Rapunzel Syndrome: A Rare Cause of Biliary Obstruction

Abstract

Rapunzel syndrome is a rare manifestation of gastric trichobezoars with strands of hair extending beyond the pylorus into the small intestine, and occasionally up to the colon. So far, only 29 cases of Rapunzel syndrome have been reported in the literature worldwide, with the first case described in 1968 (1). With the exception of 1 male, all of the other reported cases were females. Nausea, vomiting, abdominal pain, and symptoms of obstruction were the common presenting features. Trichobezoars rarely results in biliary obstruction or pancreatitis. We describe a 3-year-old girl with Rapunzel syndrome presenting with a picture of cholestasis because of biliary obstruction from a trichobezoar. CASE REPORT A 3-year-old girl with no significant medical history presented to the emergency department with a 3-month history of intermittent cramping and nonlocalized abdominal pain. She complained of nonbilious, nonbloody vomiting with a 4-lb weight loss during the same time period. Patient had loose stools, fatigue, and low-grade fevers for 1 week and was noted to be jaundiced 5 days before presentation. On physical examination, the girl's weight was at the 50th percentile and height at the 90th percentile with normal vital signs. Her hair was cut in a haphazard manner with shorter hair in front without areas of alopecia. The abdomen was soft, nondistended, nontender with no palpable masses, and no overt or occult blood in stools. The patient defervesced after admission and remained afebrile thereafter. Laboratory values measured at a community hospital 3 days before admission had shown aspartate amino transferace (AST) 116 IU/L, alanine aminotransferace (ALT) 147 IU/L, alkaline phosphatase 314 IU/L, and total bilirubin 0.1 mg/dL. On admission to our hospital, the ALT and AST increased to 1129 IU/L and 2000 IU/L, respectively. Alkaline phosphatase had risen to 694 IU/L and GGT was 251 IU/L. Total bilirubin was 1.4 mg/dL with a direct fraction of 0.9 mg/dL. Coagulation was normal with a prothrombin time of 14.1 seconds, a partial thromboplastin time of 28.9 seconds, and an international normalized ratio of 0.9. Amylase, lipase, complete blood cell count, and blood chemistries were normal. The result of the viral hepatitis panel was negative. On the second day of admission, the liver enzymes decreased: AST 140 IU/L, ALT 381 IU/L, and alkaline phosphatase 369 IU/L. Total bilirubin and direct bilirubin continued to rise to 3 and 2.1 mg/dL, respectively. Abdominal ultrasound performed on the second day of admission demonstrated a dilated common bile duct (CBD) measuring 6.3 mm (normal <3.3 mm) (2) without evidence of cholelithiasis. A subsequent magnetic resonance cholangiopancreatography revealed 2 masses in the abdomen, 1 located in the right mid-abdomen measuring 4 cm × 4 cm and another overlying the left kidney measuring 4 cm × 8 cm. The CBD appeared dilated with no evidence of stones (Fig. 1). Computed tomography of the abdomen performed for further clarification showed possible small bowel intussusception in the region of the previous reported masses. The final diagnostic study was an endoscopic retrograde cholangiopancreatography (ERCP) that revealed a trichobezoar in the stomach, originating in the lower half of the body of the stomach and extending into the duodenum past the sphincter of Oddi with the end of its tail not visualized. The pancreatic duct and CBD were normal on cholangiogram with no ductal stones or areas of narrowing noted. During the procedure the bezoar was seen to abut the duodenal papilla and intermittently obstruct it. The bezoar was surgically removed from the stomach and small intestine via exploratory laparotomy and gastrotomy (Fig. 2). Postoperatively, the patient's liver panel showed marked improvement. The patient resumed a normal diet and had no further symptoms on follow-up in the next 3 months. She was referred for individual psychotherapy and behavior modification therapy addressing trichophagia.FIGURE 1: Magnetic resonance cholangiopancreatography showing intra- and extrahepatic bile duct and distal pancreatic duct dilatation.FIGURE 2: Trichobezoar with a long tail that extended down into the small intestine.DISCUSSION Trichobezoars are concretions of ingested hair found in the gastrointestinal tract, especially the stomach. Retention of slippery hair strands in the gastric mucosal folds prevents their propulsion by peristalsis with the strands eventually forming a ball of matted hair (3,4). Pediatric trichobezoars usually go undiagnosed until they grow to sufficient size to cause symptoms of obstruction of the gastric outlet or small intestine (5). Trichobezoars are most commonly found in young girls with a history of psychiatric disorders (6). Most patients deny a history of ingesting hair when asked. In our patient with no psychiatric history, the diagnosis of trichobezoar was low in our differential. The history of hair ingestion was elicited only after the trichobezoar was found on ERCP. Of the 29 cases reported in the literature, our patient is the youngest. Presenting symptoms include abdominal pain (37%), nausea and vomiting (33.3%), obstruction (25.9%), peritonitis (18.3%), and weight loss (7.4%) (1). Pancreatitis has been previously described in association with Rapunzel syndrome (7,8). Physical examination would classically reveal a palpable indentable mass in the upper abdomen, known as the Lamerton sign. Barium meal, computed tomography, and magnetic resonance imaging are useful modalities for radiological diagnosis, and an endoscopy usually confirms the diagnosis. Review of the literature reveals that conservative management of trichobezoars has resulted in poor outcomes. Endoscopic removal is possible but is difficult in most cases because of separation of strands of hair while pulling on the bezoar. When indicated, surgical extraction by gastrostomy and enterotomy is recommended (6,9). Recurrence of trichobezoars is not uncommon. Pharmacotherapy with selective serotonin reuptake inhibitors along with psychotherapy and behavioral modification are key components to preventing recurrences (10). Our patient presented with symptoms of biliary obstruction, which is a rare presentation of trichobezoars. The obstruction was evident during ERCP when we visualized the tail of the bezoar blocking the duodenal papilla. Our hypothesis regarding the mechanism of obstruction was confirmed with the normalization of liver panel immediately after removal of the trichobezoar. CONCLUSIONS We report a rare case of Rapunzel syndrome causing cholestasis with biliary obstruction. The present case illustrates the importance of a thorough physical examination, which can help in the diagnosis of trichotillomania. Trichobezoar should be considered in the differential diagnosis for cholestasis in the presence of signs of trichotillomania.