Rapunzel Syndrome in a 3-Year-Old Boy: A Menace too Early to Present.

Rapunzel syndrome is a rare type of trichobezoar with an extension of the hair into the small bowel. Clinical presentation is deceptive and vague, ranging from asymptomatic abdominal mass to gastrointestinal perforation. There are only few cases reported in literature, with the youngest age being 3 years. We present the case of a 3-year-old male child presenting with Rapunzel syndrome and features of subacute intestinal obstruction. Copyright:

INTRODUCTION

Trichobezoar, a hair ball in the proximal gastrointestinal tract (GI), is a rare condition almost exclusively seen in young females.[1] Gastric trichobezoars have been reported many times in literature as case reports and series, mostly as abdominal masses with or without the features of bowel obstruction. Rapunzel syndrome refers to a case of trichobezoar with extension at least up to the jejunum and causing intestinal obstruction.[2] Although the origin of the term comes from that of a fairy tale, it may be denoted as a hairy tail or rather a scary tail, given the frequent accompanying complications.[3] The common presentation of trichobezoar is in young females, usually with an underlying psychiatric disorder. Majority of the cases of trichobezoar present late, due to the low index of suspicion by the physician.[4] There are less than forty cases described in literature, with the prevention of recurrence aimed at psychological treatment. The youngest age of presentation for a child with Rapunzel syndrome has been 3 years in literature.[5] The child reported in the present case is probably only the second case of Rapunzel syndrome at 3 years of age presenting with subacute intestinal obstruction.

CASE REPORT

A 3- year-old male child presented with pain abdomen and visible abdominal mass [Figure 1] for the last 3 months. There was a history of pica in the form of habitual hair eating since the age of 1 year. There was a history of episodic pain abdomen associated with constipation and vomiting for the last 1 year. On examination, the child was conscious, irritable, and dehydrated. His vitals were as follows: pulse 96/min, blood pressure 100/60 mmHg, and SPO2 97% on room air. The child had a normal development with no significant antenatal or postnatal history. Pallor was present, but there was no icterus, cyanosis, or lymphadenopathy. On examination, the abdomen was distended, and a hard palpable lump was found in the epigastrium. The child was started on conservative management, and urgent ultrasonography (USG) abdomen was done. USG abdomen revealed a refractile echogenic structure with arc-like surface casting and posterior acoustic shadows in the epigastric region, likely suggestive of gastric bezoar. Hematological evaluation revealed hemoglobin of 7.4 g/dl, total leukocyte count of 16,800/mm3 (polymorphs 57%, lymphocytes 36%, monocytes 3% and eosinophills 4%), and platelet count of 813 × 1000/mm3. General blood picture showed moderate anisocytosis with normocytic normochromic red blood cells (RBCs) and thrombocytosis. Liver function tests, renal function tests, and other biochemical evaluations were unremarkable. Contrast-enhanced computed tomography (CECT) abdomen revealed a grossly dilated stomach with large, ovoid, well-defined, heterogeneous, non-enhancing lesion with air in the interstices in the lumen with contiguous extension into the duodenum and proximal jejunum, suggestive of bezoar. Multiple, smaller, similar ovoid as well as elongated well-defined heterogeneous attenuation-filling defects were also noted in the jejunal and ileal loops. The overall impression was a grossly dilated stomach with features suggestive of gastric and small-bowel bezoars. Upper GI endoscopy findings corresponded well with CECT findings. Two units of packed RBCs were transfused before the surgery was planned. Exploratory laparotomy with gastrotomy [Figure 2a] and removal of large trichobezoar with the tail extending beyond the duodenojejunal flexure [Figure 2b] was performed by a pediatric surgeon. Intraoperative and postoperative periods remained uneventful. At discharge, the child was feeding well and his bowel movements were normal. At 2-week follow-up, he was cheerful with normal diet and bowel habits and an unremarkable abdominal examination.

Figure 1

Visible abdominal mass (marked)

Figure 2

(a) Exploratory laparotomy with gastrostomy showing large abdominal mass. (b) Large trichobezoars taking the shape of the stomach with a large tail

DISCUSSION

Trichobezoar, a hair ball in the proximal GI, is a rare condition almost exclusively seen in young females. In most cases, the trichobezoar is confined within the stomach. However, in some cases, the trichobezoar extends through the pylorus into the jejunum, ileum, or even colon. Rapunzel syndrome, a gastric trichobezoar with a tail extending to the jejunum, ileum, or the ileocecal junction, was first described by Vaughan et al. in 1968.[6] The large quantity of hairs get matted together and assume the shape of stomach. Most commonly presenting as an abdominal mass with features suggestive of bowel obstruction, clinicians generally suspect malignant etiology until disproved on imaging. Most of the times, adolescent females with trichotillomania (desire to pluck one's own hair) and trichophagia (desire to ingest hair) are victims.[78] In our case, the presentation was at a very young age with hair extending down to the small bowel, causing symptoms. In the early stage, most trichobezoars may not be recognized due to their non-specific presentation or even lack of symptoms in the early stages. Rarely does one keep it as a differential diagnosis on clinical assessment alone because the history of trichophagia is seldom obtained unless specifically interrogated.[2] Of 131 collected cases of trichobezoar, a palpable abdominal mass was present in 87.7% of cases. Abdominal pain (70.2%), nausea and vomiting (64.9%), weakness and weight loss (38.1%), constipation or diarrhea (32%), and hematemesis (6.1%) were other common presentations.[4] The complications of Rapunzel syndrome range from attacks of incomplete pyloric obstruction to complete obstruction of the bowel to perforation to peritonitis and mortality.[9] Recently, literature indicate that trichobezoars could be the rare cause of jejunal intussusception, appendicitis, nephrotic syndrome, and biliary obstruction.[10] Endoscopy is diagnostic, in almost all cases, whereas ultrasound has not much to offer as a diagnostic tool. CT scan with contrast will delineate the extension of trichobezoar. Treatment options for gastric trichobezoars range from endoscopic removal, dissolution, and mechanical fragmentation with a hydrojet for smaller masses to surgical removal for bigger masses, causing discomfort and extending into the small bowel.[2]

CONCLUSION

Gastric trichobezoars are quite rare in children and can extend anywhere from the esophagus down till the ileocecal junction. Presentation can vary from asymptomatic masses to catastrophic perforations. It is essential to learn that, in the given clinical scenario, especially in a pediatric patient, ingested materials including hair should be carefully considered. As hair is indigestible, lack of consideration of the diagnosis could potentially delay lifesaving surgical intervention.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.