febrile, in status epilepticus requiring antiepileptic medications, and hypotensive requiring fluid resuscitation, inotropic support, and rapid sequence intubation. Initial physical exam was notable for pulmonary rales, abdominal distention, and signs of severe dehydration but no dysmorphic features or palpable lymphadenopathy.Laboratory investigation revealed leukocytosis (23 × 10 3 µ/L) with left shift, thrombocytosis (798 × 10 3 / µL), elevated c-reactive protein (CRP) (8.2 mg/dL), elevated procalcitonin (31.76 ng/mL), elevated erythrocyte sedimentation rate (ESR) (66 mm/h), normocytic anemia (Hgb 8.7 g/dL), hypoalbuminemia (2 g/dL), hypocalcemia (5.1mg/dL), hyperphosphatemia (13.8 mg/dL), coagulopathy (PT 16.1 seconds, INR 1.3, PTT 39 seconds), elevated parathyroid hormone (PTH) (357 pg/mL), 25-OH Vitamin D deficiency (<4 ng/mL), and acute kidney injury (BUN 50 mg/dL, Cr 1.5 mg/dL). Electrolytes were significant for a hypochloremic metabolic acidosis (CO2 13). Blood, urine, and cerebrospinal fluid (CSF) cultures were negative. CSF cell count revealed 2 WBC, 465 RBC, 34% neutrophils, 22% lymphocytes, 42% macrophages, 2% eosinophils. SARS-CoV-2, RSV, and Influenza nasopharyngeal swabs and HSV 1/2 serum PCRs were negative. Virginia newborn metabolic screen was normal.Radiographic investigation showed dilated loops of bowel on the computed tomography (CT) of the abdomen and pelvis and unremarkable head CT. Extensive bilateral pulmonary opacities were seen on X-ray. Splenic evaluation