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Multiple endocrine neoplasia type IIb: a case report

S Jaruratanasirikul1, N Patarakijvanich, S Patrapinyokul

  • 1Department of Pediatrics, Faculty of Medicine, Prince of Songkla University, Hat Yai, Thailand.

Journal of the Medical Association of Thailand = Chotmaihet Thangphaet
|June 1, 1993
PubMed
Summary

This report details a rare pediatric case of Multiple Endocrine Neoplasia type IIb (MEN IIb), diagnosed in a 14-year-old boy with medullary thyroid carcinoma and mucosal neuromas, highlighting the need for early recognition.

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Area of Science:

  • Pediatric Endocrinology
  • Oncology
  • Genetics

Background:

  • Multiple Endocrine Neoplasia type IIb (MEN IIb) is a rare genetic disorder.
  • It is characterized by medullary thyroid carcinoma, pheochromocytoma, and mucosal neuromas.
  • MEN IIb has a high risk of malignancy and requires early diagnosis.

Observation:

  • A 14-year-old boy presented with a 4-year history of multiple thyroid nodules.
  • Physical examination revealed marfanoid habitus, coarse facies, thick lips, prominent jaw, and mucosal neuromas.
  • Thyroid scan showed multiple cold nodules, later confirmed as medullary thyroid carcinoma.

Findings:

  • Despite typical MEN IIb features, the patient was normotensive with normal 24-hour urinary vanillyl mandelic acid.
  • Adrenal glands appeared normal on computerized tomography.

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  • Diagnosis of MEN IIb was established based on phenotypic features, mucosal neuromas, and medullary thyroid carcinoma.
  • Implications:

    • This case underscores the importance of recognizing MEN IIb in children, even with atypical presentations.
    • Early identification of MEN IIb is crucial for timely intervention and improved patient outcomes.
    • Further research into pediatric MEN IIb is warranted due to its rarity and severity.