Megacolon as the presenting feature of multiple endocrine neoplasia type 2B: a case report

Abstract

A 29-year-old Chinese man with good past health presented in October 2018 with acute abdominal pain and distension. On admission, he was afebrile and normotensive (blood pressure 116/79, pulse 74). Physical examination revealed a grossly distended abdomen with sluggish bowel sounds and mild diffuse tenderness but no guarding or rigidity. Preliminary blood tests showed leucocytosis (17.7 × 10 9 /L) and metabolic acidosis (pH 7.29, base excess-4.3). Markedly dilated large bowel loops were seen on radiograph. A flexible sigmoidoscopy performed to exclude sigmoid volvulus revealed no twisting point but was incomplete due to the presence of large amounts of stool. Urgent contrast computed tomography abdomen and pelvis showed that the entire length of the colon was grossly dilated up to 13 cm in diameter with loss of haustration and no obstructive mass, suggestive of megacolon. Several segments showed diminished mural enhancement. Bilateral avidly enhancing heterogeneous adrenal

Ganglioneuromatous polyposis associated with type 2 B multiple endocrine neoplasia (MEN 2B) – case report

“…MEN 2B patients may be asymptomatic or may present with mostly GI symptoms, such as abdominal pain, constipation or diarrhea, and may include ganglioneuromatosis [22]. A few cases of toxic megacolon have also been observed [10,27,28,29]. O'Riordain et al performed a study involving patients with MEN 2B syndrome in which 90% of participants had colonic disturbances, mostly constipation, and all of them had MTC [29].…”

Idiopathic Megacolon—Short Review

“…Usually in this team are present the gastroenterologist, who assists these patients for a long time, both by evaluation and non-surgical treatment, the radiologist who monitors colorectal morphological changes, possibly complications, the surgeon especially in the therapeutic solution of complications or in case of failure of drug treatment, as well as other related specialties, such as a dietitian, psychologist, etc. Despite the unspecified etiology, patients with megacolon have excessive laxity, hypomotility, and rectal sensory dysfunction when evaluating anorectal function, leading to difficult digestive transit [66][67][68][69][70].…”