Rapunzel Syndrome in a 14-Year-Old Girl: A Case Report

 

 

Dr. Gamini Goonetilleke, FRCS & Dr. Ruwan Jayatunge, M.D., PhD

Introduction;

Trichobezoars are uncommon foreign bodies in the gastrointestinal tract, composed of swallowed hair. They are most often encountered in adolescent girls with trichotillomania and trichophagia (Naik et al.  2005).  When the hairball extends beyond the pylorus into the small intestine, the condition is termed Rapunzel syndrome, first described by Vaughan and team in 1968 (Gonuguntla & Joshi 2007). It is a rare and potentially life-threatening disorder, with fewer than 100 cases reported worldwide (Gorter et al.   2010). Trichobezoars are common in patients with underlying psychiatric disorders (Altonbary & Bahgat, 2015).

The development of this syndrome can be attributed to a combination of psychological, social, and biological factors. Individuals suffering from this condition often exhibit underlying mental health issues such as anxiety, depression, or obsessive-compulsive disorder, which may drive them to engage in hair-pulling or trichotillomania. The act of consuming hair can provide a temporary sense of relief or comfort, creating a cycle of behavior that is difficult to break. Additionally, environmental influences, such as stressors in personal or social life, can exacerbate these tendencies, leading to more severe manifestations of the syndrome. Biological factors, including genetic predispositions, may also play a role in the development of Rapunzel Syndrome, as certain individuals may be more susceptible to compulsive behaviors.

Although comprehensive epidemiological data specific to Sri Lanka are limited, we report a case of Rapunzel syndrome in a 14-year-old Sri Lankan girl that posed a significant diagnostic challenge.

 

Case Presentation

On 15th July 2008, a 14-year-old girl from a remote district in Sri Lanka was admitted to the surgical ward at Sri Jayewardenepura General Hospital, Nugegoda. She had been symptomatic for three months with recurrent upper abdominal pain, persistent vomiting, anorexia, and progressive weight loss. Prior consultations with general practitioners, district hospitals, and even a provincial general hospital—including abdominal CT scanning—had failed to establish a diagnosis.

On admission, she was pale, wasted, and dehydrated, though abdominal examination revealed no abnormality. Laboratory investigations confirmed anemia. Initial management included correction of dehydration and anemia. Gastroscopy revealed an obstruction at the gastric inlet, with visible strands of hair.

An exploratory laparotomy was performed. The stomach was markedly distended and filled with a firm intragastric mass. On opening the stomach, a large trichobezoar, conforming to the gastric cavity, was discovered, with a long hair tail extending into the duodenum and jejunum, consistent with Rapunzel syndrome. The entire bezoar was removed intact. The patient recovered well, with only a minor wound infection. Psychiatric counseling was arranged.

 

Discussion

Rapunzel syndrome is exceedingly rare. Trichobezoars usually present with vague abdominal pain, nausea, bloating, vomiting, and weight loss. Complications include gastric outlet obstruction, ulceration, perforation, pancreatitis, and rarely, death (Sharma et al. 2013). Because clinical features are nonspecific, diagnosis is often delayed, as in this case.

Endoscopy is the diagnostic modality of choice, allowing both visualization and sometimes removal of smaller bezoars. CT and ultrasound may assist, but their accuracy depends on awareness of the entity (Phillips et al., 2015). Large trichobezoars with intestinal extension almost always require laparotomy, as endoscopic or laparoscopic extraction is difficult.

Psychiatric evaluation is mandatory to address underlying trichotillomania or trichophagia and prevent recurrence. Long-term follow-up should include both surgical and psychological care.

The psychological management of Rapunzel Syndrome begins with a thorough psychological assessment to identify underlying mental health issues, such as anxiety or obsessive-compulsive disorder, which may contribute to the behavior. Cognitive-behavioral therapy (CBT) is often employed to help patients recognize and alter the thought patterns and behaviors associated with hair-pulling and ingestion. Additionally, supportive counseling can provide a safe space for individuals to express their feelings and experiences, fostering a sense of understanding and acceptance. In some cases, medication may be prescribed to address co-occurring disorders, thereby alleviating symptoms that exacerbate the compulsive behavior. Furthermore, involving family members in the treatment process can enhance support systems and improve outcomes, as they can learn to recognize triggers and provide encouragement.

 

Conclusion

This case illustrates the diagnostic challenge of Rapunzel syndrome, particularly in resource-limited settings. The persistence of nonspecific gastrointestinal symptoms in adolescents, particularly girls, should raise suspicion of trichobezoar. Early diagnosis with endoscopy and timely surgical intervention are crucial. Equally important is psychiatric management to prevent recurrence.

Effective health education can raise awareness about the risks associated with Rapunzel Syndrome. By promoting knowledge about the importance of mental health and providing resources for coping strategies, individuals can be better equipped to manage their urges and seek help when necessary. Educational initiatives can foster a supportive environment that encourages open discussions about body image and self-esteem, which are often underlying factors in hair-pulling behaviors. Ultimately, a comprehensive approach to health education not only aids in the prevention of Rapunzel Syndrome but also contributes to the overall well-being of individuals at risk.

  

References

Altonbary AY, Bahgat MH. Rapunzel syndrome. J Transl Int Med. 2015 Apr-Jun;3(2):79-81. doi: 10.1515/jtim-2015-0008. Epub 2015 Jun 30. PMID: 27847892; PMCID: PMC4936449.

American Psychiatric Association. Diagnostic and statistical manual of mental disorders. 5th ed (DSM-5) Arlington, VA: American Psychiatric Publishing; 2013.

Naik S, et al. Rapunzel syndrome: A case report and review. Med J Armed Forces India. 2005.

Gonuguntla V, Joshi DD. Rapunzel syndrome: A comprehensive review. MedGenMed. 2007.

Gorter RR, et al. Management of trichobezoar: Case report and literature review. Pediatr Surg Int. 2010.

Sharma V, et al. Rapunzel syndrome: A rare presentation. BMJ Case Rep. 2013.

Phillips MR, et al. Trichobezoar and Rapunzel syndrome in children and adolescents. J Pediatr Surg. 2015.