Index of SuspicionCase 1: Feeding Difficulties and Failure to Thrive in an InfantCase 2: Right Upper Quadrant Pain in a 17-Year-Old GirlCase 3: Conjugated Hyperbilirubinemia in an 11-Month-Old Boy

Hana Niebur; Erjola Balliu; Marian Kim; Javeed Akhter; Rachel Boykan; Maribeth Chitkara; Ayse Bag-Ozbek; Ruba K. Azzam; Joseph Hageman

doi:10.1542/pir.35-2-88

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The reader is encouraged to write possible diagnoses for each case before turning to the discussion. We invite readers to contribute case presentations and discussions. Please inquire first by contacting Dr. Deepak Kamat at DKamat@med.wayne.edu.

Case 1 Presentation

A 3-month-old African American girl presents with new-onset irritability and a 1-month history of nonbloody, nonbilious emesis. She also has persistent thrush despite treatment with oral application of nystatin. Her mother is concerned because the infant has lost weight during the past month.

The girl was born vaginally at term after an uncomplicated pregnancy with birth weight at the 50th percentile. Her birth was complicated by suspected fetomaternal hemorrhage, and she required a blood transfusion. After hospital discharge, she continues to be anemic and is taking a multivitamin with iron. She has received her 2-month immunizations, including rotavirus vaccine. Family history is noncontributory. She lives at home with her parents and older half-sister and does not attend daycare.

Physical examination reveals a very thin, fussy, but consolable infant. The vital signs are within normal limits for age, but weight is below the fifth percentile. White plaques with an erythematous base are observed on the tongue, gingiva, and oral mucosa. The remaining physical examination findings are normal.

Laboratory testing reveals normal values for complete metabolic panel, amylase, and lipase. Complete blood cell count reveals normocytic anemia with a hemoglobin level of 7.3 g/dL (73 g/L) and a hematocrit of 23.1% (0.23). Platelet counts are elevated at 712 × 10³/μL (712 × 10⁹/L). Total white blood cell count is normal, but the differential reveals lymphopenia, with an absolute lymphocyte count of 1,400/μL (1.4 × 10⁹/L).

The girl is hospitalized for further evaluation. An upper gastrointestinal tract series demonstrates esophageal lumen irregularity. Further procedures and laboratory evaluation reveal the diagnosis.