We report the illness of a 32-year-old male with the syndrome of multiple endocrine neoplasia, type 2b, which comprises medullary carcinoma of the thyroid, phaeochromocytoma, oral mucosal neuromas and skeletal deformity. The patient also had evidence of ganglioneuromatosis of the alimentary tract, a finding which is held to be responsible for constipation and a number of the other gastrointestinal manifestations of the MEN, 2b. Dysphagia, which has not been previously reported in the syndrome was also present. Investigations of the oesophagus which included endoscopy, radiology and a motility study support the diagnosis of achalasia as the cause of the dysphagia.
Alimentary-tract ganglioneuromatosis. A major component of the syndrome of multiple endocrine neoplasia, type 2b
Mucosal neuroma, pheochromocytoma and medullary thyroid carcinoma: multiple endocrine neoplasia type 3
Prostaglandin secretion by medullary carcinoma of the thyroid. A possible cause of the associated idarrhoea
Multiple mucosal neuromata with endocrine tumours: a syndrome allied to von Recklinghausen's disease
Syndrome of bilateral pheochromocytoma, medullary thyroid carcinoma and multiple neuromas. A possible regulatory defect in the differentiation of chromaffin tissue
Premonitory symptoms preceding metastatic medullary thyroid cancer in MEN 2B: An exploratory analysis
C-Cell Neoplasia in Asymptomatic Carriers of RET Mutation in Extracellular Cysteine-Rich and Intracellular Tyrosine Kinase Domain
Intestinal ganglioneuromatosis: mucosal and transmural types. A clinicopathologic and immunohistochemical study of six cases
Altered vitamin D metabolism and bone remodelling in patients with medullary thyroid carcinoma and hypercalcitoninemia
Application of genetic screening information to the management of medullary thyroid carcinoma and multiple endocrine neoplasia type 2
Characteristics of chronic megacolon among patients diagnosed with multiple endocrine neoplasia type 2B
De novo multiple endocrine neoplasia type 2B with noncardiogenic pulmonary edema as the presenting symptom
Sporadic ganglioneuromatosis of esophagogastric junction in a patient with gastro-esophageal reflux disorder and intestinal metaplasia
Autoimmune Polyendocrine Syndromes
This feed focuses on a rare genetic condition called Autoimmune Polyendocrine Syndromes, which are characterized by autoantibodies against multiple endocrine organs. This can lead to Type I Diabetes.