We report a three year follow up of a 35-year-old Indian gentleman who presented with sudden, painless blurring of left (L) eye vision with initial visual acuity (VA) of 6/60. Fundoscopy revealed (L) vitreous haemorrhage and subsequently confirmed a (L) inferotemporal capillary haemangioma. The adjacent area of capillary haemangioma was treated with barricade argon laser photocoagulation to prevent progression of exudative retinal detachment inferiorly. Subsequent follow up showed mild regression of capillary haemangioma with maintenance of (L) eye vision at 6/9.
Matched MeSH terms: von Hippel-Lindau Disease/diagnosis*; von Hippel-Lindau Disease/physiopathology
Pheochromocytoma is a rare catecholamine-secreting tumour typically arising within the adrenal medulla. It may occur sporadically or be associated as part of a tumour syndrome including Von Hippel Lindau (VHL), Multiple Endocrine Neoplasia (MEN) 2 and Neurofibromatosis Type 1. VHL is associated with multi-organ involvement of benign and malignant tumours characterized by the presence of retinal angiomas, hemangioblastomas of the cerebellum and spinal cord, renal cell carcinomas, pheochromocytomas and other cystic lesions in the kidneys, pancreas, and epididymis. It is a rare disorder with prevalence estimated at 2-3 per 100,000. This case report describes a 37 years old Chinese gentleman who presented to our institution for further management of bilateral pheochromocytoma and retinal angioblastoma with problems of duodenal ulcer and anaemia. There was no family history of similar problems. With these features the criteria for the diagnosis of von Hippel Lindau disease was established.
Matched MeSH terms: von Hippel-Lindau Disease/diagnosis*; von Hippel-Lindau Disease/surgery
A 39-year-old man was diagnosed with von Hippel-Lindau syndrome, which was associated with retinal haemangioblastoma, cervical cord haemangioblastoma and bilateral renal cell carcinoma. He subsequently underwent an arterial embolisation and cervical laminectomy, following a spinal angiogram of the cervical lesion. He also had a right radical nephrectomy, with no perioperative complications. However, on admission for the left radical nephrectomy, he was noted to have preoperative hypertension. Further investigation revealed an enlarged left adrenal gland on abdominal computed tomography scan and raised urinary catecholamines. We discuss the risk of renal cell carcinoma and phaeochromocytoma arising concomitantly in von Hippel-Lindau syndrome, and how best to investigate and manage them.
Matched MeSH terms: von Hippel-Lindau Disease/complications*
Renal cell carcinoma (RCC) is the one of the most common type of of cancer of the kidneys affecting adults. A 35- year-old man, with Von Hippel Lindau (VHL) syndrome was referred for bilateral renal mass in a follow up CT for evaluation. Open partial left nephrectomy was performed and the final histopathological report confirmed the diagnosis. One of the most important genetic and hereditary risk factor for RCC is Von Hippel-Lindau syndrome (VHL). RCC in VHL may occur bilaterally in some cases, so preserving renal parenchymal function is a major therapeutic goal and nephron sparing surgery provides a favorable patient outcome.
Von Hippel-Lindau (VHL) disease is a rare autosomal dominantly inherited multisystem disorder characterised by the development of a variety of benign and malignant tumours. We report a case of VHL disease that was inherited by a daughter from her father, who both presented at a young age with progressive headache and were found to have a posterior fossa haemangioblastoma (HB) on magnetic resonance imaging (MRI). Multiple benign pancreatic and renal cysts were also noted in both patients.
Von Hippel–Lindau (VHL) disease is a rare autosomal dominantly inherited multisystem disorder
characterised by the development of a variety of benign and malignant tumours. We report a case of
VHL disease that was inherited by a daughter from her father, who both presented at a young age
with progressive headache and were found to have a posterior fossa haemangioblastoma (HB) on
magnetic resonance imaging (MRI). Multiple benign pancreatic and renal cysts were also noted in
both patients.
We describe a rare tumor site in a 46 year old man who presented with a two week history of headache. Physical examination revealed bilateral papilloedema with no other localizing signs. Computed Tomographic Scan as well as Magnetic Resonance Imaging of the brain revealed a lesion with a dura tail located adjacent to the falx cerebri of the right frontal lobe. This lesion was not invading the inner table of the skull base. A tumor blush was seen on angiogram. There were no abnormalities on CT scan of the abdomen and fundoscopy was normal. Intraoperatively a vascular tumor not attached to the dura was noted and removed totally. Histopathological examination was typical of a hemangioblastoma. Analysis revealed no mutations of the VHL gene in 5 regions, exon 5-8 of the p53 gene, exon 1-2 of the p16 gene and exon 5,6 and 8 of the PTEN gene. This is the first case report of a supratentorial hemangioblastoma in a non-Von Hippel Lindau patient with genetic evidence.
A 21-year-old Chinese gentleman with no known medical illness, presented with a history of right painless blurring of vision with central scotoma of two weeks duration. He also had a history of multiple episodes of seizures prior to presentation. Visual acuity was 1/60 with unremarkable anterior segment findings and no relative afferent pupillary defect. Fundus examination of the right eye revealed dilated and tortuous retinal veins with multiple retinal capillary hemangiomas and sub retinal hard exudates at the macula with edema. A diagnosis of Von Hippel Lindau disease was made when a posterior fossa mass suggestive of hemangioblastoma with obstructive hydrocephalus was seen on computed tomography of the brain. Craniotomy with nodule excision was performed. The retinal capillary hemangiomas were treated with the combination of laser photocoagulation and intravitreal Ranibizumab injections. Visual acuity subsequently improved to 6/36.