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MEN2B syndrome - paediatric case report.
Iga Zendran1, Wojciech Szlasa1, Gabriela Bis1
1Faculty of Medicine, Wroclaw Medical University, Poland.
Pediatric Endocrinology, Diabetes, and Metabolism
|November 16, 2020
Summary
Multiple endocrine neoplasia 2B (MEN 2B), a rare genetic disorder, typically presents with medullary thyroid cancer and distinct physical features. This case highlights an atypical presentation, emphasizing the need for broader diagnostic considerations in rare endocrine syndromes.
Area of Science:
- Endocrinology
- Genetics
- Oncology
Background:
- Multiple Endocrine Neoplasia 2B (MEN 2B) is a rare genetic disorder caused by RET proto-oncogene mutations.
- Classic MEN 2B manifestations include early-onset medullary thyroid carcinoma (MTC), marfanoid habitus, mucosal neuromas, and potential pheochromocytoma.
- Accurate diagnosis is crucial for timely intervention and management of associated malignancies.
Observation:
- A 16-year-old female presented with an atypical MEN 2B phenotype.
- The patient lacked a family history of MTC and exhibited short stature instead of the typical marfanoid habitus.
- Uncommon ophthalmological manifestations were also noted in this patient.
Findings:
- The case underscores the variability in clinical presentation of MEN 2B.
- The patient's atypical features, including short stature and rare eye conditions, deviated from the classic MEN 2B syndrome.
- Genetic analysis confirmed the RET proto-oncogene mutation, validating the MEN 2B diagnosis despite atypicality.
Implications:
- This case emphasizes the importance of considering rare endocrine syndromes like MEN 2B in patients with unexplained symptoms, even without all typical signs.
- Diagnostic strategies should accommodate phenotypic variations to ensure timely diagnosis and management of potentially life-threatening conditions.
- Further research into the genotype-phenotype correlations in MEN 2B may improve diagnostic accuracy and patient outcomes.
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