Pediatric Multiple Endocrine Neoplasia Clinical Presentation

Updated: Oct 11, 2017
  • Author: Alicia Diaz-Thomas, MD, MPH; Chief Editor: Robert P Hoffman, MD  more...
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Presentation

History

Type 1 MEN

Hyperparathyroidism is most common initial clinical manifestation of type 1 multiple endocrine neoplasia (MEN). [10] Some patients may manifest findings of ZES before they have hyperparathyroidism.

Symptoms of gastrinoma may become clinically apparent either with abdominal pain and diarrhea or with complications such as ulcer perforation or bleeding.

Type 2A MEN

All patients develop MTC on the basis of C-cell hyperplasia. About 50% of patients with MTC manifest pheochromocytomas (usually late in life), and 20% of patients have hyperparathyroidism.

Type 2B MEN

Pheochromocytomas occur earlier than in patients with type 2A MEN.

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Physical Examination

The clinical picture depends on the glands involved and the hormones secreted.

Type 1 MEN

Hyperparathyroidism occurs with mild hypercalcemia and bone abnormalities. Musculoskeletal symptoms have also been observed in adults but rarely in adolescents.

Gastrinoma causes diarrhea, abdominal pain due to peptic ulcer disease, and esophagitis. Insulinoma causes hypoglycemia.

Glucagonoma can cause hyperglycemia. Rare cases of type 1 MEN are associated with erythema, anemia, diarrhea, or venous thrombosis.

Pituitary tumors may cause headaches, visual field defects, and other effects (depending on hormone production).

Malignancy may be increased in other tissues. In one series, female patients with MEN1 were found to be at increased risk for breast cancer. Loss of menin expression and loss of heterozygosity at the MEN1 locus could provide clues to a mammary cell–menin interaction, possibly mediated through menin's local action on estrogen receptor beta. [11]

Type 2A MEN

MTC causes one or more firm nodules, which are often associated with enlarged cervical lymph nodes. Pheochromocytomas cause hypertension, sweating, palpitations and tachycardia, headache, emotional lability, nausea, vomiting, polyuria, and polydipsia.

Type 2B MEN

Marfanoid phenotype develops in all patients. Phenotypic characteristics include a slender body build; long and thin extremities; abnormal laxity of joints; and, in many cases, a high-arched palate, pectus excavatum, or pes cavus. The facies is characterized by thick, enlarged lips as a result of embedded mucosal neuromas.

Neuromas may be found on the surface of the lips, tongue, eyelids, and cornea. Ganglioneuromas may occur at any level of the GI tract, causing constipation or diarrhea due to abnormal control of intestinal motility. MTC may appear within the first year of life.

 

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