title: [A familial case of multiple endocrine neoplasia (MEN IIb). Diagnosis of medullary thyroid cancer].
abstract: The familial observations of multiple endocrine neoplasia are rare such that there are only four known cases in France. In our family, two children and their mother are affected. Their mother, at the age of 16, was operated on a medullary thyroid cancer (MTC) and now presents with a phaeochromocytoma. Vanessa also presents with a MTC but without either phaeochromocytoma nor hyperparathyroidism. Her sister was then systematically screened and the only positive test was Pentagastrin. This allowed us to practice a thyroidectomy which will confirm the presence of a medullary thyroid cancer. In all three cases, the Marfan-like features, the abnormal facies and lingual neuromas are all features of the disease. These observations are of interest for the systemic familial screening of MTC by tumour markers (calcitonin, ACE) and by the Pentagastrin test, while awaiting for the use of specific probes on chromosome 10.
authors.affiliation: Service de Pédiatrie et Génétique Médicale, CHU Rangueil, Toulouse.
authors.forename: P
authors.initials: P
authors.lastname: Rochiccioli
authors.forename: M T
authors.initials: MT
authors.lastname: Tauber
authors.forename: C
authors.initials: C
authors.lastname: Pienkowski
mesh_terms: D002116:Calcitonin / Q000097:blood; D002277:Carcinoma / Q000175:diagnosis / Q000235:genetics*; D005145:Face / Q000002:abnormalities; D006801:Humans; D009377:Multiple Endocrine Neoplasia / Q000235:genetics*; D010673:Pheochromocytoma / Q000235:genetics; D013964:Thyroid Neoplasms / Q000175:diagnosis / Q000235:genetics*
chemical_list: D002116:Calcitonin
vernacular_title: Un cas familial de néoplasie endocrine multiple (NEM IIb). Intérêt du dépistage du cancer médullaire de la thyroïde.