Multiple Endocrine Neoplasia Type 2 Syndrome Presenting With Bowel Obstruction Caused by Intestinal Neuroma: Case Report

  title={Multiple Endocrine Neoplasia Type 2 Syndrome Presenting With Bowel Obstruction Caused by Intestinal Neuroma: Case Report},
  author={Maitreyi Prabhu and Rami N. Khouzam and Jonathan R Insel},
  journal={Southern Medical Journal},
We present the case of a 23-year-old male with a history since early childhood of lip and tongue mucosal neuromas. At the age of 19, he was diagnosed with both medullary thyroid carcinoma and pheochromocytoma within 1 year. These findings, with his marfanoid habitus, led to the diagnosis of multiple endocrine neoplasia type 2 (MEN 2B) syndrome. This was confirmed by a positive RET proto-oncogene. On this admission, he presented with an intestinal obstruction. Abdominal exploration revealed an… 

Early diagnosis of multiple endocrine neoplasia type 2B: a challenge for physicians.

The diagnosis of MEN2B is very important to allow appropriate investigation of associated diseases and to allow counseling and appropriate screening of relatives for a RET mutation.

Orolabial signs are important clues for diagnosis of the rare endocrine syndrome MEN 2B. Presentation of two unrelated cases

The initial diagnosis of MEN 2B should be suspected on the presence of typical facial/oral signs and gastrointestinal symptoms and hormonal tests and imaging techniques of the thyroid and the adrenals can confirm the clinical diagnosis.

Metastatic medullary carcinoma of the vulva in a patient with MEN IIb syndrome.

To the knowledge, this is the first case of vulvar metastasis as part of the MEN IIb syndrome, which is a clinical entity that may present multiple metastatic sites.

Soft-tissue lesions in children.

  • D. Oda
  • Medicine
    Oral and maxillofacial surgery clinics of North America
  • 2005

Neurocristopathies and Particular Associations with Hirschsprung's Disease.

Primitive neural cells migrate from the neural crest during embryogenesis to reach their target organs. They then undergo differentiation into melanocytes, adrenal medulla cells, C cells of the



Intestinal ganglioneuromatosis and multiple endocrine neoplasia type 2B: implications for treatment

Mutation analysis of exon 16 of the RETproto-oncogene revealed germline M918T and thus, a molecular diagnosis of multiple endocrine neoplasia type 2B (MEN 2B) and early recognition of intestinal ganglioneuromatosis with germlineRET M 918T mutation in pseudo-Hirschsprung’s disease is an indication for prophylactic thyroidectomy.

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

Gastrointestinal symptoms are common, may be the presenting manifestation of the syndrome early in life, and allow the radiologist to suggest the proper diagnosis.

Mucosal neuroma, pheochromocytoma and medullary thyroid carcinoma: multiple endocrine neoplasia type 3.

It is suggested that this syndrome be called multiple endocrine neoplasia type 3, following the classification originally proposed by Steiner et al, because MEN type 3 appears to be inherited as an autosomal dominant disorder.

Gastrointestinal Manifestations of Multiple Endocrine Neoplasia Type 2

Patients with MEN 2A-HD had a typical HD presentation and always required surgery, and patients with MEN2B have significant gastrointestinal symptoms, but less than a third had surgical intervention.

Alimentary-tract ganglioneuromatosis. A major component of the syndrome of multiple endocrine neoplasia, type 2b.

The alimentary manifestations warrant greater emphasis, not only because they were prominent in the patients whom the authors studied but also because in 14 patients, these manifestations were present before the endocrine neoplasms were detected.

Multiple endocrine neoplasia type 2B (mucosal neuroma syndrome, Wagenmann-Froboese syndrome).

The mutational spectrum of MEN 2B is remarkably narrow, with over 95% of cases being caused by a single methionine to threonine substitution in the intracellular tyrosine kinase domain.

C‐cell disease of the thyroid gland in multiple endocrine neoplasia, type 2B

In young patients suspected of having MEN 2b, prompt evaluation of C‐cell function by measurement of stimulated concentrations of iCT and treatment by total thyroidectomy if results are abnormal are recommended.

The ultrastructure of oral neuromas in multiple mucosal neuromas, pheochromocytoma, medullary thyroid carcinoma syndrome.

The ultrastructure of oral neuromas from 2 patients with multiple mucosal neuromas, pheochromocytoma, medullary thyroid carcinoma syndrome reveals numerous hypertrophic unmyelinated and myelinated