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Early diagnosis and thyroidectomy in multiple endocrine neoplasia, type 2b
The Journal of Pediatrics
|February 1, 1983
Summary
Early diagnosis and total thyroidectomy are crucial for treating medullary thyroid carcinoma in multiple endocrine neoplasia, type 2b (MEN 2b). Prompt intervention before age 4 offers the best chance for cure in this aggressive cancer.
Area of Science:
- Endocrinology
- Pediatric Oncology
- Genetics
Background:
- Medullary thyroid carcinoma (MTC) is a key feature of multiple endocrine neoplasia, type 2b (MEN 2b).
- MEN 2b often arises from spontaneous mutations and may present with subtle early-life phenotypic features, delaying diagnosis.
Observation:
- MTC can metastasize early, potentially rendering treatment ineffective after age 4.
- Feeding difficulties, including poor suck and failure to thrive, were noted in seven of nine MEN 2b patients during the neonatal period.
- Characteristic MEN 2b features, such as ganglioneuromas, typically manifest before age three years.
Findings:
- Total thyroidectomy is the sole established treatment for MTC.
- Early thyroidectomy (e.g., at ages 2 and 2.5 years) in two patients resulted in no complications or metastatic disease.
- The timing of thyroidectomy is critical, balancing risks and benefits in young children.
Implications:
- Infants with feeding difficulties warrant periodic examination for early MEN 2b signs.
- Timely diagnosis and surgical intervention, ideally before age 4, are vital for improving MTC outcomes in MEN 2b.
- Increased awareness of early phenotypic markers can facilitate earlier diagnosis and treatment of MEN 2b.
