Pediatric Reports 2018; volume 10:7689

Rapunzel syndrome: how to to the presence of a tricobezoar: nausea and orient the diagnosis vomiting, epigastric/adominal pain, weight Correspondence: Enrico Finale, Pediatrics loss and anorexia, intestinal occlusion and Department, Castelli Hospital, Verbania, Via sub-occlusion3 and even death, in rare Fiume 18, 28922 Verbania, Italy. 1,2 Enrico Finale, cases.4,5 What is common to all cases is a Tel.: +39.0323.541333 - Fax: +39.0323.541334. Piergiorgio Franceschini,3 history of and trichophagia E-mail: [email protected] Cesare Danesino,4 in the patient, a condition which predispos- Key words: syndrome; diagnosis. Michelangelo Barbaglia,1 es the formation of the tricobezoar. 1 Andrea Guala Contributions: EF, PF, CD, AG: substantial con- 1Maternal-Child Department, ASL tributions to the conception and design of the Verbano-Cusio-Ossola; 2Pediatrics work; acquisition, analysis and interpretation of Department, Castelli Hospital, Case Report data; EF, MB, AG: drafting of the manuscript and revising it critically for important intellectu- Verbania; 3University of Turin; We present the case of a young girl with al content; EF, PF, MB, CD, AG: final approval 4 Department of Molecular Medicine, a clinical suspicion of ectodermal dysplasia of the version to be published; EF, PF, MB, CD, University of Pavia, Italy indicated during the course of a genetic AG: accountable for all aspects of the work and examination for patchy hair and nail bed declare that due care, diligence and all other req- dysplasia. The physical examination uisite investigations were carried out in the revealed dry thinning hair (Figures 1 and 2), preparation of the research to ensure its accuracy and integrity. Abstract short, dysplastic and slow-growing finger- nails, and decidual dentition, except for the Conflict of interest: the authors declare no poten- Rapunzel syndrome is a rare form of tri- medial upper incisors. The child had also tial conflict of interests. cobezoar with a tail extending from the always been on the lower end (10th centile) stomach into the small bowel; surgical of the growth curve, both underweight, as Funding: none. removal is generally required. About 60 well as in height. Notwithstanding the diag- cases have been reported and described in nostic suspicion, some of the expected Received for publication: 23 March 2018. the literature since 1968. We present the abnormalities were not present, such as the Accepted for publication: 24 June 2018. case of an 8-year-old girl who, during the inability to perspire, which however is not course of a genetic consultation, was initial- always altered, especially in females. In This work is licensed under a Creative ly assigned with a clinical suspicion of ecto- fact, the most frequent form of ectodermal Commons Attribution NonCommercial 4.0 License (CC BY-NC 4.0). dermal dysplasia. Surgical intervention, dysplasia is X-linked (about 80% of cases), which resulted in the extraction of a tricobe- thus females are healthy carriers, or in rare ©Copyright E. Finale et al., 2018 zoar of enormous size and extension, led us cases, manifest variable symptoms of the Licensee PAGEPress, Italy to the diagnosis of Rapunzel syndrome. The syndrome. The patient did not present acute Pediatric Reports 2018; 10:7689 possibility of a tricobezoar should be con- symptomatology and during the clinical doi:10.4081/pr.2018.7689 sidered in all cases of adolescent patients examination showed no obvious signs of who present signs of intestinal occlusion or serious psychiatric pathologies, or evident sub-occlusion, suffer from psychiatric dis- anxiety, depression or mood swings. A few orders, and have a history of trichotilloma- days after the genetic consultation, the folds and, escaping peristaltic propulsion, nia. Endoscopic methodology, medical patient was admitted to the hospital with continue to accumulate into a large mass, imaging and clinical diagnostics are funda- acute epigastric pain, nausea and vomiting. which then stimulates bradygastria in the mental for a differential diagnosis. Abdominal palpation detected a non-tender, stomach. Three conditions seem to be com- Psychiatric follow-up is advised to prevent compact and painful abdominal mass in the mon to all causes of Rapunzel syndrome: a recurrence. epigastrium which was confirmed by an trichobezoar with tail; extension of the tail ultrasound scan. Taken urgently into the at least to jejunum, ileum or colon, and 3,8 operating theatre, the patient underwent a symptoms of obstruction. Since publica- mini-laparotomy. When called into the tion of the first case in 1968, about 60 cases 9 Introduction operating room by the surgeons, we were have been reported in the literature. It shown an enormous tricobezoar weighing seems that females are more predisposed to 3,10 Rapunzel syndrome was described for 1kg and measuring 38×12,5 (Figure 3). The developing the pathology. 1 the first time in 1968 by Vaughan et al., patient was referred to a child psychiatrist. Differential diagnosis may prove diffi- and the name comes from the famous cult due to the transversal symptoms which Grimm Brothers’ fairy tale of a young 12- do not often or immediately lead to a diag- year-old girl, locked up in an inaccessible nosis of Rapunzel syndrome. Furthermore, tower, and the young prince who climbs up Discussion along with symptoms characteristic of an her long tresses in an attempt to save her.2 intestinal sub-occlusion or occlusion, the Rapunzel syndrome is a rare condition The formation of a is a very rare patient may also present gastric ulcers, that results following the formation of an event, in fact it is estimated that develop- intestinal perforation, diarrhea and, in some occluding tricobezoar in the gastrointestinal ment occurs in only 1% of those patients cases, vitamin B12 deficiency (due to the tract. suffering from trichophagia.6,7 The forma- bacterial colonization of the bezoar).11 The Symptoms are often not clearly identi- tion of a tricobezoar is due to the indi- gold standard for diagnosis is the use of fied with the syndrome. The following how- gestible composition of hair; the slippery diagnostic gastrointestinal endoscopy and ever, seem to be transversal and connected strands become entangled in the gastric imaging.11

[Pediatric Reports 2018; 10:7689] [page 37] Case Report

unusual cause of gastric perforation in Conclusions childhood: trichobezoar (Rapunzel syn- drome). A case report. Eur J Ped Rapunzel syndrome is extremely rare 2009;168:495-7. and difficult to diagnose. It should be sus- 5. Mohite PN, Gohil AB, Wala HB, Vaza pected in the presence of abdominal pain, MA. Rapunzel syndrome complicated vomiting and weight loss especially in ado- with gastric perforation diagnosed on lescents or in young women with a history operation table. J Gastrointestin Surg of psychiatric disorders (primarily trichotil- 2008;12:2240-2. lomania and trichofagia). Clinical and endo- 6. Phillips MR, Zaheer S, Drugas GT. scopic exams, along with diagnostic imag- Gastric trichobezoar: Case report and ing, are indispensable instruments for literature review. Mayo Clin Proc reaching a differential diagnosis and decid- 1998;73:653-6. ing on eventual treatment. Of fundamental 7. Irving PM, Kadirkamanathan SS, importance is psychiatric follow-up to pre- Priston AV, Blanshard C. Education and vent recurrence over time. imaging. Gastrointestinal: Rapunzel syndrome. J Gastroenterol Hepatol 2007;22:2361. Figure 1. Scalp with inhomogeneous distri- 8. Chauhan NS, Kumar S, Bhoil R. bution. References Rapunzel Syndrome: Rare “tale” of a broken “tail”. Pol J Radiol 2016;81: 1. Vaughan ED, Sawyers JL, Scott HW. 166-9. The Rapunzel syndrome. An unusual 9. Kim SC, Kim SH, Kim SJ. A case complication of intestinal bezoar. report: large trichobezoar causing Surgery 1968;63:339-43. Rapunzel Syndrome. Medicine 2. Grimm Brothers. Rapunzel. Translated 2016;95:e3745. by Godwin-Jones R. Richmond. 10. Sharma AK, Hussain A, Walia D, Virginia Commonwealth University: Bansal S. Trichobezoar and Rapunzel Department of Foreign Languages; syndrome: A review. Oncol 1994-1999. Gastroenterol Hepatol Rep 2015;4:28- 3. Naik S, Gupta V, Naik S, et al. Rapunzel 9. syndrome reviewed and redefined. Dig 11. Altonbary AY, Bahgat MH. Rapunzel Surg 2007;24:157-61. syndrome. J Transl Int Med 2015;3:79- 4. Koç O, YildIz FD, Narci A, Şen TA. An 81.

Figure 2. Rare scalp with damaged hair.

Figure 3. Trichobezoar: 38×12.5 weighing 1 kg.

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