HISTORY OF PRESENT ILLNESS
The patient, an 8-year-old boy, was well until 4 hours prior to presentation. At that time he developed crampy periumbilical pain and bilious emesis. His family denied fever, diarrhea, or ill contacts. The pain was described as crampy and intermittent. He had six episodes of emesis prior to admission. His last bowel movement was 1 day prior to admission. His mother gave him an enema prior to presentation with no relief of symptoms.
The patient was a full-term infant without complications. His first episode of abdominal pain and bilious vomiting occurred about 3 years ago. During the past few years the pain and vomiting had been occurring about once every 4 months. The patient would have 2-3 days of emesis that was usually bilious and associated with abdominal pain. He had recently been treated with phenobarbital and atropine without good results. He also had a history of chronic constipation that responded to mineral oil. Three months prior to presentation he was admitted with similar symptoms and had a normal abdominal CT. The pain was never associated with eating and he never missed school. There was no family history of celiac disease, cystic fibrosis, or any gastrointestinal condition such as inflammatory bowel disease.
T 36.5°C; HR 11 bpm; RR 24 bpm; BP 135/85 mmHg
Weight 26 kg
Physical examination revealed an alert child lying in bed crying in pain. There were no oral lesions. The neck was supple with no lymphadenopathy. The lungs were clear to auscultation and the cardiac examination reveals no murmurs, rubs, or gallops. On abdominal examination there were diminished bowel sounds and although soft there was intermittent guarding and a question of a mass in the left upper quadrant with no focal tenderness. There was no hepatosplenomegaly. Rectal examination revealed no fissures or skin tags; there was hard stool palpable in the rectal vault on digital examination. He was a Tanner I male. The neurologic examination was normal.
Complete blood count showed a white blood count of 14 500/mm3 with 80% segmented neutrophils, 3% band forms, 7% lymphocytes, and 2% eosinophils. The hemoglobin was 12 g/dL; hematocrit, 39.4%; and platelet count, 314 000/mm3. Serum bicarbonate was 18 mEq/L but the electrolytes, blood urea nitrogen, and creatinine were otherwise normal. Liver function tests, amylase, and lipase were also normal. Urinalysis was negative except for the presence of ketones.
COURSE OF ILLNESS
The patient had an abdominal radiograph that showed a paucity of bowel gas, stool in the rectum, and no free air. An upper GI series revealed the cause of the patient’s cyclic vomiting (Figure 7-5).
FIGURE 7-5. Upper GI series.
DISCUSSION CASE 7-5
While the differential diagnosis of abdominal pain and vomiting is an important one, the key to the diagnosis in this patient was the cyclic nature of the vomiting. Cyclic vomiting syndrome is an idiopathic disorder characterized by severe episodic vomiting interspersed with periods of normal health. In a study of patients with cyclic vomiting syndrome, 12% were found to have potentially life-threatening disorders such as malrotation with volvulus, obstructive uropathy, or brain tumors. The most common cause of cyclic vomiting, accounting for as many as 50% of cases, is abdominal migraine. The family history is usually significant for migraines. The second most common cause is chronic sinusitis.
Apart from malrotation with intermittent volvulus, other gastrointestinal causes of cyclic vomiting include chronic idiopathic pseudoobstruction, intestinal duplication, pancreatitis or pancreatic pseudocyst, peptic ulcer disease, and superior mesenteric artery syndrome. Urinary tract etiologies include renal stones and intermittent ureteropelvic junction obstruction. There are also several endocrinologic and metabolic etiologies for cyclic vomiting including Addison disease, porphyria, ornithine transcarbamylase deficiency, methyl malonic acidemia, and hereditary fructose intolerance.
On the upper GI barium study, the ligament of Treitz was located at the midline in an abnormal position compatible with a midgut malrotation (Figure 7-5). The intraluminal contrast tapered in the proximal jejunum in an appearance compatible with the presence of a midgut volvulus. The patient was diagnosed with malrotation. Following the identification of malrotation on the upper GI, the patient underwent a Ladd procedure with appendectomy.
INCIDENCE AND EPIDEMIOLOGY OF MALROTATION
Understanding the underlying embryology that leads to malrotation is very important. At approximately 10 weeks’ gestation, the intestines undergo counterclockwise rotation around the mesenteric artery and finally attach themselves to the posterior abdominal wall. The midgut then rotates 270 degrees around the superior mesenteric artery, with the duodenal-jejunal loop moving posterior to the superior mesenteric artery while the cecalcolic loop rotates anterior to the superior mesenteric artery. The duodenum and ascending colon can then attach to the posterior abdominal wall. This process of rotation and attachment helps to support normal GI tract motility as well as balanced gut to mesentery vascular supply.
With malrotation, the normal process is impeded and the cecum is in the right upper quadrant, near the duodenum, while the duodenal-jejunal loop remains to the right of midline. Because there is no mesenteric attachment, volvulus of the midgut is likely to occur with malrotation. The incidence of volvulus in association with malrotation is 44% in all age groups, but in neonates it is more likely to require bowel resection because of more significant damage to the bowel.
CLINICAL PRESENTATION OF MALROTATION
The clinical presentation of malrotation can vary widely. It is important to note that malrotation is commonly associated with other gastrointestinal anomalies, namely esophageal atresia, diaphragmatic hernia, jejunal atresia, duodenal atresia, omphalocele, gastroschisis, intussusception, prunebelly syndrome, and Hirschsprung disease. It has also been seen in association with heterotaxy and congenital heart disease.
Malrotation with midgut volvulus can occur at any age, but is most commonly seen in infancy. Acute volvulus presents with bilious emesis, abdominal distention, pain (constant rather than intermittent), and bright red blood per rectum (suggesting ischemia). It is a surgical emergency and untreated ischemic bowel can lead to shock and sepsis with cardiovascular collapse.
A less commonly seen entity is malrotation with intermittent volvulus and usually presents with recurrent abdominal pain and vomiting and signs of failure to thrive.
Radiologic studies. Plain radiographs can reassure the clinician of the absence of intestinal perforation. CT is not recommended in children. Although both the barium enema and upper GI series can be used, the upper GI series is now preferred because of the possibility of cecal mobility on barium enema and its inability to show volvulus. An upper GI series that definitively shows malrotation includes one that reveals the corkscrew-like deformity of the duodenum, one that reveals the duodenum and jejunum in the right upper quadrant, or chronic obstruction of the duodenum.
In neonates, any suggestion of volvulus indicates the possibility of ischemic gut and necessitates immediate surgical intervention. In older patients with rotational abnormalities definitive surgery is also performed. Timing depends on the presentation of the patient. If possible, patients should be prepared for surgery with nasogastric suction, fluid resuscitation, and prophylactic antibiotics to cover the possibility of bowel resection. The Ladd procedure allows definitive treatment with counterclockwise derotation of the midgut volvulus, lysis of bands, appendectomy, and placement of the duodenum in the right side of the abdomen and of the cecum in the left lower quadrant.
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