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Multiple endocrine syndrome type IIb in early childhood
N A Samaan1, M B Draznin, R E Halpin
1Section of Endocrinology, University of Texas M. D. Anderson Cancer Center, Houston 77030.
Cancer
|October 15, 1991
Summary
This case study presents the youngest patient diagnosed with Multiple Endocrine Neoplasia, type IIb (MEN2B). Early diagnosis and thyroidectomy in this infant prevented medullary thyroid carcinoma progression.
Area of Science:
- Pediatric Endocrinology
- Genetics and Rare Diseases
- Surgical Oncology
Background:
- Multiple Endocrine Neoplasia, type IIb (MEN2B) is a rare genetic disorder.
- MEN2B typically presents with medullary thyroid carcinoma, pheochromocytoma, and ganglioneuromas.
- Early diagnosis is crucial for effective management and improved patient outcomes.
Observation:
- A 3-week-old infant with club feet and failure to thrive presented with rectal neuromas.
- Elevated serum calcitonin levels and thickened corneal nerves at 3 months raised suspicion for MEN2B.
- This infant had no family history of MEN2B, making it a de novo case.
Findings:
- Rectal biopsy revealed neuromas, an indicator of MEN2B.
- High serum calcitonin levels, confirmed by pentagastrin stimulation, suggested C-cell hyperplasia.
- Histopathology post-thyroidectomy showed C-cell nodular hyperplasia and adenomatosis.
Implications:
- This case highlights the importance of early screening for MEN2B in infants with suggestive symptoms.
- Prompt surgical intervention, including thyroidectomy, can prevent the development of medullary thyroid carcinoma.
- Diagnosing MEN2B in the absence of a family history underscores the need for comprehensive genetic evaluation.