A 2-Year-Old Girl With Chronic and Recurrent Emesis

Case Presentation

A healthy-appearing 2-year-old girl presented for a second opinion with the chief complaint of abdominal pain of 5 days' duration and vomiting for 1 day. Her emesis was described as forceful, nonbilious, and nonbloody. There was no preceding aura and the vomiting was not associated with eating. Her abdominal pain was midepigastric and sharp. She has had a 2-kg weight loss over the past 2 months and 2-4 formed, nonbloody stools daily. There were no other symptoms present.

Past medical history was significant for recurrent vomiting episodes. The vomiting initially began at 10 months of age. She has experienced at least 20 such episodes, including 2 hospitalizations for dehydration. The episodes occurred anywhere from every week to every 6 weeks and lasted from 1 to several days. She was treated with metoclopramide, ranitidine, omeprazole, and ondansetron without success. She has always had an excellent appetite and normal growth and development. There was no history of surgery or hospitalizations. Family history was significant for a maternal grandfather with gastroesophageal reflux disease and a maternal uncle and maternal grandmother with migraine headaches. There was no family history of food allergy. The patient had no known allergies and was not on any medications. Social history was noncontributory.

On physical exam, her weight was 11 kg (25th percentile), and her height was 87 cm (50th percentile). She was alert, pleasant, well-developed and nourished, and in no acute distress. The abdomen was soft, nontender, and nondistended. There were no masses or organomegaly present. The remainder of the physical exam was unremarkable.

1. What are the differential diagnoses?

   Gastrointestinal differential diagnosis of chronic recurrent vomiting is broad and includes infectious etiologies (Helicobacter pylori); anatomic abnormalities (malrotation, web, duplication cyst, stricture, superior mesentery artery syndrome); inflammatory conditions such as food allergy (eosinophilic esophagitis), celiac disease, and inflammatory bowel disease (Crohn's disease); gastroesophageal reflux, peptic ulcer disease, pancreatitis, gallbladder pathology, and dysmotility (postviral gastroparesis, achalasia). Neurologic causes include cyclic vomiting syndrome, hydrocephalus, brain tumor, abdominal migraine, pseudotumor cerebri, and seizures. Additional infectious etiologies that could present with vomiting include parasite infection, recurrent pneumonia, chronic sinusitis, and urinary tract infection. Other causes include metabolic disorders, obstructive uropathy, diabetes mellitus, adrenal insufficiency, and medications.

Readers are encouraged to respond to George Lundberg, MD, Editor of MedGenMed, for the editor's eye only or for possible publication via email: glundberg@medscape.net

Further Work-up

Basic metabolic panel, liver function tests, complete blood count with differential, serum amylase and lipase levels, urinalysis, serum ammonia, and serum amino acids were all normal. Head CT was normal, showing no signs of increased intracranial pressure or mass effect. Results of an upper gastrointestinal series with small-bowel follow-through were unremarkable. Results of esophagogastroduodenoscopy were normal. Additional testing included a brain MRI, kidney ultrasound, barium enema, and an electroencephalogram – all of which were normal.

On the basis of the frequency and chronic nature of the patient's symptoms, as well as lack of organic cause, she was given the diagnosis of cyclic vomiting syndrome. However, during a subsequent admission to the hospital for another vomiting episode, an abdominal mass was palpated in the upper right abdominal quadrant. An abdominal x-ray (Figure 1) and abdominal CT scan (Figures 2 a,b) were obtained.

• 2.What is your interpretation of the findings on abdominal x-ray and CT scan?

  A soft-tissue-density mass was seen in the right upper quadrant on the x-ray, and CT scan revealed a large, cystic mass measuring 6 × 6 cm within the right retroperitoneum.

Figure 1.

Figure 2.

Clinical Course and Diagnosis

The patient was taken to the operating room for excision of the mass. A cystic retroperitoneal mass was identified in the right upper quadrant. The mass was adherent to the duodenum as well as the small bowel mesentery. After mobilizing the right colon off of the anterior aspect of the mass, it was excised in its entirety; a bowel resection was not necessary. The histopathology is pictured below (Figure 3).

• 3.What is the diagnosis?

  Histopathology revealed the following: a unilocular cyst lined by enteric-type mucosa with focal mucosal congestion and edema, surrounded by intact muscularis propria, with focal extravasation of mucus and markedly congested fibrovascular tissue with calcifications. Findings were consistent with intestinal duplication cyst.

Figure 3.

Light microscopy, hematoxylin-eosin stain, low and high magnification.

Discussion

Intestinal duplications are rare congenital disorders. The exact embryogenic mechanisms remain unknown, although the notochord appears to play a role in gastrointestinal organogenesis and orientation. Intestinal duplications (Figure 4) can occur anywhere along the gastrointestinal tract, but the most common site is the terminal ileum. Symptoms depend on the area of the lesion and the type of mucosa lining the cyst. Esophageal duplications can present with respiratory difficulties, wheezing, or dysphagia. Gastrointestinal duplications can manifest as an abdominal mass with vomiting, obstruction, bleeding, and/or perforation. Duplication cysts can also serve as a lead point for intussusception. Lower gastrointestinal bleeding can occur in lesions lined with heterotopic gastric acid-secreting mucosa. Bleeding may also occur secondary to intussusception or stasis and bacterial overgrowth, leading to local ulceration.

Figure 4.

Ileal duplication cyst in an infant.

The characteristic feature distinguishing duplications from other intra-abdominal cystic lesions is the epithelial lining, which can vary from ciliated columnar ectopic respiratory epithelium to gastric mucosa with goblet cells and fundic glands. Multiple duplications in the same patient can occur, but this is unlikely. The average age at the time of diagnosis is 18 months. One study of 16 patients reported that half presented with intermittent vomiting before the age of 1 year.

Duplications may be seen on plain x-ray film, but CT scan is a more sensitive modality for detection – although most lesions will appear as a normal loop of bowel. Foregut duplications occurring in the thorax are identified nearly 90% of the time with anterior-posterior and lateral chest x-rays. Barium swallow is also useful in diagnosing intrathoracic lesions, as they may show compression or displacement of the esophagus. Technetium radionucleotide scan can be helpful if the duplication is lined with gastric mucosa. Ultrasound can demonstrate the “double-wall sign,” which is suggestive of the diagnosis, although histologic confirmation is needed. The classic sonographic appearance shows the cyst wall, the common wall, and the outer bowel wall. Endoscopic ultrasound has been reported as a useful diagnostic tool. The treatment of intestinal duplication is surgical excision. Recently, endoscopic treatment of a duodenal duplication cyst was reported.

In summary, this case highlights the importance of continuing diagnostic investigation. Our patient presented prior to 1 year of age with intermittent vomiting episodes occurring at irregular intervals, and it was not until the abdominal mass was palpated that the correct diagnosis was made.