An unusual case of Anasarca-Rapunzel syndrome

Abstract

Rapunzel syndrome is a rare form of gastric trichobezoar extending into the intestine, often associated with malnutrition and protein-losing enteropathy. A 12-year-old female presented with epigastric abdominal pain, facial puffiness, bilateral lower limb swelling, and anorexia. She was a known case of sickle-thalassemia double heterozygous state but had never received a blood transfusion. Family history revealed parental separation and harsh paternal behavior. The patient was undernourished but otherwise developed normally. On examination, she was lethargic, exhibited generalized anasarca, severe anemia, signs of congestive cardiac failure, and patchy hair loss on the scalp. Abdominal examination revealed moderate ascites, hepatosplenomegaly, and a firm, mobile, non-tender epigastric mass (10×8 cm), suggestive of gastric bezoar. Laboratory findings showed microcytic hypochromic anemia with macro-ovalocytes in the context of sickle-thalassemia heterozygosity. The child required multiple blood and serum albumin transfusions for severe anemia and hypoproteinemia with anasarca. Hepatic and renal causes of anasarca were excluded. Cardiovascular and respiratory systems were normal. Contrast enhanced computed tomography (CECT) abdomen confirmed the gastric bezoar. After stabilization, exploratory laparotomy and trichobezoar evacuation were performed. Psychiatric counseling and diversion therapy were provided. The child was discharged in stable condition, with follow-up showing significant improvement in nutritional status, mood, and general well-being. This case highlights the unusual presentation of Rapunzel syndrome with generalized anasarca in a pediatric patient with underlying sickle-thalassemia, emphasizing the importance of multidisciplinary management and follow-up.