Progressive late-onset of cutaneous angiomatosis as possible sign of cerebral cavernous malformations.
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BACKGROUND: Cerebral cavernous malformations (CCM) comprise enlarged capillary cavities in the central nervous system, with possible retinal or cutaneous vascular malformations. This condition is associated with CCM1, CCM2, and CCM3 gene mutations. OBJECTIVE: Cutaneous clinical, histological and cerebral MRI findings, including CCM1, CCM2, and CCM3 gene sequencing, of two unrelated, neurological symptom-free patients who consulted for late-onset of deep multiple cutaneous angiomatoid lesions, are described. RESULTS: The diagnosis of multiple cutaneous angiomatosis was confirmed and related to CCM as detected by MRI in both cases. Analysis of our patients showed normal nucleotide sequences of the genes proposed. CONCLUSIONS: A progressive late-onset of multiple, deep cutaneous venous malformations may indicate the need to investigate a potential coexistence of CCM by MRI. Early diagnosis and prompt treatment is required in these patients. The absence of CCM1, CCM2, and CCM3 mutations might indicate that different genes could be involved in the pathogenesis of these late-onset patients. Careful questioning about family history of CCM is important; our first patient's daughter had a history of cerebral cavernoma. (+info)
Statistical analysis of the two stage mutation model in von Hippel-Lindau disease, and in sporadic cerebellar haemangioblastoma and renal cell carcinoma.
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Analysis of the age incidence curves for unilateral and bilateral retinoblastoma led Knudson to propose that hereditary tumours may arise by a single event and sporadic tumours by a two stage mutation process. It has been suggested recently that sporadic renal cell carcinoma may arise from a two stage mutation process. We analysed the age incidence curves for symptomatic renal cell carcinoma (n = 26) and cerebellar haemangioblastoma (n = 68) in 109 patients with von Hippel-Lindau (VHL) disease, and compared them to 104 patients with sporadic renal cell carcinoma and 43 patients with sporadic cerebellar haemangioblastoma. The age incidence curves for renal cell carcinoma and cerebellar haemangioblastoma in VHL disease were compatible with a single mutation model, whereas the age incidence curves for sporadic renal cell carcinoma and cerebellar haemangioblastoma suggested a two stage mutation process. These data are compatible with the VHL gene functioning as a recessive tumour suppressor gene. Sporadic cerebellar haemangioblastoma and some renal cell carcinoma may arise from somatic mutations inactivating both alleles at the VHL locus. (+info)
Carcinoid tumour of the common bile duct--a novel complication of von Hippel-Lindau syndrome.
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A 30 year old man with von Hippel-Lindau syndrome presented with obstructive jaundice caused by a carcinoid tumour of the mid- and upper common bile duct. This association is probably causally related in view of the propensity for patients with von Hippel-Lindau syndrome to develop neuroendocrine tumours. (+info)
Bacterial sepsis resulting in severe systemic illness and euthanasia in a dog with cutaneous angiomatosis.
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A Labrador retriever dog was euthanized after unsuccessful treatment for severe, progressive, lethargy, gastroenteritis, icterus, and swelling of a previously diagnosed cutaneous angiomatosis lesion. The body was submitted for necropsy. This is the first report that suggests that cutaneous angiomatosis lesions may have caused life-threatening systemic complications in a dog. (+info)
Clinical research utilizing the yellow, orange, and red wavelengths of the dye laser (Rhodamine 6G and MD-631) appears to have considerable promise and may demonstrate that the liquid organic dye laser is the laser of choice for photocoagulation of many types of ocular defects. The effectiveness of the dye laser as a photocoagulation source is due to the trans-spectral availability of relatively high output power wavelengths. Therefore, a target tissue can be selectively coagulated with minimal laser energy transmitted through the refractive media and minimal damage to nearby normal tissues. The dye laser, as a photocoagulation system, should prove valuable in the therapy of many ocular diseases. (+info)
Histological differentiation of metastatic renal carcinoma in the cerebellum from cerebellar haemangioblastoma in von Hippel-Lindau's disease.
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Two cases of von Hippel-Lindau's disease with special reference to the occurrence of renal carcinoma are presented. The first case demonstrates the difficulty of differentiating cerebellar haemangioblastoma from metastatic renal carcinoma affecting the cerebellum. The valuable differentiating histological features were positive staining of metastatic renal carcinoma by antiepithelial membrane antigen (anti-EMA) and the demonstration of a distinct pattern of packeting of cells by staining reticulin fibres. Staining with periodic acid Schiff and cytokeratin antibody (anti-CK) were not found to be useful. The second case exhibits the wide variety of neoplasms which may be present in von Hippel-Lindau's disease. Special stains support the findings of the first case. (+info)
Surgical treatment of Sturge-Weber syndrome--case report.
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It is well known that when Sturge-Weber syndrome manifests with seizures in early infancy, hemiparesis develops early, seizures become intractable, and motor weakness and mental retardation are progressive. In North America and Europe, early surgical intervention is recommended in such cases. However, neurosurgical management of Sturge-Weber syndrome has not been reported in Japan. The authors describe a 4-month-old boy with Sturge-Weber syndrome accompanied by intractable seizures who was successfully treated by a two-stage hemispherectomy. Two years postoperatively he remains free of seizures and is active, although his psychomotor development is moderately retarded. Surgical treatment of Sturge-Weber syndrome, including long-term results, is discussed in detail. (+info)