Twenty-two-month-old girl seen in the emergency department (ED) after several hours of abdominal pain associated with non-bloody, non-bilious emesis. Over past 2 months, has had 7 or 8 similar episodes of abdominal pain followed by emesis 1 to 2 hours later.
Pain appeared severe, causing patient to cease all activity, clutch her epigastric region, cry, and remain in the fetal position. Mother unable to describe quality of pain or whether it radiated.
During all episodes, pain began suddenly and then continued intermittently for several hours. Emesis alleviated the pain. Temporal relationship of the start of abdominal pain to oral intake was not clear because episodes occurred at different times throughout the day. The patient's mother thought the intensity of pain was increasing. Between episodes, patient was playful, energetic, had good oral intake, and a varied diet. However, the mother noted some weight loss during the past month.
Her pediatrician, seen multiple times since the start of these episodes, had diagnosed gastritis. The patient had made 3 ED visits; laboratory study results were normal. Bowel intussusception was suspected but abdominal ultrasonographic findings were normal.
No history of sick contacts, trauma, or chemical ingestion. Patient's bowel habits normal; adequate urinary output. Immunizations up-to-date. No drug or food allergies. Developmentally appropriate.
Family history not contributory. Patient lived with her mother, father, 4 siblings, and dog. Six months before current episode, patient was taken to Mexico for 1 month. No other recent travel. Patient did not attend day care.
Past medical history relatively unremarkable. Born at 36 weeks' gestation via "repeat" cesarean section. Birth weight, 1820 g with moderate intrauterine growth restriction. Antenatal maternal α-fetoprotein (AFP) level said to be elevated, but further evaluation for fetal anomaly was not carried out. Patient admitted to neonatal ICU for 10 days after delivery because of poor oral intake. There were no respiratory problems during neonatal hospitalization.
At age 20 months, incontinentia pigmenti was diagnosed based on hypopigmented lesions on patient's extremities, which had been present since 2 months of age.
Notably thin. Weight, 8.3 kg (less than the third percentile); height, 83 cm (25th to 50th percentile). Afebrile; vital signs normal. Lungs clear. Regular heart rate and rhythm; no murmurs. Soft and non-distended abdomen; discomfort on palpation when the patient was awake but not while sleeping. No rebound tenderness or guarding. Bowel sounds decreased in the abdomen. Skin showed hypopigmented linear lesions along the lines of Blaschko on upper and lower extremities.
Complete metabolic panel and pancreatic enzyme levels all within normal limits. Normal white blood cell count and differential. Low hemoglobin (9.3 g/dL) and hematocrit (29.9%). Patient hospitalized for further evaluation.
IMAGING STUDY RESULTS
Intussusception ruled out by ultrasonography. Abdominal flat plate radiographs-obtained to evaluate for possible intermittent volvulus and bowel obstruction- showed tubular radiolucencies in the upper abdomen extending to the chest toward the midline. Decreased gas noted in lower abdomen (Figure 1). Chest fluoroscopy showed several rounded lucencies in the midlineof the chest on right and left sites, with a tubular structure passing over the gastroesophageal junction. An enlarged cardiac silhouette was also noted (Figure 2).
WHAT'S YOUR DIAGNOSIS?