Searching for a Lead: Diagnosing a Rare Cause of Recurrent Intussusception

A 5-year-old girl with a history of insomnia and speech and fine motor delay presents with bilious emesis and intermittent abdominal pain (IAP) 3 days after being discharged from an outside hospital.The patient initially presented to the outside hospital with IAP, bilious emesis, and decreased urination. Her last bowel movement had been several days previously. Weight on that admission was 48.5 lb (22 kg) (89th percentile), and BMI was 17. Laboratory values were notable for a lipase level of 1,381 U/L (23.06 µkat/L); amylase level, 355 U/L (5.93 µkat/L); hemoglobin level, 11.8 g/dL (118 g/L); and white blood cell count, 11,080/µL (11.08 × 109/L). Abdominal ultrasonography showed small bowel–small bowel (SB-SB) intussusception. She underwent decompression with contrast enema, but no intussusception was demonstrated. Given her ongoing symptoms, A computed tomographic (CT) scan of the abdomen was obtained, again showing left upper quadrant (LUQ) SB intussusception. Laparoscopy was performed but revealed no intussusception or lead point. The patient then began having small, loose, pale stools. She was diagnosed as having pancreatitis, presumed acute viral process, and associated intestinal spasm with intermittent intussusception. A nasojejunal (NJ) tube was placed for enteral nutrition due to continued emesis, and she was discharged after a 12-day hospitalization. Weight at discharge was 42 lb (19 kg). Since discharge, she has had fatigue, IAP, vomiting of NJ feeds, and no bowel movements.In the emergency department, she is afebrile (97.5°F [36.4°C]), tachycardic (heart rate, 177 beats/min), and normotensive (blood pressure, 113/75 mm Hg). She currently weighs 40.6 lb (18.4 kg) (53rd percentile), with a BMI of 13.9 (23rd percentile). Height is 47.5 in (120.7 cm) (99th percentile). Mom reports no weight loss before initial onset of symptoms. She states that the patient is irritable at baseline. Physical examination is notable for ill appearance, pallor, sunken eyes, dry mucous membranes, delayed capillary refill, and bouts of IAP. She appears thin but is tall for age. Her abdomen is soft and diffusely tender to palpation, with guarding but without palpable masses, organomegaly, or rebound tenderness. Heart, lung, and bowel sounds are normal. She does not have jaundice or rash.After fluid resuscitation, the complete blood cell count is notable for a white blood cell count of 15,700/µL (15.7 × 109/L) with a neutrophilic predominance (67.3%), an elevated platelet count of 508 × 103/µL (508 × 109/L), and a normal hemoglobin level. The comprehensive metabolic panel was notable for the following values: sodium, 132 mEq/L (132 mmol/L); hemolyzed potassium, 5.0 mEq/L (5.0 mmol/L); chloride, 92 mEq/L (92 mmol/L); anion gap (mmol/L), 17; glucose, 119 mg/dL (6.6 mmol/L); carbon dioxide, 23 mEq/L (23 mmol/L); blood urea nitrogen, 21 mg/dL (7.5 mmol/L); creatinine, 0.57 mg/dL (50.39 μmol/L); calcium, 11.4 mg/dL (2.85 mmol/L); total bilirubin, 0.2 mg/dL (3.42 μmol/L); albumin, 4.7 g/dL (47 g/L); alkaline phosphatase, 140 U/L (2.34 µkat/L), aspartate aminotransferase, 30 U/L (0.50 µkat/L); and alanine aminotransferase, 15 U/L (0.25 µkat/L). Urinalysis, urine protein to creatinine ratio, erythrocyte sedimentation rate, C-reactive protein, lipase, and lactic acid levels are within normal limits.Abdominal radiograph shows no evidence of obstruction. Abdominal ultrasonography demonstrates intussusception (Fig 1). Initial CT of the abdomen and pelvis identifies LUQ and left lower quadrant SB-SB intussusception without an apparent lead point or mass and dilatation of the second and third parts of the duodenum (Fig 2). Exploratory laparotomy reveals the cause of her recurrent intussusception.When considering a child 6 to 36 months old presenting with acute-onset severe IAP, suspicion for intussusception should be high. (1) However, due to its variable presentation, especially outside of the typical age group, one must also consider conditions such as Meckel diverticulum, superior mesenteric artery syndrome, colitis, malrotation with midgut volvulus, gastroenteritis, appendicitis, ovarian torsion, mesenteric ischemia, peritonitis, intoxication, trauma, and sepsis. (1)Given this patient’s outside hospital course and emergency department presentation, the differential diagnosis focused on the etiology of recurrent intussusception. Potential lead points, such as inflammation due to preceding viral illness or inflammatory bowel disease, Meckel diverticulum, intestinal polyps (Peutz-Jeghers syndrome), or malignancy, were considered. However, no lead points were visualized on imaging studies. Conditions known to have an association with intussusception, such as IgA vasculitis and cystic fibrosis, were also considered. (2) IgA vasculitis was high on the differential diagnosis given that pancreatitis can be seen in atypical presentations. (3) However, she never developed a rash throughout her course and lacked renal abnormalities, making this less likely. Inflammatory bowel disease was lower on the differential diagnosis given the lack of family history and classic clinical findings such as bloody stools and chronic weight loss. Cystic fibrosis seemed unlikely given the negative family history, normal newborn screen, and no history of recurrent respiratory illnesses, wheezing, or coughing. In addition, many of her clinical features, including bilious emesis and pancreatitis, raised concern for superior mesenteric artery syndrome. However, without significant weight loss, surgery, or trauma before onset of symptoms and with intussusception, dilatation of the entire duodenum, and no vasculature abnormalities on imaging, this seemed less likely to be the main cause of her symptoms.The patient was made nil per os, intravenous fluids were started, and a nasogastric tube was placed alongside the NJ tube for gastric decompression. For the following 3 days, she continued having severe IAP and bilious emesis without bowel movements or flatus. A repeated CT scan revealed continued LUQ intussusception with mild upstream SB dilatation and new SB intussusception in the right lower quadrant without an obvious lead point (Fig 3). Surgery was consulted. Given the persistent location of LUQ SB-SB intussusception and signs of obstruction, exploratory laparotomy was performed. A jejunal intussusception was identified and reduced without evidence of vascular compromise. A 2-cm mass was palpated in the jejunum and appeared to be tethered proximally. The bowel was opened over the mass, revealing a trichobezoar. A 4-cm palpable mass was felt in the stomach and was discovered to be a second bezoar tethered to the first by strands of hair. Once the tether was divided, the trichobezoars were removed through gastrotomy and jejunal enterotomy.After removal of the trichobezoars, the patient had resolution of symptoms, had return of bowel function, and tolerated oral nutrition. The NJ tube was removed, and she began gaining weight. The patient was evaluated by psychiatry, who discovered that the patient had been pulling out and ingesting her hair for a year, consistent with trichotillomania and trichophagia. Mom had reported this to her pediatrician earlier in the month. On further investigation, the patient was noted to have sensory sensitivities and socioemotional reciprocity deficits. Hair pulling was thought to be self-stimulation in this context. Taken together with history of irritability and insomnia, the differential diagnosis for underlying diagnosis included autism, developmental delay, anxiety, and depression. Of note, questions regarding hair pulling/ingesting had not been asked previously, as she had no signs of alopecia, halitosis, or behavioral concerns during her course. She was referred for cognitive behavioral and developmental therapy and to developmental medicine. She was discharged home on hospital day 5 and followed up with surgery, where her weight was noted to be 47.4 lb (21.5 kg) (83rd percentile). She is currently awaiting an appointment with developmental medicine for further evaluation and no longer pulls or eats hair.Rapunzel syndrome is a rare cause of SB intussusception caused by a gastric trichobezoar with a tail extending into the SB. (4) By definition, a bezoar is a concretion of indigestible foreign material in the gastrointestinal tract; trichobezoars are made of hair. (4)(5)(6) Usually, hair becomes caught in the gastric mucosa and remains prepyloric. However, in Rapunzel syndrome, the hair passes through the pylorus to the small intestine and the colon, thus drawing its name from the famous fairy tale princess Rapunzel who “lets down her hair.” (4)(5) To date, there have been less than 40 cases of Rapunzel syndrome reported, with the youngest patient being 3 years old. (6) This condition is typically seen in female teenagers with a history of trichotillomania and trichophagia secondary to developmental delay, psychiatric disorders, or pica. (6) Delays in diagnosis are common because trichobezoars are not often included in the differential diagnosis of pediatric abdominal pain. Patients with a trichobezoar remain largely asymptomatic for years but eventually develop symptoms as the mass becomes obstructive. (4)(6) Early satiety, nausea, vomiting, abdominal pain, obstruction, and peritonitis are the most common presenting symptoms. (4)(6)(7) In severe cases, they may present with weight loss, intussusception, obstructive jaundice, acute pancreatitis, gastric ulceration, or malnutrition. (6) Interestingly, this patient lacked halitosis and alopecia, which can be 2 important clues on physical examination that point to a diagnosis of trichophagia. (6)Upper gastrointestinal endoscopy is the gold standard of trichobezoar diagnosis, although this may not allow visualization of the hair tail characteristic of Rapunzel syndrome. (7) CT scans can be helpful in identifying a trichobezoar, which appears as an air-containing heterogeneous mass within the stomach and/or intestines. (4)Treatment depends on the size of the mass. Small trichobezoars can be removed endoscopically; however, large trichobezoars, especially those complicated by Rapunzel syndrome, should be removed surgically. (8) After removal, psychiatric and psychological support are crucial to prevent recurrence. (4)(6)Common lead points for intussusception include Meckel diverticulum, hematoma, vasculitis, inflammation secondary to infection or inflammatory bowel disease, polyps, and foreign bodies. (2)It is important to consider intussusception beyond young childhood; in older children, it is likely to be associated with a pathologic lead point. (1)(2)Trichophagia often occurs in patients with a history of developmental delay, psychiatric disorders, childhood abuse or neglect, or bereavement. Clinicians should ask about hair-pulling behaviors if clinical suspicion is high. (4)(5)(6)Psychiatric and behavioral therapy are essential to prevent ongoing trichophagia. (4)(5)(6)Patients with a trichobezoar remain asymptomatic for years but eventually develop obstructive symptoms as the mass grows. (6)