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57th Annual Meeting of the German Society for Neuropathology and Neuroanatomy (DGNN)

German Society for Neuropathology and Neuroanatomy

12. - 15.09.2012, Erlangen

57th Annual Meeting of the German Society for Neuropathology and Neuroanatomy (DGNN)

Gastrointestinal dysmotility as initial symptom of RET mutation-associated MEN2B syndrome

Meeting Abstract

  • Udo Rolle - Department of Pediatric Surgery, Goethe University, Frankfurt, Germany
  • Stefan Gfrörer - Department of Pediatric Surgery, Goethe University, Frankfurt, Germany
  • Patrick N. Harter - Goethe University Frankfurt, Edinger Institute (Neurological Institute), Frankfurt, Germany
  • Klaus Müller - Goethe University Frankfurt, Edinger Institute (Neurological Institute), Frankfurt, Germany
  • presenting/speaker Michel Mittelbronn - Goethe University Frankfurt, Edinger Institute (Neurological Institute), Frankfurt, Germany

Deutsche Gesellschaft für Neuropathologie und Neuroanatomie. 57th Annual Meeting of the German Society for Neuropathology and Neuroanatomy (DGNN). Erlangen, 12.-15.09.2012. Düsseldorf: German Medical Science GMS Publishing House; 2012. Doc12dgnnPP1.9

DOI: 10.3205/12dgnn027, URN: urn:nbn:de:0183-12dgnn0278

Published: September 11, 2012

© 2012 Rolle et al.
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Outline

Text

The rare hereditary MEN2B syndrome is characterized by a mutation of the RET proto-oncogen and most frequently clinically associated with medullary thyroid carcinoma, pheochromocytoma and multiple neuromas. Herein, we report the case of a premature newborn girl who initially presented with gastrointestinal symptoms including constipation and vomiting. An intestinal malrotation or volvolus was excluded by a laparotomy. The pathological examination of a myenteric plexus biopsy revealed ganglionic cells but – in summary – inconclusive results on paraffin material. Since intestinal symptoms did not improve, a second mucosal and submucosal biopsy was performed, now unequivocally showing a hyperplastic submucosal plexus with giant ganglia containing more than 15 nerve cells per ganglion on kryo material leading to the neuropathological diagnosis of an intestinal ganglioneuromatosis. After the final diagnosis was made, we subsequently recommended a genetic analysis for RET mutation since MEN2B is also associated with intestinal ganglioneuromatosis. A heterozygous mutation of the RET proto-oncogen was detected in Codon 918. Since almost 100% of the patient suffering from MEN2B syndrome develop medullary thyroid carcinoma, a prophylactic bilateral thyroidectomy was performed. Although no thyroid symptoms were present to this date, pathological examination revealed small bilateral thyroid carcinomas without affection of the lymph nodes. In conclusion, our findings call the neuropathologist's attention to the intestinal ganglioneuromatosis being the first symptom of a RET mutation-associated MEN2B syndrome. A fast neuropathological followed by a genetical diagnostic set-up is necessary to prevent a MEN2B patient with predominantly intestinal symptoms from further, more severe MEN2B-associated complications, first of all, a metastatic medullary thyroid carcinoma.