Hereditary medullary thyroid carcinoma (MTC) presents within the context of 3 genetic syndromes. Multiple endocrine neoplasia type 2A (MEN2A, Sipple’s syndrome) is an autosomal-dominant genetic syndrome that includes MTC, pheochromocytoma, and primary hyperparathyroidism (PHPT). MEN2B is an autosomal-dominant genetic syndrome that includes MTC, pheochromocytoma, multiple mucosal neuromas, and a...

A population-based, cross-sectional study was performed in southeast Norway, between January 2002 and February 2008, to identify subjects with hereditary ataxia and hereditary spastic paraplegia, and to estimate the prevalence of these disorders. Patients were recruited through colleagues, families, searches in computerized hospital archives and the National Patients' Association for Hereditary...

BACKGROUND Genetic epidemiological studies suggest both genetic and environmental factors have a role in multiple sclerosis (MS). Environmental effects are strongly suggested from geographical gradients, migration data, and discordance rates in twins. In epidemiological studies, risk of MS in offspring of small families and in those with an early birth-order position has been reported and inter...

During the past two decades, several new hereditary renal cancers have been discovered but are not yet widely known. Hereditary renal cancer syndromes can lead to multiple bilateral kidney tumors that occur at a younger age than that at which the nonhereditary renal cancers occur. The aim of our work is to review the features of hereditary renal cancers, the basic principles of genetic relevant...

TOPIC: Pediatrics TYPE: Fellow Case Reports INTRODUCTION: Hereditary multiple exostoses (HME) is a syndrome characterized by presence of two or more osteochondromas (exostoses) in the appendicular axial skeleton. Here, we present case an adolescent patient presenting with chest pain as only symptom intrathoracic exostosis leading to diagnosis HME. CASE PRESENTATION: A previously healthy 15-year...