Hereditary leiomyomatosis and renal cell cancer is a hereditary cancer syndrome in which affected individuals are at risk for cutaneous and uterine leiomyomas, and renal cancer. Previous reports have stressed the aggressiveness of the renal tumours, often with early metastasis, despite small primary tumour size. Almost all the previously reported patients were adults, and different studies showed variability in penetrance for the renal tumours. We report a patient in whom renal cancer was detected at the age of 11 years at his first routine screening imaging after he was found to carry a fumarate hydratase gene mutation (c.1189G > A) transmitted from his mother. This report serves to emphasize the need to improve guidelines for screening of at risk individuals, including the necessity for predictive genetic testing and early institution of tumour surveillance in childhood.
A 15-year-old girl, diagnosed with a partial right third nerve palsy, was found to have bilateral internal carotid artery agenesis. Neuroimaging with 3D-constructive interference in steady state scanning identified the possible etiology of the third nerve palsy as midbrain hypoplasia.
Abstract. Posterior segment anomalies are rare features of the oculoauriculovertebral complex. Our patient had hemifacial microsomia with an optic nerve hypoplasia in one eye and an optic nerve coloboma in the other eye. The optic nerve hypoplasia was ipsilateral to the side with hemifacial microsomia and microtia. J Pediatr Ophthalmol Strabismus 2004;41:238-240.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.