The disease that has perpetuated the names of two prestigious European physicians, Eugen von Hippel and Arvid Lindau, is a familial syndrome characterised by the occurrence of highly vascular tumours in different organs1. Von Hippel-Lindau (VHL) disease is a rare, autosomal dominant genetic disease (Online Mendelian Inheritance in Man 193300) that is estimated to occur in 1/36,000 live births a...

The development of genetic testing has given patients with familial endocrine diseases the opportunity to be identified earlier in life. The importance of this technological advancement cannot be underestimated, as some of these heritable diseases have significant potential for malignancy. This article focuses on the identification and surgical management of familial endocrinopathies of the thy...

Sashank Prasad, MD Nicholas J. Volpe, MD Madhura A. Tamhankar, MD SECTION 1 A 36-year-old man with Von Hippel-Lindau syndrome presented with binocular vertical diplopia following suboccipital craniotomy for resection of a cerebellar hemangioblastoma. His diplopia was worse in left gaze. He was effectively treated with a 6-diopter base-down prism in the right eye. With-out spontaneous improvemen...

We read with interest the study published by Ferrer et al. about a patient with Lynch syndrome (LS) who presented a colorectal carcinoma (CRC) and a synchronous clear cell renal carcinoma (CCRC) (1). From our point of view, it would be interesting to emphasize some aspects of this patient, such as the type of mutation carried by the patient, and its cancer familial tree. In addition, we would l...

Porphyria cutanea tarda Gaucher's disease von Hippel-Lindau disease Huntington's chorea Polyposis coli Haemochromatosis 21-Hydroxylase deficiency Osteogenesis imperfecta (some forms) Cystic fibrosis Galactosaemia Multiple endocrine neoplasia Ila Sickle cell anaemia and a thalassaemia Acute intermittent porphyria Phenylketonuria (classic) Wilson's disease Retinoblastoma a,-Antitrypsin deficiency...