An incidental finding of Rapunzel syndrome in a case of perforated appendix in a young girl

Abstract

A bezoar is a mass of indigestible foreign material found in the gastrointestinal tract, usually in the stomach. Trichobezoars are the second most common bezoars which are usually found in young psychiatric patients.

A 15-year-old female patient presented with signs of intestinal obstruction and acute abdomen. The preoperative investigations revealed a perforated appendix, and an exploratory laparotomy was performed. Intraoperative findings showed presence of a mass of hair in the stomach along with a long tail extending into the small intestine. Postoperatively, the patient's condition worsened and she died because of complications of perforation peritonitis on day 3.

Early diagnosis of Rapunzel syndrome can help in making early interventions. The prognosis of incidental detection of this condition depends on the accompanying cause.

Introduction

Bezoars are collections of indigestible organic matter in the gastrointestinal tract. They can be formed from hair (trichobezoars) or from fibres of vegetables and fruits (phytobezoars) or a combination of the two. Almost half the patients of trichobezoars have a history of psychiatric illness.¹ The condition is usually associated with trichophagia (ingestion of hair). Rarely, when the trichobezoar in the stomach extends to the small intestine, the condition is called Rapunzel syndrome.²

We report a case of trichobezoar which was detected incidentally in a young girl who presented with a perforated appendix.

Case report

A 15-year-old female patient presented to the casualty with complaints of abdominal pain, vomiting and fever. She had initially complained of pain in the right iliac region, which later spread all over the abdomen. The patient was suffering from some psychiatric disorder, details of which were not available from the relatives. She was thin built and pale, but there were no obvious signs of malnutrition. On examination, the patient had tachycardia and hypotension. On palpation, she was found to have generalised tenderness all over the abdomen. Rebound tenderness was noted in the right iliac region. On investigation, she was found to have haemoglobin of 7 gm%, reactive neutrophilia (polymorphonuclear neutrophils: 87.7%) with a total leucocyte count of 23 × 10⁹ cells/L. Other haematological investigations and liver function tests were found to be normal. Radiograph of the abdomen showed gas under the diaphragm. Ultrasonography of the abdomen showed presence of perforation in the appendix.

The patient was shifted for emergency exploratory laparotomy and appendicectomy. On opening the abdomen, the surgeons found presence of pyoperitoneum. Interbowel pus flakes were present, and approximately one litre of pus was drained out.

Furthermore, there was evidence of perforation in the body of the appendix. Appendicectomy was performed. Intraoperatively, the surgeons also found that the stomach was distended and firm in consistency. An incision was given perpendicular to the long axis of the stomach 2 cm proximal to the pylorus to explore the cause of distension. A mass of hair was seen within the cavity of stomach extending up to the jejunum. The incision of gastrotomy was extended, and the mass of hair was gently pulled out until a large trichobezoar along with its tail was extracted (Fig. 1, Fig. 2). The gastrotomy was then closed. Patient/guardian consent was obtained for use of images in the study.

Fig. 1.

Intraoperative findings of mass of hair along with its long tail.

Fig. 2.

Completely extracted trichobezoar along with its tail.

The specimen of the mass of hair and perforated appendix was sent to the surgical pathology section. The mass of hair was in the shape of the stomach and measured 11 cm × 6 cm x 3 cm. It had a long tail extending into the small intestine. The foul smelling mass was brownish black in colour and consisted of fecoliths and rotten vegetable matter (Fig. 3). The specimen of appendicetomy measured 10 cm in length. It showed presence of a perforation 1 cm away from the tip. Microscopy showed presence of acute suppurative appendicitis (Fig. 4). Hair was not seen in the appendix on either gross or microscopic examination.

Fig. 3.

Specimen of trichobezoar showing brown to blackish mass of hair along with fecolith and rotten vegetables.

Fig. 4.

Microscopic view of perforated appendix showing inflammatory infiltrate and necrosis in the wall of the appendix with inflammation in the periappendiceal region (haematoxylin & eosin, 100X).

Postoperatively, the patient developed hypotension which could not be corrected even with ionotropes. Despite all resuscitative measures, the patient died on the third postoperative day.

Discussion

Bezoars are formed by the accumulation of non-absorbable food materials mostly consisting of fibres. Most bezoars in children are formed by swallowed hair from the scalp, dolls or brushes. Trichobezoars formed by hair follicles collect in mucosal folds and these grow in size. Trichotillomania is a psychiatric condition which involves the strong urge to pull one's hairs for pleasure and gratification. This disorder has been reported in girls and women aged younger than 30 years. The history of trichophagia is found only in half of the cases.³

The hairs get deposited day by day in the stomach and proteins of the hair follicles denature, get discoloured and turn black or brown in colour. It also emits an unpleasant odour.⁴ Usually, hair strands are retained in the gastric mucosa. Owing to repeated peristaltic movements, it becomes enmeshed until a ball is formed. Usually, it is too large to escape from the stomach. These hairs become matted together as a single mass along with undigested food material and assume the shape of the stomach.¹ The first case of bezoar was reported by Bendamant in 1779, while the first surgical removal was performed by Schouborn in 1883.⁵

Rapunzel syndrome is a closely associated condition where the hair ball is found in the stomach while its tail extends up to the small intestine causing intestinal obstruction similar to the findings in this case report. The term is derived from a fairy tale written in 1812 by the Grimm Brothers. The story is about a young maiden, Rapunzel, who had long tresses and lowered her hair to the ground from her home prison to allow a young prince to climb up her window and rescue her.⁶ Trichobezoar, usually, has a tail extending to the bowel which causes obstruction.⁷ The symptoms with which patients present can be abdominal pain (37%), nausea and vomiting (33%), abdominal distension, diarrhoea, anorexia, weight loss (7%) or abdominal mass. Most cases are detected incidentally with vague abdominal symptoms such as abdominal pain, distension, nausea and vomitting.^1,5 The various complications of trichobezoar include gastrointestinal obstruction (26%), bleeding (10%), perforation, nutritional deficiencies and malabsorption.⁸

The presence of appendicitis in a case of Rapunzel syndrome is very rare. Dogra et al. reported the presence of a microscopic hair shaft in the lumen of the appendix in an 8-year-young female with Rapunzel syndrome.⁹ In the present case trichobezoar with Rapunzel syndrome was found incidentally when the patient was opened up for laparotomy in view of her perforated appendix. Intraoperatively, the surgeons found presence of a mass of hair in the stomach along with a long tail extending up to the jejunum.

Neychev et al. reviewed 72 case reports of Rapunzel syndrome and reported that of all, three patients (4%) had died.¹⁰ Recurrence of Rapunzel syndrome was reported in five (7%) patients. Gorter et al. found different pathologies associated along with trichobezoars in four patients.¹¹ Two of these patients had gastric ulcer, one, reactive pancreatitis and the other presented with intussusception. Trichobezoars were removed by endoscopy in half their patients and by laparoscopy in the remaining. In their study, half of these patients had wound infection. Koulas et al. reported that of 23 patients treated, the surgical morbidity rate was 28%, whereas the endoscopic morbidity was 11%.¹² Mortality was 4% and 0% for the surgical and endoscopic groups, respectively, in their study.

The diagnosis of this condition is important. Upper gastrointestinal endoscopy is the gold standard for confirmation of diagnosis. It also enables therapeutic interventions. Another technique which is important is computed tomography (CT scan). The diagnostic accuracy of CT scan is reported to be 73–95%.¹³ Bezoars are traditionally managed by open surgical procedures (laparotomy). The standard treatment remains surgical intervention for large, symptomatic and complicated trichobezoars such as in Rapunzel syndrome. Minimally invasive surgical approach using laparoscopy is being advocated in the treatment of gastrointestinal bezoars.¹³ Antidepressant treatment helps to control obsession.

Conclusion

Early diagnosis of Rapunzel syndrome can help in making early interventions. The prognosis of incidental detection of this condition depends on the accompanying cause. In such cases, treatment should follow general lines of managing a perforation of viscus along with removal of bezoars by antral gastrotomy in addition to psychiatric treatment to avoid such consequences.

Disclosure of competing interest

The authors have none to declare.