1/25. Primary ocular Epstein-Barr virus-associated non-Hodgkin's lymphoma in a patient with AIDS: a clinicopathologic report.OBJECTIVE: To report an unusual case of chronic multifocal chorioretinitis with vitritis in a patient with acquired immunodeficiency syndrome (AIDS) that was resistant to antiviral and antitoxoplasmic medication and required a retinal biopsy for definitive diagnosis. methods: Vitreous biopsy, pars plana vitrectomy, and retinal biopsy were performed. The vitreous biopsy material was sent for bacterial, fungal, and viral culture, and the vitreous cassette was sent for cytology. The retinal biopsy material was divided and sent for polymerase chain reaction testing for toxoplasmosis and virology and pathologic tissue analysis. RESULTS: Vitreous cytology showed a mixed population of lymphocytes and histiocytes, but all other microbiologic and virologic studies were negative. Tissue analysis revealed an infiltrate of atypical mononuclear cells extending from the inner limiting membrane through the outer plexiform layer characteristic of a B cell, non-Hodgkin's lymphoma of the central nervous system (NHL-CNS). in situ hybridization for the Epstein-Barr virus (EBV) was positive. An extensive systemic evaluation did not show evidence of extraocular tumor. CONCLUSION: Although rare, primary ocular NHL-CNS can be seen in patients with AIDS, and its clinical presentation often closely resembles other disorders. To our knowledge, this case represents the first ocular NHL in which EBV is shown to be associated.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
2/25. acquired immunodeficiency syndrome-related intraocular B-cell lymphoma.OBJECTIVES: To present the full clinical spectrum of the acquired immunodeficiency syndrome-related intraocular lymphoma as manifested in the eye, specifically retinal lymphoma associated with primary central nervous system lymphoma, isolated ocular lymphoma, and choroidal lymphoma associated with systemic lymphoma. methods: Three patients with acquired immunodeficiency syndrome were noted to have atypical retinal lesions. Diagnostic retinal biopsy in 2 patients and postmortem examination of the eyes in the third case were performed. RESULTS: Diagnostic retinal biopsy in the first 2 patients revealed retinal B-cell lymphoma. Initial systemic evaluation showed the eyes to be the sole site of disease. Later, in 1 of these patients, the lymphoma spread to the brain. The third patient developed an acute abdomen 4 months after the development of his ocular findings. The histological evaluation of the resected bowel revealed high-grade B-cell lymphoma. The patient died 1 week later and postmortem analysis of the eyes disclosed the presence of lymphoma in the choroid of both eyes. CONCLUSIONS: This is the most complete series of patients with acquired immunodeficiency syndrome-related intraocular B-cell lymphoma and, to our knowledge, provides the first 2 cases diagnosed by retinal biopsy. These 3 cases present the full clinical spectrum of the disease as manifested in the eye.- - - - - - - - - - ranking = 1.0317964087369keywords = central nervous system, nervous system, brain (Clic here for more details about this article) |
3/25. Primary intraocular lymphoma with a low interleukin 10 to interleukin 6 ratio and heterogeneous IgH gene rearrangement.Primary intraocular lymphoma is almost always a central nervous system B-cell non-Hodgkin lymphoma. Primary intraocular lymphoma is commonly diagnosed by demonstrating lymphoma cells in the vitreous or cerebrospinal fluid. An interleukin (IL) 10 to IL-6 ratio greater than 1.0 in these fluids and the detection of immunoglobulin gene rearrangement are useful adjuncts in the diagnosis of primary intraocular lymphoma. We report a case of primary intraocular lymphoma diagnosed by chorioretinal biopsy in which no malignant cells were identified in the vitreous and in which the IL-10 to IL-6 ratio was less than 1.0. The detection of IgH gene rearrangement heterogeneity in the tumor cells by polymerase chain reaction, a high tumor mitotic figure rate, and the rapid onset of multiple brain lesions suggest an aggressive malignant neoplasm.- - - - - - - - - - ranking = 1.0317964087369keywords = central nervous system, nervous system, brain (Clic here for more details about this article) |
4/25. 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 = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
5/25. Variations in the presentation of primary intraocular lymphoma: case reports and a review.Primary intraocular lymphoma is a distinct subset of primary non-Hodgkin's lymphoma of the central nervous system (CNS). Diagnosis can be difficult and is often delayed, as the clinical presentation can mimic a number of other ocular conditions. This report describes four different presentations of intraocular lymphoma and focuses on its modes of clinical presentation. Primary intraocular lymphoma can present with a wide variety of manifestations frequently mimicking diffuse uveitis that is refractory to corticosteroids. Subretinal pigment epithelium tumors may be seen. However, other presentations may include multiple deep white dots in the retina secondary to tumor infiltration; retinal infiltration, causing a necrotizing retinitis; or infiltration of the retinal vasculature, causing arterial or venous obstruction. Finally, optic nerve invasion may be seen. CNS lymphoma develops in the majority of patients before, in conjunction with, or after the development of eye disease. intraocular lymphoma often has a fatal outcome, but recognition of its modes of presentation facilitates early diagnosis and treatment that may improve prognosis.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
6/25. Trilateral retinoblastoma variant indicative of the relevance of the retinoblastoma tumor-suppressor pathway to medulloblastomas in humans.Results of recent studies have led investigators to suggest that the retinoblastoma tumor-suppressor (rb) gene plays an underappreciated role in the genesis of brain tumors. Such tumors cause significant rates of mortality in children suffering from hereditary retinoblastoma. It has been assumed that the pineal gland, which is ontogenetically related to the retina, accounts for the intracranial origin of these trilateral neoplasms. To address this issue, the authors describe an unusual trilateral retinoblastoma variant. The authors provide a detailed clinicopathological correlation by describing the case of a child with bilateral retinoblastoma who died of a medulloblastoma. The intraocular and intracranial neoplasms were characterized by performing detailed imaging, histopathological, and postmortem studies. karyotype analysis and fluorescence in situ hybridization were used to define the chromosomal defect carried by the patient and members of her family. An insertion of the q12.3q21.3 segment of chromosome 13 into chromosome 18 at band q23 was identified in members of the patient's family. This translocation was unbalanced in the proband. The intraocular and cerebellar neoplasms were found to be separate primary neoplasms. Furthermore, the pineal gland was normal and the cerebellar neoplasm arose within the vermis as a medulloblastoma. Finally, the two neoplasms had different and characteristically identifiable cytolological and immunohistochemical profiles. The findings of the present study, taken together with those of recent molecular and transgenic studies, support the emerging concept that rb inactivation is not restricted to central nervous system regions of photoreceptor lineage and that inactivation of this tumor suppressor pathway may be relevant to the determination of etiological factors leading to medulloblastoma in humans.- - - - - - - - - - ranking = 1.0317964087369keywords = central nervous system, nervous system, brain (Clic here for more details about this article) |
7/25. Trilateral retinoblastoma: a case report.Trilateral retinoblastoma is a rare, but well recognized syndrome. These tumors usually occur in the pineal, parasellar, or suprasellar regions several years after successful management of ocular retinoblastomas without evidence of direct extension or distant metastasis. Here we report a case of trilateral retinoblastoma presenting initially with a sellar tumor and with concurrent unilateral retinoblastoma. The patient was a 5-month-old baby girl showing poor eye contact and nystagmus for several days. She had no family history of retinoblastoma. brain MRI revealed a midline suprasellar tumor without evidence of cerebrospinal fluid seeding or extracranial metastasis. A pathologic diagnosis of retinoblastoma was made for her brain tumor, and a small, intraocular retinoblastoma was detected in the left eye by thorough examination of the fundus. If a retinoblastoma occurs in the midline of the brain, including the pineal and sellar regions, a careful screening to detect any additional retinal tumors should be performed. Moreover, since these tumors are often hereditary and harbor a worse prognosis, the diagnosis has implications for genetic counseling. This is the first report on a case of trilateral retinoblastoma in korea presented with a sellar mass.- - - - - - - - - - ranking = 0.063592817473772keywords = brain (Clic here for more details about this article) |
8/25. retinoblastoma metastatic to the ovary in a patient with waardenburg syndrome.PURPOSE: To report a child with retinoblastoma and waardenburg syndrome who developed ovarian metastases. DESIGN: Interventional case report. methods: Unilateral retinoblastoma was diagnosed in a 3-year-old girl with waardenburg syndrome and leukocoria in the right eye. The patient had a Reese-Ellsworth Group Va tumor and underwent enucleation. Two years later, she developed metastatic disease involving the bone marrow, right humerus, both supraorbital bones, and both tibias. She was treated with chemotherapy, orbital irradiation, and bone marrow transplant but returned 7 months later with back pain and urinary retention. RESULTS: Exploratory laparotomy revealed a right ovarian mass, and the excised ovary showed metastatic retinoblastoma. The child underwent chemotherapy and remained asymptomatic for 9 months, when brain metastases were diagnosed. She died within 2 days of admission. CONCLUSION: We believe that this is the first description of a patient with retinoblastoma and waardenburg syndrome and of an ovarian metastasis from retinoblastoma.- - - - - - - - - - ranking = 0.031796408736886keywords = brain (Clic here for more details about this article) |
9/25. Metastatic cutaneous melanoma to the vitreous cavity masquerading as intermediate uveitis.PURPOSE: To report a patient with metastatic cutaneous melanoma (MCM) presenting as intermediate uveitis. methods: We examined a 49-year-old man with malignant cutaneous melanoma and central nervous system (CNS) metastasis who was initially treated for bilateral intermediate uveitis. Biomicroscopic examination disclosed a normal anterior segment and vitreous organization with red blood cells (RBC) and some non-pigmented cells in both eyes. Funduscopy disclosed a retinal metastasis in the right eye, but vitreous organization precluded visualization of the retina in the left eye. RESULTS: The first diagnostic vitrectomy was negative for malignant cells in the left eye. However, progressive worsening of the condition persuaded us to repeat vitrectomy in the left eye and to do it in the right eye too. Vitreous samples were positive for malignant melanoma cells in both eyes. CONCLUSIONS: Metastatic cutaneous melanoma to the vitreous cavity is exceedingly rare and may masquerade as intermediate uveitis. It should be considered in the differential diagnosis of unusual uveitis and masquerade syndromes.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
10/25. von hippel-lindau disease type 2A in a family with a duplicated 21-base-pair in-frame insertion mutation in the VHL gene.BACKGROUND: von hippel-lindau disease (VHL), also called angiomatosis retinae, is inherited as an autosomal dominant trait. It is frequently associated with other tumors in the central nervous system, kidneys, or adrenal glands. In order to investigate the relationship between genotype and corresponding phenotypes, we performed molecular genetic analysis in a Japanese patient with VHL type 2A. methods: After informed consent had been obtained, the three exons of the VHL gene were PCR-amplified and sequenced either directly or after subcloning. Clinical features were also examined. RESULTS: A novel in-frame duplication of the 21 base pairs at nucleotide 806 (the position of codon 198) of the VHL gene was found in our patient. The clinical phenotype of the patient included retinal hemangiomas associated with vitreous hemorrhage and traction retinal detachment, pheochromocytoma, and hemangioma-like lesions in the cerebellum which corresponded to those of VHL type 2A. Abnormal diffuse vascular leakage was observed in the apparently intact retina by fluorescein angiography. CONCLUSION: An insertion mutation of the VHL gene is a rare association with VHL type 2. This insertion mutation may interfere the binding between the VHL gene and elongins. Abnormal retinal vascular leakage suggests the possible effects of overexpressed vascular permeability factors such as vascular endothelial growth factor from hemangiomas associated with defective VHL gene.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
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