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 Table of Contents  
ORIGINAL ARTICLE
Year : 2014  |  Volume : 4  |  Issue : 3  |  Page : 152-157

Rapunzel syndrome and its variants in pediatric patients: Our experience


1 Department of Pediatric Surgery, National Institute of Medical Sciences Medical College and University, Jaipur, India
2 Department of Pediatric Surgery, Sarder Patel Medical College, Bikaner, India
3 Department of Pediatric Surgery, Sawai ManSingh Medical College, Jaipur, Rajasthan, India

Date of Web Publication8-Dec-2014

Correspondence Address:
Dr. Rahul Gupta
202 A, A3 block, Kamal Apartment - 2, Banipark, Jaipur - 302 006, Rajasthan
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2278-9596.146417

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  Abstract 

Background: Rapunzel syndrome is an extremely rare form of trichobezoar extending from the stomach to the small intestine and sometimes even beyond the ileocecal valve. Approximately 50 cases of Rapunzel syndrome have been reported in the literature, and most of them being young women. The aim of this study was to review the clinical features and outcome of pediatric patients with Rapunzel syndrome.
Patients and Methods: We present a retrospective study performed from January 1995 to December 2013. The study included eight paediatric patients. The clinical features including history of trichophagia, intraoperative findings, bezoar characteristics and operative were analyzed.
Results: The age of patients ranged from 4 years to 15 years. Only one (12.5%) child was in teenage group, whereas the rest of the patients (87.5%) were below the teenage group. There were five (62.5%) females and three (37.5%) males. Patients had varied presentations like chronic abdominal pain (100%), abdominal distension (75%), epigastric fullness (75%), features of intestinal obstruction (50%), and anorexia (25%). Trichophagia could not be elicited in four patients (50%). Impending intestinal perforation and Intussusception was seen in one (12.5%) each. Six (75%) patients had trichobezoar, while plastobezoar (plastic bezoar) and mixed bezoar was present in one (12.5%) each.
Conclusions: Rapunzel syndrome is also seen in children below the teenage group. Although more common in females, it is seen in both sex. Chronic abdominal pain and distension are main presenting features, while history of trichophagia is absent in 50% cases. It should be included in the differential diagnosis in children, especially females with chronic abdominal pain, even if history of trichophagia is absent.

Keywords: Abdominal mass, mixed bezoar, plastobezoar, rapunzel syndrome, trichobezoar, trichophagia


How to cite this article:
Gupta R, Prabhakar G, Mathur P, Goyal RB, Sharma C, Ali MA. Rapunzel syndrome and its variants in pediatric patients: Our experience. Arch Int Surg 2014;4:152-7

How to cite this URL:
Gupta R, Prabhakar G, Mathur P, Goyal RB, Sharma C, Ali MA. Rapunzel syndrome and its variants in pediatric patients: Our experience. Arch Int Surg [serial online] 2014 [cited 2019 Jun 25];4:152-7. Available from: http://www.archintsurg.org/text.asp?2014/4/3/152/146417


  Introduction Top


Rapunzel syndrome is an extremely rare form of bezoar extending from stomach to small intestine and sometimes even beyond the ileo-cecal valve into the colon, resulting from trichophagia (impulsive pulling and intake). [1],[2] Rapunzel syndrome was originally described by Vaughan et al. in 1968. [3] The syndrome is named after the long-haired 12-year-old princess Rapunzel imprisoned by a witch in the castle, which was a tall prison tower with neither stairs nor doors for many years, in the charming German fairy tale written in 1812 by the two brothers, Jacob and Wilhelm Grimm. She lowered her long golden hair to the ground from the tower to permit her young prince to climb up to her window and rescue her. [3] They reported two cases of an obstructing trichobezoar located in the jejunum and tail-like extension to the ileo-cecal valve. Thus the syndrome got its name because the length of the hair and the extreme rarity of the medical condition were characteristic both of the clinical cases and of the fairy tale.

Rapunzel syndrome is an uncommon diagnosis in children with approximately 50 cases reported in the literature, and most of them were young women. [1],[2],[3] Though there is no strict definition of the syndrome, both the patients described by Vaughan et al had a trichobezoar with tail-like extension and symptoms of obstruction. [4] We present a series of eight pediatric cases with Rapunzel syndrome, including its variant and study the clinical features, with history of trichophagia, intraoperative findings, bezoar characteristics, and operative outcome.


  Patients and Methods Top


We present a retrospective study performed from January 1995 to December 2013. Clinical and operative records of eight pediatric cases with the diagnosis of Rapunzel syndrome were analyzed. Charts were reviewed according to age, sex, chief complaints, other associated complaints, presence of alopecia, psychiatric symptoms, history of trichophagia, presence of abdominal lump, method of diagnosis including gastroscopy or endoscopy, establishment of preoperative diagnosis, operative procedure, intraoperative findings, bezoar characteristics, postoperative morbidity and mortality, and also postoperative psychiatric referral.


  Results Top


Clinical features and operative records of pediatric patients with Rapunzel syndrome is summarized in [Table 1]. The age of patients ranged from 4 to 15 years, with mean age of 8.6 years. Only one (12.5%) child was in teenage group, while the rest of the patients (87.5%) were below the teenage group. There were five (62.5%) females and three (37.5%) males. Patients had varied presentations like chronic abdominal pain (100%), abdominal distension (75%), epigastric fullness (75%), features of intestinal obstruction (50%), and anorexia (25%). Patchy alopecia was marked in five (62.5%) cases. Two (25%) patients had neurodevelopment delay, while two (25%) were markedly disturbed emotionally. In spite of repeated enquiry of patients as well as their relatives, history of trichophagia could not be elicited in four (50%) patients. Abdominal lump was palpable in all (100%) cases. Preoperative diagnosis of trichobezoar was made in six (75%) cases, with an upper GI endoscopy in three (37.5%) cases, while three (37.5%) children were diagnosed with the help of ultrasonography. In two (25%) patients, laparotomy was performed without the preoperative diagnosis of bezoar, while the diagnosis of Rapunzel syndrome was made intraoperative in all the cases. Features of intestinal obstruction with dilated bowel loops were seen in three (37.5%) cases, including impending perforation in jejunum in one (12.5%) of them. Jejuno-jejunal intussusception with tail of phytobezoar acting as a lead point was present in another (12.5%) case.
Table 1: Clinical features, intraoperative findings, bezoar characteristics, and operative outcome of patients with Rapunzel syndrome

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Six (75%) patients had large dark foul smelling trichobezoar, seen in five (62.5%) females and one (12.5%) male [Figure 1], [Figure 2], [Figure 3], while one (12.5%) male patient had plastobezoar (plastic bezoar) and in other (12.5%) male, a mixed bezoar was present [Figure 3]. Bezoar was extracted through the gastrostomy in seven (87.5%) cases, while one (12.5%) had jejunotomy done at the site of impending perforation. The patient with plastobezoar underwent gastrostomy along with ileotomy for the purpose of extraction. Length of trichobezoar/phytobezoar ranged from 1 m to 3 me. In three (37.5%) patients, bezoar reached up to the ileum, including one reaching the terminal ileum. Mixed bezoar was a blend of carpet threads, woolen cloth fibers, cotton yarn, and hairs, whereas plastobezoar consisted of plastic fibers from plastic niwar (blends) of folding beds. In all patients, the bezoar had acquired the shape of the stomach, and there was a long tail extending at least into the jejunum. Seven (87.5%) patients had an uneventful postoperative course and were placed under psychiatric care. There was one (12.5%) mortality due to septicaemia. Recurrence was not seen in any of the cases.
Figure 1: (a) Intraoperative photograph of Case 1, stomach-shaped trichobezoar being extracted through the gastrostomy (b) Left – Intraoperative photograph of Case 1, trichobezoar having shape of stomach and the duodenum. Right – Specimen of Trichobezoar consistent with Rapunzel syndrome

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Figure 2: Top left – Intraoperative photograph of Case 2, trichobezoar being extracted through the enterotomy. Top center – Its shape is distorted due to intraoperative manipulation. Right – Trichobezoar specimen of Case 3. Bottom left – Photographs of Case 4 showing the stomach-shaped trichobezoar with its very long extension of the hair

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Figure 3: Left – Plastobezoar with shape of stomach and duodenum with its very long tail (Case 5). Right – Showing stomach-shaped trichobezoars with long extension of the hair (Case 6 and Case 7). Mixed bezoar consistent with Rapunzel syndrome (Case 8)

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  Discussion Top


Bezoars are tightly packed conglomeration of undigested materials like food, fiber or foreign material in the GI tract. The word is translated from the Arabic word "badzhe," the Persian word "padzhar" and the Hebrew word "beluzer" which all mean "antidote" or "counter poison". [2] Some societies have historically believed bezoars from animal guts had magical properties and used them as antidotes to certain poisons. [5],[6] Sushrutra and Charak first described bezoars in the second and third century BC. [5] The probable first reported case of bezoar in modern medicine was in 1779, when it was found during an autopsy of a patient who died from gastric perforation and peritonitis. [7] Bezoars are broadly classified as per their main constituent: Trichobezoar (hair), phytobezoar (vegetable/fruit fiber), lactobezoar (milk curd, especially in premature babies who consume concentrated formulas), pharmacobezoar (medicines, particularly with cellulose residue), and plastobezoar (plastic materials). A mixed bezoar is a blend of two or more constituents. Various other materials like foreign bodies, paper, tar, fungus, and sand have been seen. [1],[2],[3],[4],[5],[6]

About 90% of the cases of bezoar are seen in teenage girls and most of them present by the end of third decade of life as per the previous literature. [6] But in our study, 37.5% cases were male. As per previous studies, trichobezoar is seen almost exclusively in teenage females (between 10 and 19 years), while out of six patients with trichobezoar in our case, one was male. [6],[7],[8],[9] Also, it is extremely rare to find Rapunzel syndrome presenting in such a small age group. Five (62.5%) patients in our series were less than 10 years of age, while 3 (37.5%) were ≥10 years. There was only one (12.5%) child in teenage group.

Psychiatric disorder is usually seen in patients with bezoars, particularly with trichobezoar. [6],[7],[8],[9] Trichotillomania is a psychiatric disorder. [10],[11] It was first described in literature in 1889. [11] It is classified as an impulse control disorder according to The Diagnostic and Statistical Manual (DSM-IV). It is characterized by recurrent and impulsive one's own hair-pulling, for pleasure, gratification, or relief of tension, which causes a noticeable loss of hair, as seen in our 62.5% cases. [8] About 30% cases of trichotillomania have trichophagia (eating their hair, and items, such as doll or pet hair). Surgical removal is necessary only in 1% of the extreme cases of trichophagia, when large trichobezoar is formed and cause obstructive symptoms. [11] In half of the patients with trichobezoar a history of trichophagia is found. [11] Also, in our experience, only 50% patients gave history of trichophagia. Other than the psychiatric disorder, social factors predisposing to it include an unstable family, death of a near and dear, especially parents, depression, emotional disturbance, anorexia nervosa, marital stress, or any other type of extreme stress and neurodevelopment delay. [12] Trichobezoar may be associated with pica. [12] Trichobezoar is formed when hair are retained in the gastric folds stomach, escaping its peristaltic propulsion due to their smooth and slippery surface and eventually more and more hair accumulates and get enmeshed into a ball which usually assumes the shape of the stomach. [2],[4],[6],[7],[8],[9],[10],[11],[12] In very rare cases, there is contiguous extension of trichobezoar through the pylorus of the stomach to small intestine and sometimes even beyond the ileo-cecal valve into the colon, which is known as Rapunzel Syndrome. [4]

Naik et al in 2007 proposed a diagnostic criteria for Rapunzel Syndrome, (a) Trichobezoar with a tail and (b) Extension of this tail at least until the jejunum. [7] However, we propose that any bezoar, other than the trichobezoar with shape and characteristics similar to trichobezoar along with a tail, which is extending at least into the jejunum should be considered as a variant of Rapunzel syndrome. As plastic fibers, carpet threads, woolen and cotton fibers or any other similar material that are retained in the stomach due to their silky and slippery surface, more will gather together, trap and then, presentation would be similar to Rapunzel Syndrome. One of our patients had plastobezoar with its extremely long tail, and other had a mixed bezoar with all the other characteristics consistent with Rapunzel syndrome. Hence, we consider both of them as variants of Rapunzel Syndrome.

Fermentation and decomposition of trapped food often results in halitosis. [13] The typical color of trichobezoar is glistening black and is due to protein denaturation by hydrochloric acid and retained mucus. [13] Bezoar lead to various pathological changes in the stomach like chronic inflammation of mucosa, mucosal erosions, and ulceration due to pressure necrosis, gastric polyposis, protein-losing enteropathy and vitamin B12 deficiency due to loss of absorptive surface and bacterial overgrowth, and bleeding leading to iron deficiency anemia. [14] There may a long asymptomatic period in Rapunzel Syndrome. In early stages anorexia, malaise, nausea, weakness, weight loss, heartburn, and heaviness may be present. With gradual increase in size, vomiting, acute epigastric pain ensues. [2],[4],[6],[7],[8],[9],[10],[11],[12],[13] Patient may complain of chronic abdominal pain (seen in 100% cases in our study) or may seek medical opinion, when the bezoar becomes large enough to cause GI complications (particularly in Indian conditions) like hematemesis, intestinal obstruction, or a sudden peritonitis as seen in our cases. [7],[9],[10],[11] Intussusception was seen in one (12.5%) of our cases, whereas it has been observed in 7% of children with trichobezoar in the literature. [3] Jaundice and acute pancreatitis due to obstruction of the ampulla of Vater may occur. [15] Uncommonly, patients with trichobezoar may vomit or pass hair fragments in the stool.

Majority of cases of trichobezoar or Rapunzel syndrome present late. A high index of suspicion is essential. We should always evaluate for trichophagia, psychiatric disorder, and social factors as previously discussed and also examine for alopecia, which may reveal a characteristic pattern of bald patches on scalp. An upper abdominal scar may be a pointer to bezoar, as previous gastric surgery was identified as an associated predisposing factor in more than 50% of cases particularly truncal vagotomy plus pyloroplasty and subtotal distal gastrectomy or antrectomy. [2] A firm, non-tender, mobile mass was palpable in the upper abdomen in all our cases.

A mottled mass, out-lined by gas in the distended stomach, mimicking a food filled stomach is characteristic finding on a plain abdominal radiograph. An upper GI contrast study with delayed films reveals a large intraluminal filling defect with extension into the small bowel in case of Rapunzel syndrome. Sometimes mass may be floating in the suspension, which distinguishes it from a neoplasm. A classic "honeycomb" image is seen when barium becomes trapped in the interstices of the bezoar. [16] Ultrasound shows high gastric intraluminal echogenicity over a significant area with posterior acoustic shadow. [16] Plain abdominal computerised tomography (CT) is highly suggestive of trichobezoar. [17] Size, configuration, and location are best described and differentiate it from neoplasm. A typical CT shows trichobezoar as a ovoid intraluminal heterogeneous mass with air bubbles trapped within it. [18] In the Rapunzel syndrome, CT will show a hypodense lesion in the stomach with a mesh-like pattern and a hypodense tail in bowel. [19]

The primary goal of treatment of bezoars consists of its removal. Historically, surgical removal was first performed in 1883 by Schonbern. [10] An upper GI endoscopy though excellent in the diagnosis of all types of bezoars, but it is therapeutic in case of small bezoars only. Size, location, consistency, and the type of bezoar guide modality of treatment. Endoscopic therapy may be effective for phytobezoar and lactobezoar, as they are small in size, but is less likely to be effective for larger trichobezoar and Rapunzel syndrome. [20],[21],[22] In our series, out of three cases diagnosed by endoscopy, therapeutic attempt was not made during the procedure, owing to the large size of bezoar. During the removal of larger bezoars complications like pressure ulcers, esophagitis, and esophageal perforations have occurred. [20],[21],[22] Other methods used in some centers include bezotriptors that pulverize bezoars, bezotomes, extracorporeal shock wave lithotripsy, endoscopy with the use of laser ignition with mini-explosions. [23] Intragastric administration of enzymes, chemical substances (pancreatic lipase and cellulose), acetylcysteine and prokinetics (metoclopramide) are ineffective in trichobezoar. [20],[24]

Laparoscopy and laparoscopy-assisted removal may also be possible in smaller bezoars. [17],[25] But in very large-size trichobezoar, particularly in Rapunzel syndrome, it is extremely difficult but not impossible to remove it by this route at the present moment. Surgical exploration remains the main treatment option for removal in case of Rapunzel syndrome. Gastrostomy and enterotomy, single or multiple (if required) is performed. After removal, rest of the bowel should be examined for any perforation or for synchronous bezoar distally (not seen in any of our cases). [26] In our case, postoperative morbidity and mortality rate was lower (12.5%), as compared to the world literature (30%) published till date. [27]

Long-term psychiatric follow-up is important for prevention of recurrence. Although recurrence is rare as the trauma of surgery becomes an antidote to provocation of another episode, prevention of recurrence with psychiatric therapy must start in the perioperative period. Cognitive behavioral therapy, particularly habit-reversal training and parental counseling are part of the treatment. [28] The parents are advised to remain vigilant and give emotional support to the child to prevent recurrence. [29],[30] Selective serotonin reuptake inhibitors have the highest efficacy in the treatment of trichotillomania. [28]


  Conclusion Top


Rapunzel syndrome is also seen in children below the teenage group. Although more common in females, it is seen in both sexes. Chronic abdominal pain and distension, epigastric fullness, alopecia, and features of intestinal obstruction are main presenting features, whereas history of trichophagia is absent in 50% cases. It may present with surgical emergencies. Rapunzel syndrome is most often an intraoperative finding, though trichobezoar can be diagnosed on imaging. It should be included in the differential diagnosis in children, especially female patients with chronic abdominal pain, even if history of trichophagia is absent, to prevent complications such as perforation or bowel necrosis. Surgical removal is the main stay of treatment. All patients with Rapunzel syndrome should be referred for psychiatric evaluation postoperatively to avoid recurrence.

 
  References Top

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    Figures

  [Figure 1], [Figure 2], [Figure 3]
 
 
    Tables

  [Table 1]


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