Biomaterial Database

Multiple endocrine neoplasia (MEN) syndrome type IIB: gastrointestinal manifestations. 1983

T C Demos, and J Blonder, and W L Schey, and S S Braithwaite, and P L Goldstein

Multiple endocrine neoplasia syndrome IIB is an inherited autosomal dominant disorder with variable penetrance. Multiple organ systems are involved with a characteristic triad of medullary thyroid carcinoma, pheochromocytoma, and alimentary tract ganglioneuromas. Most patients have characteristic facies with patulous lips and thickened tarsal plates of the eyelids. The entire gastrointestinal tract can be involved from tongue to anus. Tongue nodules are common. Altered intestinal motility, dilation, diverticula, and mucosal abnormality may be seen radiographically. Gastrointestinal symptoms are common, may be the presenting manifestation of the syndrome early in life, and allow the radiologist to suggest the proper diagnosis. Five patients are described. All had megacolon.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D008531	Megacolon	Dilatation of the COLON, often to alarming dimensions. There are various types of megacolon including congenital megacolon in HIRSCHSPRUNG DISEASE, idiopathic megacolon in CONSTIPATION, and TOXIC MEGACOLON.	Megacolons
D009377	Multiple Endocrine Neoplasia	A group of autosomal dominant diseases characterized by the combined occurrence of tumors involving two or more ENDOCRINE GLANDS that secrete PEPTIDE HORMONES or AMINES. These neoplasias are often benign but can be malignant. They are classified by the endocrine glands involved and the degree of aggressiveness. The two major forms are MEN1 and MEN2 with gene mutations on CHROMOSOME 11 and CHROMOSOME 10, respectively.	Adenomatosis, Familial Endocrine,Endocrine Neoplasia, Multiple,Multiple Endocrine Neoplasia Syndrome,Neoplasia, Multiple Endocrine,Neoplasms, Multiple Endocrine,Adenomatosis, Multiple Endocrine,Familial Endocrine Adenomatosis,Multiple Endocrine Adenomatosis,Multiple Endocrine Adenopathy,Multiple Endocrine Neoplasia Syndromes,Multiple Endocrine Neoplasms,Adenomatoses, Familial Endocrine,Adenomatoses, Multiple Endocrine,Adenopathies, Multiple Endocrine,Adenopathy, Multiple Endocrine,Endocrine Adenomatoses, Familial,Endocrine Adenomatoses, Multiple,Endocrine Adenomatosis, Familial,Endocrine Adenomatosis, Multiple,Endocrine Adenopathies, Multiple,Endocrine Adenopathy, Multiple,Endocrine Neoplasms, Multiple,Familial Endocrine Adenomatoses,Multiple Endocrine Adenomatoses,Multiple Endocrine Adenopathies
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children
D003248	Constipation	Infrequent or difficult evacuation of FECES. These symptoms are associated with a variety of causes, including low DIETARY FIBER intake, emotional or nervous disturbances, systemic and structural disorders, drug-induced aggravation, and infections.	Colonic Inertia,Dyschezia
D003967	Diarrhea	An increased liquidity or decreased consistency of FECES, such as running stool. Fecal consistency is related to the ratio of water-holding capacity of insoluble solids to total water, rather than the amount of water present. Diarrhea is not hyperdefecation or increased fecal weight.	Diarrheas
D005729	Ganglioneuroma	A benign neoplasm that usually arises from the sympathetic trunk in the mediastinum. Histologic features include spindle cell proliferation (resembling a neurofibroma) and the presence of large ganglion cells. The tumor may present clinically with HORNER SYNDROME or diarrhea due to ectopic production of vasoactive intestinal peptide. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p966)	Gangliocytoma,Gangliocytomas,Ganglioneuromas
D005767	Gastrointestinal Diseases	Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM.	Cholera Infantum,Gastrointestinal Disorders,Functional Gastrointestinal Disorders,Gastrointestinal Disorders, Functional,Disease, Gastrointestinal,Diseases, Gastrointestinal,Functional Gastrointestinal Disorder,Gastrointestinal Disease,Gastrointestinal Disorder,Gastrointestinal Disorder, Functional
D005769	Gastrointestinal Motility	The motor activity of the GASTROINTESTINAL TRACT.	Intestinal Motility,Gastrointestinal Motilities,Intestinal Motilities,Motilities, Gastrointestinal,Motilities, Intestinal,Motility, Gastrointestinal,Motility, Intestinal