Searchable abstracts of presentations at key conferences in endocrinology

ea0064031 | A novel pathogenic mutation in neurofibromatosis type 1 | BES2019

A novel pathogenic mutation in neurofibromatosis type 1

Rebecca Fischler , Isabelle Vandernoot , Valerio Lucidi , Bernard Corvilain , Natacha Driessens

Introduction: Neurofibromatosis type 1 (NF1) is one of the most frequent genetic dominant syndrom in men with a prevalence of 1 in 2600 to 3000 individuals worldwide. NIH NF1 diagnostic criteria are driven by the most frequent manifestations of the disease (café au lait macules (CAL), neurofibromas, freckling, optic glioma, Lisch nodules and osseus lesions). There are many clinical manifestations of NF1 (neurological, cardiovascular, gastrointestinal, endocrine and orthop...

ea0063p812 | Adrenal and Neuroendocrine Tumours 3 | ECE2019

Robotic-assisted interaortocaval dissection of an extra-adrenal paraganglioma in supine position via a trans-peritoneal approach

Quackels Thierry , Albisinni Simone , Lucidi Valerio , Dessars Barbara , Driessens Natacha

Introduction: Pheochromocytoma and paraganglioma (PPGLs) are rare neuroendocrine tumors. Some of them are catecholamine-secreting tumors responsible for hypertension or adrenergic symptoms. Among 10% are malignant with a higher rate of malignancy in the inherited syndromes. Management of patients with hereditary pheochromocytoma and PPGLs is well defined and standard treatment is surgical resection.Case report: We report the case of a 53-year-old man who...

ea0063p819 | Adrenal and Neuroendocrine Tumours 3 | ECE2019

A novel pathogenic mutation in neurofibromatosis type 1

Fischler Rebecca , Vandernoot Isabelle , Brouckere Veronique de , Lucidi Valerio , Corvilain Bernard , Driessens Natacha

Introduction: Neurofibromatosis type 1 (NF1) is one of the most frequent genetic dominant syndrom in men with a prevalence of 1 in 2600 to 3000 individuals worldwide. NIH NF1 diagnostic criteria are driven by the most frequent manifestations of the disease (‘café au lait’ macules (CAL), neurofibromas, freckling, optic glioma, Lisch nodules and bone lesions). There are many clinical manifestations of NF1 (neurological, cardiovascular, gastrointestinal, endocrine ...

ea0071025 | A shining heart at Valentine's Day | BES2020

A shining heart at Valentine’s Day

Younes Azzagnuni , Sacha Regenberg , Valerio Lucidi , Michael Vouche , Bernard Corvilain , Natacha Driessens

Introduction: Primary adrenal lymphoma is rare, representing less than 1% of non-Hodgkin lymphomas.1 The clinical presentation is non-specific, symptoms of adrenal insufficiency may occur with bilateral lesions, and work up can be tricky.2Background: A 60-year-old man was admitted mid-January 2020 for acute left abdominal pain. He had no medical history and didn’t smoke or take any medication. He had no history of recent trauma...

ea0073aep31 | Adrenal and Cardiovascular Endocrinology | ECE2021

Unilateral extramedullary adrenal plasmocytoma: A case report

Bahar Nabila , Colard Martin , Vouche Michael , Lucidi Valerio , Bernard Corvilain , Driessens Natacha

We present the case of an octogenarian with a major history of lambda light chain myeloma which was treated by a first-line lenalidomide and dexamethasone from June 2018 to September 2019. Patient had also hypertension and valvular heart disease (mechanical valve and anticoagulation by acenocoumarol). In September 2019, a right adrenal mass was incidentally discovered by a renal ultrasonography made for acute kidney injury. The abdominal CT-scan confirmed the presence of a lar...

ea0037ep1214 | Clinical Cases–Pituitary/Adrenal | ECE2015

Aberrant expression of serotonin receptors in an aldosterone- and cortisol-producing adenoma

Lytrivi Maria , Brisbois Denis , Corvilain Bernard , Demetter Pieter , Garcia Camilo , Lucidi Valerio , Moreno-Reyes Rodrigo , Vudu Stella , Duparc Celine , Wils Julien , Lefebvre Herve , Louiset Estelle , Driessens Natacha

Introduction: Aberrant expression of serotonin receptors has been described to be involved in the pathophysiology of both aldosterone-producing and cortisol-producing adrenal adenomas.Case report: A 46-year-old woman was referred for evaluation of severe hypertension associated with hypokalaemia. Primary aldosteronism with concurrent subclinical Cushing’s syndrome was diagnosed. A CT-scan identified a lesion of 4 cm in the right adrenal gland and a ...