Jejunal angiomatoses causing small bowel obstruction in a patient with Down syndrome: a case report.

T Patankar, S Prasad, A Joshi, H Deshmukh 
 Department of Radiology, Seth G.S. Medical College, Mumbai, India., India

Correspondence Address:
T Patankar
Department of Radiology, Seth G.S. Medical College, Mumbai, India.
India

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::   Introduction

Gut vascular anomalies are poorly defined and imperfectly understood complex, heterogeneous lesions, which are rarely encountered in clinical practice. In general, two types of benign vascular lesions exist which have characteristic histomorphology, natural history and therapeutic implications. They are haemangiomas, which constitute benign endothelial neoplasms and vascular malformations, which represent errors in morphogenesis[1]. Recognition of these two entities is of paramount importance as it has considerable therapeutic implications.

::   Case report

A thirty-year-old woman, a diagnosed case of Down syndrome presented with a two days history of acute abdominal pain. Clinical examination was unremarkable. Laboratory investigations were normal. Plain abdominal radiograph demonstrated dilated duodenum. Barium upper gastrointestinal series showed dilated duodenum and concentric luminal narrowing involving the duodenojejunal flexure and proximal jejunum [Figure:1].

Plain and contrast enhanced computerized tomographic (CT) scan of the abdomen demonstrated circumferential bowel wall thickening of the proximal jejunum, duodenal dilatation and collapsed distal small bowel loops [Figure:2]. Exploratory laparotomy showed long segment stricture involving the duodenojejunal flexure and the proximal jejunum. Resection of the involved segment and end-to-end bowel anastomosis was performed. Histopathological examination revealed ectatic, congested capillaries, and venules scattered throughout the entire wall of the bowel [Figure:3] thus confirming the diagnosis of a mixed capillary and venous vascular malformation. The patient made an uneventful recovery from the operation and was discharged on the fourth day.

::   Discussion

Gastrointestinal vascular anomalies are frequently asymptomatic[1],[2]. Symptomatic patients present with gastrointestinal bleeding, bowel obstruction and abdominal pain[2]. Infrequently encountered manifestations include diarrhoea, proteinlosing enteropathy, and highoutput congestive cardiac failure[1]. They may be associated with cutaneous and other musculoskeletal lesions.

Vascular malformations represent errors in vascular morphogenesis[1]. They are classified by the nature of predominant vascular channels within the lesion and rheologic characteristics into Pure Venous, Lymphaticovenous and Capillary-lymphaticovenous malformations[1]. Although all these lesions are congenital, they may manifest anytime during life and may be associated with the many syndromes. RenduOslerWeber syndrome is characterised by the classic triad of mucocutaneous/ visceral telangiectasias, repeated haemorrhages and familial occurrences[3],[4]. These vascular lesions bleed easily and may cause severe anaemia. Pure venous type of submucosal vascular malformation of the small intestine which give rise to chronic anaemia may be associated with the phenotype of bluerubberbleb syndrome[1]. KlippelTrenaunay syndrome[5] is associated with capillarylymphaticovenous malformation and limb overgrowth. Resection and Endoscopic / surgical or angiographic vasoobliteration constitute most appropriate therapy of these vascular lesions[1].

In contrast, haemangiomas are usually present at birth with a female preponderance (female to male ratio of 3:1). They constitute 7%10% of all benign tumours of the small bowel[4] and may be associated with Kasabach - Merritt syndrome and Mafucci’s syndrome. Kasabach  Merritt syndrome is characterized by haemangiomas, thrombocytopenia and a haemorrhagic diathesis which is cured following tumour resection[6],[4]. Mucocutaneous haemangiomas with enchondromas characterize Mafucci’s syndrome[1].

Haemangiomas present either as polypoid masses projecting into the lumen or as diffusely infiltrating lesions involving long segment of the gut[2]. Majority of lesions are manifest during the first two years of life and charter a benign course once they enter the involution phase. They may present with internal bleeding which may be massive and life threatening[4]. Angiogenesis inhibition pharmacologic therapy (using steroids, interferons) is the mainstay of treatment of haemangiomas[1].

Patients with Down syndrome have genetic predisposition to gut anomalies like oesophageal atresia, duodenal obstruction and Hirschsprung disease. 33% of infants with duodenal obstruction and 3%5% of infants with Hirschsprung disease have Down syndrome[7]. Majority of Down syndrome patients with these anomalies present in infancy[7]. We did not find mention of acute abdomen due to jejunal angiomatoses occurring in an adult patient with Down syndrome, in English literature. In conclusion, symptomatic gastrointestinal vascular anomalies are extremely uncommon. Vascular anomalies of the gut may occur in patients with Down syndrome and have to be considered in patients presenting with acute abdomen.

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