a 22 year-old woman presented with gradual visual loss in her right eye since 1990. medical and family histories were unremarkable. her visual acuity was 20/80 and 20/20 in right and left eyes respectively. slit lamp examination was quite normal with no relative afferent papillary defect.fundi of both eyes revealed subretinal lesion with optic nerve head involvement and subretinal fluid in papi...

We report on five Caucasian patients with congenital polycythemia and mutations of the von Hipple-Lindau (VHL) gene: a compound heterozygote for the novel exon 1 (VHL 235C->T) and previously reported VHL 562C->G mutations; three homozygotes for Chuvash VHL 598C->T mutation; and a heterozygote for VHL 523->G mutation who also has ataxia-telangiectasia; a rare autosomal disease of childhood onset.

BACKGROUND Cystic neoplasms of the pancreas comprise 10%-15% of pancreatic cystic lesions, with the serous cystadenoms being the commonest. The association of exocrine and endocrine tumours of the pancreas unrelated to Von Hipple Lindau disease is very rare. Very few cases have been reported in the literature. We present another case of both these tumours in one patient. CASE PRESENTATION A f...

Von Hippel-Lindau (VHL) disease is an autosomal dominant syndrome that, due to loss of tumor suppressor gene function, predisposes affected individuals to various benign and malignant tumors including renal cell cancer. In contrast, lymphomas are a varied group of clonal diseases arising from a lymphocyte progenitor and can affect any site of the lymphatic system. We present the case of a 56 ye...

we report an unusual case of a young male with cerebellar hemangioblastoma treated previously for medullary carcinoma of thyroid, whose pet/ct scans revealed a constellation of findings that suggested the rare von hippel lindau syndrome. the diagnosis was clinched by confirming the findings on whole body contrast enhanced computed tomography (cect) and contrast enhanced magnetic resonance imagi...

  We report an unusual case of a young male with cerebellar hemangioblastoma treated previously for medullary carcinoma of thyroid, whose PET/CT scans revealed a constellation of findings that suggested the rare Von Hippel Lindau syndrome. The diagnosis was clinched by confirming the findings on whole body contrast enhanced computed tomography (CECT) and contrast enha...