Vomiting in a 40-day-old Infant with Consanguineous Parents.

Abstract

1. Carsten Krueger, MD*,† 2. Ruth McWhannell, MD*,† 3. Andreas Schulze, MD, PhD, FRCPC*,†,‡ 1. *Department of Paediatrics, §Department of Biochemistry, University of Toronto, Toronto, Ontario, Canada 2. †Division of General Paediatrics, 3. ‡Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario Canada A 40-day-old girl of Ghanaian descent presents to a general hospital with a 1 day history of nonbloody, nonbilious emesis. She was born to consanguineous parents who are first cousins. Her health has been good since her birth at term apart from a brief course of phototherapy for breastfeeding jaundice. Given her history of vomiting, she underwent an ultrasound evaluation to exclude pyloric stenosis at the general hospital. This revealed irregular gall bladder thickening, but, more impressively, a lobulated soft tissue mass at the pancreatic head that was 2 cm in diameter and surrounded by a moderate volume of complex ascites (Fig 1). Given her unusual presentation and imaging findings suggesting pancreatitis, she is transferred to a pediatric center for further diagnostic clarification and management. Figure 1. Abdominal ultrasound of the patient reveals a lobulated mass of the pancreatic head that is roughly 2 × 2 cm in diameter. Initial laboratory investigations are remarkable for an elevated lipase of >1,200 U/L (reference range, 4 to 39), a C-reactive protein of 91 mg/L (reference range, 0.1 to 1), triglycerides of 276 mmol/L (reference range, <1.7), high density lipoprotein (cholesterol) of 27 mmol/L (reference range, 3.2 to 4.5). A complete blood count, extended electrolyte panel, liver enzyme tests, and international normalized ratio are normal. She is admitted to general pediatrics and made nil per os, with maintenance fluids running through a peripheral intravenous (IV) catheter. She subsequently has an improvement in her blood work revealing triglycerides of 7.4 mmol/L and lipase of 470 U/L. The following night she becomes febrile …