Clin J Gastroenterol DOI 10.1007/s12328-015-0578-7

CASE REPORT

Rapunzel syndrome presenting as jejuno-jejunal intussusception Sanjay Marwah1 • Siddharth Pandey1 • Abhishek Raj1 • Mahavir Singh Jangra1 Himanshu Sharma1



Received: 27 April 2015 / Accepted: 11 June 2015 Ó Springer Japan 2015

Abstract The term Rapunzel syndrome is used to describe a trichobezoar of the stomach with a long tail of hair extending into the duodenum and small intestine. It is a rare clinical entity, and it is even rarer in these cases that jejuno-jejunal intussusception and resulting intestinal obstruction is a presenting feature. We report one such case, a young female who presented in the emergency department with abdominal pain and bilious vomiting of short duration. Contrast-enhanced CT of the abdomen enabled a diagnosis of a trichobezoar in the stomach extending into the small gut, along with jejuno-jejunal intussusception. On exploration, gastrotomy was performed to remove the gastric trichobezoar, and jejuno-jejunal intussusception was found on three segments in the proximal jejunum, which was resolved upon complete removal of the tail of the bezoar. This case report is unusual, since intussusception is a rare occurrence in Rapunzel syndrome, and this is the first time that it has been diagnosed preoperatively. Keywords Rapunzel syndrome  Intestinal obstruction  Intussusception

Introduction Rapunzel syndrome is a rare type of trichobezoar, with a variable degree of involvement of the duodenum and intestines [1]. It usually occurs in young females and & Sanjay Marwah [email protected] 1

Post Graduate Institute of Medical Sciences-Surgery, 2452, Sector I, HUDA Rohtak, Rohtak 124001, Haryana, India

presents with upper GI symptoms of abdominal pain, nausea and vomiting. In delayed and neglected cases, complications such as intestinal obstruction and gut perforation can occur, leading to peritonitis, with its associated morbidity and mortality. It is very unusual in these cases to have intestinal obstruction due to jejuno-jejunal intussusception as a presenting feature [2]. Here we report one such case that was diagnosed preoperatively and was managed successfully by surgical intervention.

Case report A 15-year-old female patient presented in the emergency department with chief complaints of abdominal pain for 15 days and vomiting for 5 days. The pain was mid-abdominal and colicky, whereas the vomiting was bilious, projectile and foul-smelling. There was no history of fever, hematemesis, melena, altered bowel habits or previous such episodes of pain and vomiting. Physical examination revealed that her vital signs were normal (temperature 37 °C, blood pressure 120/76 mmHg and pulse 76/min, regular and good volume). On abdominal examination, a sausage-shaped lump was visible in the upper abdomen, and palpation revealed a non-tender intra-abdominal lump in the epigastrium and left hypochondrium that was firm and smooth, measuring 10 9 5 cm, mobile side to side, and moving with respiration. The margins of the lump were ill-defined, but finger insinuation between the lump and the left costal margin was possible. There was no succussion splash, and the mass was dull on percussion. Bowel sounds were increased. Routine hematological and biochemical workup was normal. Contrast-enhanced CT (CECT) of the abdomen detected a heterogenous, well-circumscribed mass showing a mottled gas pattern and compressed ring

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pattern in the stomach, reaching up to the jejunum. The mass was non-enhancing, and the stomach wall was clearly separated from the mass, enabling the diagnosis of a trichobezoar. The extension of the tail of the trichobezoar to the jejunum was that classically seen in Rapunzel syndrome (Fig. 1a–d). Moreover, diffuse thickening of the jejunum, with a doughnut-shaped configuration (target lesion or bull’s eye sign) characteristic of jejunal intussusception, was seen in the sagittal section (Fig. 1c). On retrospective questioning, the patient’s mother admitted that her daughter had a history of trichophagia. However, the patient herself denied eating hair in the past, and no frontal baldness was observed on examination. Upper GI endoscopy confirmed the diagnosis of trichobezoar. A huge hairball was seen occupying the entire stomach, and could not be mobilized with the endoscope. Thus the endoscope could not be negotiated beyond the gastric fundus. The patient underwent laparotomy with a midline supra-umbilical incision. The wall of the stomach, duodenum and proximal jejunum was thickened. An anterior gastrotomy 5 cm in length was performed on the

Fig. 1 Contrast-enhanced CT scan of the abdomen. a Sagittal section showing trichobezoar in the stomach (white arrow) and duodenum (red arrow). b Sagittal section showing trichobezoar in the stomach (white arrow) and proximal jejunum (red arrow). c Sagittal section

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body of the stomach, and a foul-smelling bezoar occupying the whole of the stomach was gently extracted en bloc. The tail of the bezoar was very long, extending to the midjejunum (Fig. 2a–d). Jejuno-jejunal intussusception was present in three segments in the proximal jejunum, which was resolved upon complete removal of the tail of the bezoar, thus confirming that the bezoar was the cause of intussusception. Ingredient analysis of the bezoar revealed a matted ball of denatured and dead hairs enmeshed in mucus. The postoperative period was uneventful, and the patient was allowed oral feeding on the third postoperative day. Psychiatric consultation was performed, and the patient and her family received counseling. The patient was put on fluoxetine tablets at the time of hospital discharge.

Discussion A bezoar is a tightly packed mass of undigested material found trapped in the gastrointestinal system, usually in the stomach. A bezoar in the large intestine is known as a

showing diffuse thickening of jejunum, with a doughnut-shaped configuration (target lesion or bull’s eye sign) characteristic of jejunal intussusception (red arrow). d Coronal section showing trichobezoar in the stomach (white arrow) and proximal jejunum (red arrow)

Clin J Gastroenterol Fig. 2 Operative photograph. a Anterior stomach wall bulging due to trichobezoar. b Anterior gastrotomy showing trichobezoar in the gastric cavity. c Trichobezoar along with its tail is being delivered through gastrotomy. d Whole of the trichobezoar showing stomach cast, C-loop of duodenum and long tail retrieved from small intestine

fecalith. Bezoars in the stomach most commonly consist of a tuft of hair, referred to as a trichobezoar. Other rare types of bezoars are composed of cellulose-rich plant material (phytobezoars), inspissated milk (lactobezoars) or semi-liquid masses of drugs/tablets (pharmacobezoars). Gastroparesis is a risk factor for developing gastric bezoars. Patients with diabetes, end-stage renal disease or prior gastric surgery, and patients on mechanical ventilation are all at greater risk of bezoar formation, usually in the form of a phytobezoar or lactobezoar [3]. Trichobezoars, on the other hand, are generally found in young females who have some type of psychiatric disorder— usually trichotillomania (habit of plucking hair) and trichophagia (habit of eating hair)—although half of them deny such history [1]. Trichobezoars are believed to form when hair strands become entangled in the folds of the gastric mucosa, with their smooth and slippery surface preventing propulsion by peristalsis. As the strands grow in number, a hairball forms

that expands to fill the entire gastric cavity, assuming the shape of the stomach and causing gastric atony due to the mass effect [4, 5]. The gastric mucus covering the hairball gives it a shiny appearance. Because of decomposition and fermentation of food particles in the trichobezoar, the patient typically has foul-smelling breath [6]. Interestingly, trichobezoars are always black in color, regardless of the patient’s hair color, due to acidic denaturation of the hair proteins in the stomach [7, 8]. Rapunzel syndrome, originally described by Vaughan et al. in 1968, is defined as a rare type of trichobezoar in which long loops of hair from the stomach project into the small intestine [1]. Based on various descriptions, the tail of the trichobezoar may extend up to the jejunum, ileocecal junction, or even as distal as the transverse colon [2, 9]. The name ‘‘Rapunzel’’ has its origin in the fairy tale of a young princess who was shut in a tower having no doors or stairs, and who let down her long hair from the tower so that her lover could climb up to her [10].

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Presentation of Rapunzel syndrome is usually late, since there is a low index of suspicion given the rarity of the diagnosis, and patients may remain asymptomatic for many years until the bezoar has grown sufficiently in size to cause intestinal obstruction. The usual clinical features are palpable abdominal mass, abdominal pain, nausea and vomiting, weakness and weight loss, constipation or diarrhea, and hematemesis. Anemia is invariably present [2]. Various complications have been described, including ulceration or perforation of the stomach or intestine, small bowel intussusception, obstructive jaundice, and even pancreatitis due to obstruction at the ampulla of Vater [3, 11]. Upper GI endoscopy is the diagnostic modality of choice, and in cases of small bezoars, it is therapeutic as well. A contrast-enhanced CT scan usually confirms the diagnosis and delineates the extension of a trichobezoar. Other contrast studies have fallen out of favor these days due to the wide availability of CT scans. The role of ultrasonography in diagnosis is very small. In the present case, the patient presented with upper GI symptoms along with a smooth mobile lump in the upper abdomen. In view of her young age and the clinical findings, apart from a trichobezoar, the clinical possibilities considered were mesenteric cyst and choledochal cyst. The diagnosis of trichobezoar was confirmed on upper GI endoscopy. On CT scan, however, in addition to the presence of a trichobezoar in the stomach, extending into the duodenum and jejunum, a finding of ‘‘target lesions’’ or ‘‘bull’s eye signs’’ in the jejunum suggested a diagnosis of intussusception (Fig. 1c). The large size of the trichobezoar indicated that it was long-standing and had remained asymptomatic. The extension and migration of the tail of the bezoar into the jejunum may have served as the starting point for the telescoping of the proximal jejunum into the distal jejunum, leading to intussusception. This in turn may have led to acute intestinal obstruction that presented with abdominal pain and bilious vomiting of short duration. The occurrence of intussusception in cases of Rapunzel syndrome is very rare. In a review of 27 cases reported in 2007, only two noted the presence of intussusception [2]. These occurrences are usually reported in pediatric age groups, and thus may require multiple enterotomies for complete extraction of a long tail of hair [12–14]. In one such case of suspected intussusception preoperatively, on exploration, the entire trichobezoar was found to have migrated en bloc from the stomach to the terminal ileum, leading to ileal perforation. The tail of the trichobezoar was extending through the ileocecal valve up to the hepatic flexure, and the bezoar was extracted through the site of perforation [14]. Unlike our case of true intussusception, this was a case of a distal ileal mass due to a sealed perforation, which mimicked intussusception preoperatively. In one report of intussusception occurring with Rapunzel

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syndrome in an adolescent patient, removal of the long tail was possible through gastrotomy alone, as was observed in the present case [15]. However, in the earlier report, the diagnosis of intussusception was made only after exploration, unlike our case, where diagnosis was made on preoperative CT scan. Mortality has also been reported in unsuspected pediatric cases of Rapunzel syndrome, where diagnosis was made on autopsy [16]. Open surgical removal has been the mainstay of treatment for large bezoars in Rapunzel syndrome [17]. However, in cases with small bezoars, endoscopic fragmentation, gastric lavage, enzymatic therapy and laserignited mini-explosive techniques have been used successfully [18, 19]. Long-term psychiatric treatment is mandatory, along with follow-up endoscopy or contrast study, as the impulsive behavior associated with trichophagia in these patients is very hard to control, and the risk of recurrence is high [12]. The patient’s family members should also be counseled, as a history of family discord and neglect is often found. In conclusion, the diagnosis of Rapunzel syndrome requires a high index of clinical suspicion. Intussusception leading to small gut obstruction is a rare presentation in such cases. However, a diagnosis of intussusception can be made with an abdominal CT scan, and upon diagnosis, early surgical intervention is warranted in order to avoid morbidity and mortality. Disclosures Conflict of Interest: Sanjay Marwah, Siddharth Pandey, Abhishek Raj, Mahavir Singh and Himanshu Sharma declare that they have no conflict of interest. Human/Animal Rights: All procedures were followed in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Declaration of Helsinki of 1975, as revised in 2008(5). Informed Consent: Informed consent was obtained from all patients for inclusion in the study.

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14. Singh S, Wakhlu A, Pandey A, et al. Complicated Rapunzel syndrome mimicking intussusception. BMJ Case Reports. 2011;. doi:10.1136/bcr.08.2010.3277. 15. Prasanna BK, Sasikumar K, Gurunandan U, et al. Rapunzel syndrome: a rare presentation with multiple small intestinal intussusceptions. World J Gastrointest Surg. 2013;5:282–4. 16. Ventura DE, Herbella FA, Schettini ST, et al. Rapunzel syndrome with a fatal outcome in a neglected child. J Pediatr Surg. 2005;40:1665–7. 17. Gonuguntla V, Joshi DD. Rapunzel syndrome: a comprehensive review of an unusual case of trichobezoar. Clin Med Res. 2009;7:99–102. 18. Dumonceaux A, Michaud L, Bonnevalle M, et al. Trichobezoar in children and adolescent. Arch Paediatr. 1998;5:996–9. 19. Huang YC, Liu QS, Guo ZH, et al. The use of laser ignited miniexplosive technique in treating 100 cases of gastric bezoars. Chun Hua Nei Ko Tsa chih. 1994;33:172–4.

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Rapunzel syndrome presenting as jejuno-jejunal intussusception.

The term Rapunzel syndrome is used to describe a trichobezoar of the stomach with a long tail of hair extending into the duodenum and small intestine...
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