Case 3: Hypoglycemia in an Infant with Cholestasis

Nivedita Patni; Kathleen Collins; Perrin White

doi:10.1542/pir.2017-0209

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Nivedita Patni, MD*
Kathleen Collins, MD^†
Perrin White, MD*

^*Division of Pediatric Endocrinology, Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX
^†Division of Allergy, Immunology, and Rheumatology, Department of Pediatrics, Stanford University, Palo Alto, CA

AUTHOR DISCLOSURE
Dr Patni has disclosed no financial relationships relevant to this article. Dr Collins has disclosed that she received National Institutes of Health (NIH) training grant 2T32AR050942-11 for a pediatric fellowship research project related to adult and pediatric rheumatology. Dr White has disclosed that he has a grant from Janssen Pharmaceuticals for an NIH-funded clinical drug trial. This commentary does not contain a discussion of an unapproved/investigative use of a commercial product/device.

Presentation

An 8-week-old boy presents with 2 days of worsening jaundice, lethargy, and poor feeding, without fever, vomiting, or diarrhea. At term he weighed 3,400 g (43rd percentile), had hypoglycemia on day 1, and received hyperbilirubinemia phototherapy for 5 days. Physical examination is noteworthy for a lethargic and jaundiced boy weighing 4,300 g (8th percentile). The liver edge is 4 cm below the costal margin. The phallus is 1.7 × 0.7 cm, with no hypospadias, normal scrotum, and descended testes.

Initial laboratory results are as follows: blood glucose, less than 20 mg/dL (<1.11 mmol/L); total/direct bilirubin, 17.8/13.5 mg/dL (304.4/230.9 μmol/L); alanine aminotransferase/aspartate aminotransferase, 258/686 U/L (4.31/11.46 μkat/L); free thyroxine, 0.96 ng/dL (12.4 pmol/L); and thyrotropin, 4.36 μIU/mL (4.36 mIU/L).

An intravenous glucose infusion is started, and the patient is admitted to the hospital. Liver ultrasonography reveals nonspecific coarse echogenicity with gallbladder wall thickening. Liver biopsy shows marked hepatocellular cholestasis, disarray and giant cell transformation, mild portal inflammation and portal fibrosis with early bridging fibrosis, and no abnormal storage material. Testing for herpes simplex virus types 1 and 2, enterovirus, Epstein-Barr virus, cytomegalovirus, adenovirus, human immunodeficiency …