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Orolabial signs are important clues for diagnosis of the rare endocrine syndrome MEN 2B. Presentation of two unrelated cases

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Abstract

Multiple endocrine neoplasia syndromes (MEN) are genetic disorders with glandular hyperplasia and consecutive malignant neoplasia. MEN type 2B is the least common form of these tumor syndromes. It presents with typical dysmorphic features, mucosal neuromas, ganglioneuromatosis, medullary thyroid carcinoma (MTC) and phaeochromocytoma. The prognosis depends on the presence of MTC. We have surprisingly found two unrelated patients with this syndrome at our department within two weeks. In the medical history of a 17-year-old boy, Crohn’s disease had been considered because of abdominal pain and distention. He had marfanoid appearance and previously undergone minor surgeries for a large tongue with neuromas and hypertrophic gums. Two weeks later, a 10-year-old girl presented with a hard palpable mass on her neck. She had thickened lips, neuromas on the tongue and a solitary thyroid nodule. Genetic analysis was carried out in both patients and a heterozygous M918T mutation of the RET proto-oncogene was found. Laboratory tests and imaging studies were consistent with MTC. Phaeochromocytoma was not present. Both patients underwent total thyroidectomy and lymph node dissection. Histological examination confirmed the diagnosis of MTC. In conclusion, the initial diagnosis of MEN 2B should be suspected on the presence of typical facial/oral signs and gastrointestinal symptoms. Hormonal tests and imaging techniques of the thyroid and the adrenals can confirm the clinical diagnosis of MEN 2B and genetic analysis can prove its germline origin.

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Abbreviations

MEN:

multiple endocrine neoplasia

MTC:

medullary thyroid carcinoma

FMTC:

familial medullary thyroid carcinoma

RET:

rearranged during transfection

MIBG:

metaiodobenzylguanidine

CT:

computed tomography

MRI:

magnetic resonance imaging

PET:

positron emission tomography

TK:

tyrosine kinase

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Acknowledgments

We thank Professor Zsolt Tulassay DSc, László Vass MD, PhD, Andras Boér MD, Ilona Péter MD and Mária Krauszné Vaczula for their kind help and cooperation.

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Authors and Affiliations

  1. 2nd Department of Paediatrics, Faculty of Medicine, Semmelweis University, Tüzoltó u. 7–9, Budapest, 1094, Hungary

    Ágnes Sallai, Éva Hosszú & György Fekete

  2. 2nd Department of Medicine, Faculty of Medicine, Semmelweis University, Budapest, Hungary

    Péter Gergics & Károly Rácz

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  1. Ágnes Sallai
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  2. Éva Hosszú
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  3. Péter Gergics
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  4. Károly Rácz
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  5. György Fekete
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Correspondence to Ágnes Sallai.

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Sallai, Á., Hosszú, É., Gergics, P. et al. Orolabial signs are important clues for diagnosis of the rare endocrine syndrome MEN 2B. Presentation of two unrelated cases. Eur J Pediatr 167, 441–446 (2008). https://doi.org/10.1007/s00431-007-0532-x

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  • DOI: https://doi.org/10.1007/s00431-007-0532-x

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