1/239. Neurofibromatosis type 2 with multiple primary brain tumors in monozygotic twins.BACKGROUND: Although monozygotic twins with neurofibromatosis complicated by brain tumors rarely have been reported, none of them fulfilled the diagnostic criteria for neurofibromatosis type 2 (NF2). METHOD: We describe here the first pair of monozygotic twins with NF2, and the result of the molecular analysis of their NF2 gene. RESULTS: One of the brothers (Case 1) developed tetraparesis and cerebellar truncal ataxia at age 12. He had no skin lesions. Radiological examinations revealed, at one time or another, bilateral vestibular schwannomas, a foramen magnum meningioma, five supratentorial meningiomas, and multiple spinal cord tumors. He underwent three operations over a 10-year period to remove tumors. The patient is now 23 years old and is in college. Although asymptomatic when examined at age 12, CT scan revealed that his brother (Case 2) also had multiple brain tumors, including meningiomas, schwannomas, and multiple spinal tumors. Tumors were removed in eight operations over a 10-year period. The patient is now deaf and confined to a wheelchair. An identical nonsense mutation caused by a C to T transition (C169) in a CpG dinucleotide of the NF2 gene was identified in both patients. CONCLUSION: These results led us to speculate that dissimilarities with respect to time of appearance, distribution, and extent of symptoms and tumors between the twins were dependent on the influence of other genetic factors.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
2/239. brain metastases from adenoendocrine carcinoma of the common bile duct: a case report.A 68-year-old man with metastatic brain tumors from adenoendocrine carcinoma of the common bile duct is reported. A common bile duct tumor and a metastatic liver tumor had been resected 6 years and 3 years prior to admission, respectively. Microscopically they showed two components; moderately differentiated tubular adenocarcinoma and neuroendocrine carcinoma. He presented with headache and vomiting and MRI revealed two metastatic brain tumors. They were successfully resected and radiotherapy was carried out. Histological diagnosis of the metastatic brain tumors was neuroendocrine carcinoma, but carbohydrate antigen (CA)-19-9 and carcinoembryonic antigen (CEA)-immunoreactive cells were observed without glandular pattern. Immunohistochemically serotonin and pancreatic polypeptide were detected, but somatostatin was not. As the endocrine cells demonstrated in the normal extrahepatic bile ducts are only somatostatin-containing D cells, these cells are considered to originate as part of a metaplastic process. To our knowledge, this represents the second case of adenoendocrine carcinoma of the common bile duct.- - - - - - - - - - ranking = 0.5keywords = brain (Clic here for more details about this article) |
3/239. patients with spinal cord cavernous malformations are at an increased risk for multiple neuraxis cavernous malformations.OBJECTIVE: To determine the prevalence of multiple neuraxis cavernous malformations in patients who initially presented with intramedullary spinal cord (IMSC) cavernous malformations without knowledge of cavernous malformations elsewhere in the neuraxis. methods: hospital records and radiographic files were analyzed for 17 patients who subsequently underwent surgical resection of an IMSC cavernous malformation (histologically proven) and also underwent brain magnetic resonance imaging studies. These 17 patients represented a subset of 32 patients who underwent surgical resection of an IMSC cavernous malformation during the same period. RESULTS: Of 17 patients, 8 (47%) harbored multiple cavernous malformations. This group was composed of five women and three men (mean age, 35.9 yr). There were four Caucasian and four Hispanic patients. CONCLUSION: The prevalence of multiple cavernous malformations in the neuraxis seems to be increased in patients who harbor IMSC cavernous malformations. This finding has important implications for the evaluation and management of these patients and, in some cases, their family members.- - - - - - - - - - ranking = 0.16666666666667keywords = brain (Clic here for more details about this article) |
4/239. Somatic mosaicism in von hippel-lindau disease.von Hippel-Lindau (VHL) disease is an autosomal dominant familial cancer syndrome predisposing to the development of retinal and central nervous system haemangioblastomas, pheochromocytomas, renal and pancreatic cancer. In the course of a molecular analysis conducted to detect germline mutations of this gene in von Hippel-Lindau patients and individuals affected by sporadic tumors, we have identified a case of somatic mosaicism in the asymptomatic mother of a VHL patient who was subsequently diagnosed with pheochromocytoma. This is the first report providing molecular evidence of somatic mosaicism in von hippel-lindau disease. mosaicism could provide some genetic explanation for the clinical heterogeneity and variable severity of the VHL phenotype, and should be considered, as a possible event when evaluating sporadic cases of VHL or patients with isolated VHL-related tumors. Hum Mutat 15:114, 2000.- - - - - - - - - - ranking = 0.58935241671866keywords = central nervous system, nervous system (Clic here for more details about this article) |
5/239. Spinal oligodendroglioma with gliomatosis in a child. Case report.The authors present a rare case of oligodendrogliomatosis in a child, which they believe originated from a primary spinal cord tumor. At 2.5 years of age this boy developed poor balance, neck stiffness, and a regression in developmental milestones. A computerized tomography (CT) scan of the head initially revealed ventriculomegaly and multiple cystic cerebellar lesions. In addition, magnetic resonance (MR) imaging revealed a cystic intramedullary lesion involving the cervical spinal cord. A CT scan of the head and an MR image obtained 3 years later demonstrated diffuse small cysts on the surface of the brainstem, cerebellum, medial temporal and inferior frontal cortices, subcortical white matter, and corpus callosum suggestive of leptomeningeal tumor spread. Analysis of pathological specimens obtained at surgery showed neoplastic glial cells with small, uniform nuclei and perinuclear clear zones. The cells appeared to migrate along the subpial space but no tumor cells were present in the subarachnoid space. These findings were compatible with a diagnosis of oligodendrogliomatosis cerebri. Despite having a complicated course, chemotherapy with carboplatin has provided the patient with long-term palliation and a high quality of life. This case may represent the fifth report in the literature of oligodendrogliomatosis occurring in a child but only the third occurring with a spinal primary tumor.- - - - - - - - - - ranking = 0.16666666666667keywords = brain (Clic here for more details about this article) |
6/239. Prenatal detection of cerebral lesions in a fetus with tuberous sclerosis.We report a newborn, diagnosed prenatally with both cardiac rhabdomyomas and a brain tumor. To the best of our knowledge, this is the first report of central nervous system (CNS) lesions detected prenatally in a child with tuberous sclerosis with term follow-up. At 36 months, the child has normal growth and is developing appropriately. Thus the finding of CNS tumors on fetal ultrasound examination can help in the prenatal diagnosis of tuberous sclerosis but does not necessarily indicate a poor prognosis.- - - - - - - - - - ranking = 0.75601908338533keywords = central nervous system, brain, nervous system (Clic here for more details about this article) |
7/239. A malignant rhabdoid tumor of the kidney occurring concurrently with a brain tumor: report of a case.Malignant rhabdoid tumor of the kidney (MRTK) is one of the most lethal neoplasms to occur in young infants. Cases of MRTK accompanying an embryonal tumor in the central nervous system have occasionally been described. We present herein an interesting case of MRTK that was clinically diagnosed preoperatively. A male infant aged 6 months with both a midline brain tumor and a renal neoplasm was transferred to our institution. Although roentgenographic evaluation suggested that the renal lesion was a Wilms' tumor, midkine (MK), a growth and differentiation factor characteristically present in the urine of patients with Wilms' tumor, was not detected. A preoperative diagnosis of MRTK was established based on the lack of urinary MK in addition to the typical clinical features of the young age and the concurrent brain tumor.- - - - - - - - - - ranking = 1.5893524167187keywords = central nervous system, brain, nervous system (Clic here for more details about this article) |
8/239. Neurocutaneous vascular hamartomas mimicking Cobb syndrome. Case report.The authors report the rare case of a patient with neurocutaneous vascular hamartomas mimicking Cobb syndrome. An 8-year-old boy was admitted to the authors' hospital with progressive urinary disturbance and upper back pain. Multiple skin nevi had been noted at the child's birth. Radiological examination revealed multiple cavernous angiomas in the spinal cord in the same metamere in which the skin nevi had been observed and also in the left cerebral hemisphere. His symptoms gradually improved without surgical intervention. Four years later he was readmitted because of a cerebral hemorrhage involving the left cerebral peduncle. Nonsurgical treatment was chosen because his symptoms promptly improved. To the best of the authors' knowledge, this is the first case of multiple cavernous angiomas in the brain and spinal cord associated with skin nevi. The authors discuss this clinical entity and the significance of the disease.- - - - - - - - - - ranking = 0.16666666666667keywords = brain (Clic here for more details about this article) |
9/239. Blue rubber bleb nevus syndrome.The blue rubber nevus syndrome consists of multiple venous malformations in the skin and gastrointestinal tract associated with intestinal hemorrhage and iron deficiency anemia. Other organs may be involved. The causes of this syndrome are unknown. Its most common presentation is in the form of sporadic cases, but dominant autosomal inheritance has been described. It is a condition that affects both sexes equally, and its occurrence is rare in the black race. We present a case of this syndrome diagnosed in a 11-year-old patient. He had severe anemia and a venous swelling on the trunk. Similar lesions were found in the stomach, bowel, and on his foot. We emphasize the main clinical aspects: intestine, eyes, nasopharynx, parotids, lungs, liver, spleen, heart, brain, pleura, peritoneum, pericardium, skeletal muscles, bladder, and penis lesions, systemic complications that may occur to these patients which are thrombosis and calcification, as well as consumptive coagulopathy and thrombocytopenia that may occur within the nevi.- - - - - - - - - - ranking = 0.16666666666667keywords = brain (Clic here for more details about this article) |
10/239. Angiotropic lymphoma: proliferation of B cells in the capillaries of cutaneous angiomas.We report a 52-year-old patient with cutaneous angiomas on the trunk in association with angiotropic lymphoma involving the nervous system. The lesional skin showed proliferation of atypical B cells in the capillaries. The diagnosis of angiotropic lymphoma with neurological deficits is often difficult before death. Thus, skin biopsy in this case proved to be diagnostic of the central nervous system disease without the risk of brain biopsy. The diagnosis of angiotropic lymphoma in the future may be achievable by biopsy of coincidental angiomas.- - - - - - - - - - ranking = 0.90551998119629keywords = central nervous system, brain, nervous system (Clic here for more details about this article) |
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