Background: Various terms have been used to describe vascular lesions in the intestine, including angiodysplasia, arteriovenous malformation, and telangiectasia. Such lesions are common in adults and are typified by angiodysplasia, a type of arteriovenous malformation. In contrast, these lesions are rarely seen in the pediatric population. Angiodysplasia may cause gastrointestinal bleeding, which is sometimes an indication for treatment. Considering the high rate of recurrence after surgical treatment, conservative treatments are mainly chosen. We herein report an extremely rare case of a prolapsed colon due to an arteriovenous malformation successfully treated by resection in a 1-year-old girl. We also highlight the differences between pediatric and adult cases. Case presentation: A girl developed bloody stools at 7 months of age. She visited another hospital at 1 year of age because of continuing moderate hematochezia and recent onset of rectal prolapse. Colonoscopy showed a protruding lesion located 15 cm from the anal verge, suggesting a submucosal vascular abnormality. Contrastenhanced computed tomography and magnetic resonance imaging at our hospital revealed the localized lesion with dilated blood vessels in part of the sigmoid colon; no other lesions were present in the gastrointestinal tract. Laparoscopic-assisted sigmoidectomy was performed. A subserosal vascular lesion was visualized and resected using end-to-end anastomosis. Pathologic examination of the 2.2 × 2.7-cm segment revealed several abnormally enlarged and ectatic blood vessels in the submucosa extending into the subserosa. The lesion was diagnosed as an arteriovenous malformation. The patient had a good clinical course without recurrence at the 2-year follow-up. Conclusions: An arteriovenous malformation in the sigmoid colon may rarely cause intussusception and prolapse of the colon. Complete resection is a radical and potentially effective treatment. Computed tomography and colonoscopy were useful for evaluation of the lesion in the present case.
Cartilage-hair hypoplasia is a rare metaphyseal chondrodysplasia characterized by diverse clinical manifestations and a high incidence of Hirschsprung disease. We present a male patient with cartilage-hair hypoplasia associated with severe intestinal obstruction. Genetic analysis of ribonuclease mitochondrial RNA-processing complex gene identified compound heterozygous mutations consisted with previously reported mutations: n.-14_3dupGAAGCTGAGGACGTGGT and n.183G > T. First, we considered that intestinal obstruction was due to an extensive type of Hirschsprung disease, but it was later confirmed as isolated hypoganglionosis. Isolated hypoganglionosis is rare and its therapeutic strategies are not well established. In cases of cartilage-hair hypoplasia associated with severe intestinal obstruction, the differential diagnosis of not only Hirschsprung disease, but also isolated hypoganglionosis, should be considered.
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