Rare presentation of familial paraganglioma without evidence of mutation in the SDH, RET and VHL genes: towards further genetic heterogeneity.

Objective: Mutations in genes encoding succinate dehydrogenase and its anchoring subunits (SDH genes) are at the origin of hereditary head and neck paraganglioma (PGL) and a subset of apparently sporadic pheochromocytoma.

Methods: We describe a family including three patients harbouring bilateral head and neck PGL diagnosed before 25 years of age. Multiple hypervascular hepatic lesions were subsequently discovered in two of them.

Cardiovascular risk assessment in hypertensive patients: major discrepancy according to ESH and SCORE strategies.

Background: The European Society of Hypertension (ESH) guidelines recommend two possible strategies for the assessment of cardiovascular risk (CVR) in essential hypertensive (HT) patients: categorical tables and SCORE risk charts. However, the outcome of these methods has not been compared.

Objective And Methods: We assessed CVR according to ESH and SCORE risk charts adapted to use in Belgium in 106 HT patients (mean age: 52.

Recent insights in the development of organ damage caused by hypertension.

Recent recommendations for the management of hypertension have stressed the importance of assessing subclinical target organ damage for the evaluation of cardiovascular risk, the choice of antihypertensive treatment and the follow-up of hypertensive patients. In addition to classic hallmarks of target organ damage (left ventricular hypertrophy, renal dysfunction, microalbuminuria), new concepts emerging from basic research and technical progresses have allowed more accurate and earlier detection of target organ damage affecting the heart (plasma BNP, coronary calcifications), the brain (silent lacunar infarcts, advanced deep white matter lesions, microbleedings) and the vasculature. The latter include markers of diffuse atherosclerosis (carotid intima-media thickness), arterial stiffness (pulse wave velocity, augmentation index) and endothelial dysfunction (increased plasma levels of adhesion molecules).

Severe hypoplasia of the abdominal aorta and its branches in a patient and his daughter.

We report the history of a patient and his daughter, both affected with hypoplasia of the abdominal aorta and its branches, leading to early and dramatic complications. In the index patient, renal ischaemia as a result of severe hypoplasia of the abdominal aorta and the origin of renal arteries led to progressive renal failure and end-stage renal disease at the age of 32 years. Other vascular abnormalities included hypoplasia of the celiac trunk (CT) and superior mesenteric artery (SMA).

Hereditary paraganglioma.

Head and neck paraganglioma is a rare tumour, especially in its familial form. We report a case of a multifocal head and neck paraganglioma in a young man with a family history of cervical tumours. At the age of 24, exploration of a left cervical swelling disclosed jugulotympanic and carotid body paragangliomas.