1/92. 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) |
2/92. Neuro-ophthalmologic manifestations of a paraneoplastic syndrome and testicular carcinoma.The authors report two patients with testicular cancer who exhibited supranuclear gaze disorders as a manifestation of a paraneoplastic brainstem encephalomyelitis. In the first patient, neuro-ophthalmic dysfunction was accompanied by a prominent limbic encephalitis whereas in the second patient, an unusual, mixed pendular and jerk nystagmus was manifested. neuroimaging revealed an enhancing hypothalamic mass in the first patient and was negative in the second. blood from both patients contained an antibody previously reported in a patient with limbic encephalitis and testicular cancer.- - - - - - - - - - ranking = 0.18163635609817keywords = brain (Clic here for more details about this article) |
3/92. The ocular manifestations of congenital infection: a study of the early effect and long-term outcome of maternally transmitted rubella and toxoplasmosis.PURPOSE: To study the spectrum of adverse ocular effects which result from maternally transmitted rubella and toxoplasma infection; further, to record the long-term visual and neurodevelopmental outcomes of these 2 major causes of fetal infection. STUDY DESIGN AND patients: A series of 55 patients with congenital infection have been studied prospectively on a long-term basis. The study group included a cohort of 34 cases with congenital rubella syndrome demonstrated by virus isolation, and 21 cases with a clinical diagnosis of congenital toxoplasmosis and serologic confirmation. All patients had specific disease-related ocular defects. Rubella patients were first identified during or following the last major rubella epidemic in 1963-1964, and some have been followed serially since that time. A separate study group of representative toxoplasmosis patients presented for examination and diagnosis at varying time periods between 1967 and 1991. OBSERVATIONS AND RESULTS: This study confirms that a broad spectrum of fetal injury may result from intrauterine infection and that both persistent and delayed-onset effects may continue or occur as late as 30 years after original infection. Many factors contribute to the varied outcome of prenatal infection, the 2 most important being the presence of maternal immunity during early gestation and the stage of gestation during which fetal exposure occurs in a nonimmune mother. RUBELLA: As a criteria of inclusion, all 34 rubella patients in this study exhibited one or more ocular defects at the time of birth or in the immediate neonatal period. Cataracts were present in 29 (85%) of the 34, of which 21 (63%) were bilateral. Microphthalmia, the next most frequent defect, was present in 28 (82%) of the 34 infants and was bilateral in 22 (65%). glaucoma was recorded in 11 cases (29%) and presented either as a transient occurrence with early cloudy cornea in microphthalmic eyes (4 patients), as the infantile type with progressive buphthalmos (1 patient), or as a later-onset, aphakic glaucoma many months or years following cataract aspiration in 11 eyes of 6 patients. Rubella retinopathy was present in the majority of patients, although an accurate estimate of its incidence or laterality was not possible because of the frequency of cataracts and nystagmus and the difficulty in obtaining adequate fundus examination. toxoplasmosis: Twenty-one patients with congenital toxoplasmosis have been examined and followed for varying time periods, 7 for 20 years or more. The major reason for initial examination was parental awareness of an ocular deviation. Twelve children (57%) presented between the ages of 3 months and 4 years with an initial diagnosis of strabismus, 9 of whom had minor complaints or were diagnosed as part of routine examinations. All cases in this study have had evidence of retinochoroiditis, the primary ocular pathology of congenital toxoplasmosis. Two patients had chronic and recurrent inflammation with progressive vitreal traction bands, retinal detachments, and bilateral blindness. Macular lesions were always associated with central vision loss; however, over a period of years visual acuity gradually improved in several patients. Individuals with more severe ocular involvement were also afflicted with the most extensive central nervous system deficits, which occurred following exposure during the earliest weeks of gestation. CONCLUSIONS: Although congenital infection due to rubella virus has been almost completely eradicated in the united states, the long-term survivors from the prevaccination period continue to experience major complications from their early ocular and cerebral defects. They may be afflicted by the persistence of virus in their affected organs and the development of late manifestations of their congenital infection. Congenital toxoplasmosis continues to be the source of major defects for 3,000 to 4,100 infants in the united states each year; the spectrum of defects is wide and may vary from blindness and severe mental retardation to minor retinochoroidal lesions of little consequence. Effective solutions for either the prevention or treatment of congenital toxoplasmosis have not been developed in this country but are under intensive and continuing investigation.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
4/92. Ophthalmic manifestation of congenital protein c deficiency.Under normal conditions activated protein C is a natural anticoagulant that cleaves 2 activated coagulation factors, factor va and factor viiia, thereby inhibiting the conversion of factor X to factor xa and of prothrombin to thrombin. Additionally, activated protein C enhances tissue-plasminogen activator-mediated fibrinolysis by inhibition of plasminogen activator inhibitor-1. This results in an increase in circulatory plasminogen activator levels. protein c deficiency, a genetic or acquired thrombophilic abnormality, has been demonstrated to predispose to episodes of potentially blinding and lethal thromboembolic events. Heterozygous-deficient subjects usually remain asymptomatic until adolescence or adulthood. In homozygous-deficient patients, protein C activity is usually less than 1% (reference range, 70%-140%), resulting in thromboembolism as early as in the neonatal period. The major clinical symptoms in affected newborn infants have been purpura fulminans, vitreous hemorrhage, and central nervous system thrombosis. The age of onset of the first symptoms has ranged from a few hours to 2 weeks after birth, usually after an uncomplicated full-term pregnancy and delivery. In contrast to the genetic form, acquired neonatal protein c deficiency occurs particularly in ill preterm babies. Typical complications of prematurity such as respiratory distress syndrome, necrotizing enterocolitis, and neonatal sepsis may also be present. In the medical literature, there are only a few reports of homozygous protein c deficiency in neonates. We present 2 cases of homozygous protein c deficiency with ocular and extraocular manifestation.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
5/92. A case in the spectrum of the oculo-encephalo-hepato-renal syndrome.An 18-year-old male is presented with unprecedented central nervous system findings (cerebral dysplasia and sacral meningocele) possibly in the spectrum of the oculo-encephalo-hepato-renal syndrome. He had severe mental retardation, triplegia, epilepsy, retinitis pigmentosa, and chronic renal failure. magnetic resonance imaging demonstrated cerebral dysplasia (left dominant abnormal gyri, hypoplastic white matter, basal ganglia, and thalamus, and absence of the septum pellucidum) and the hypoplastic cerebellum and brainstem. A sacral meningocele was observed first at 16 years of age. His renal function gradually worsened after 11 years of age. His liver function was normal. The previously reported 72 cases with the oculo-encephalo-hepato-renal syndrome are reviewed.- - - - - - - - - - ranking = 1.1816363560982keywords = central nervous system, nervous system, brain (Clic here for more details about this article) |
6/92. Ocular histopathologic study of a patient with the T 8993-G point mutation in Leigh's syndrome.OBJECTIVE: To report the histopathologic findings of eyes from a patient with Leigh's syndrome associated with the T 8993-G point mutation in mitochondrial dna (mtDNA). DESIGN: Case report. INTERVENTION: A child with hypotonia, developmental delay, persistent lactic acidosis, seizures, and ataxia died of aspiration pneumonia at 15 months of age. Analysis of dna isolated from blood was positive for the T to G point mutation at position 8993 in mtDNA, and the proportion of mutant genomes was estimated at approximately 95%. The type and distribution of abnormalities seen in the brain at autopsy were consistent with those in patients with Leigh's syndrome. MAIN OUTCOME MEASURES: The left eye was examined by light microscopy, and segments of the right eye were examined by transmission electron microscopy. Genetic analysis on dna isolated from blood was performed. RESULTS: Thinning of the nerve fiber and ganglion cell layers was present in the nasal aspect of the macula, and mild atrophy of the temporal aspect of the optic nerve head and optic nerve was present. Electron microscopic study disclosed numerous distended mitochondria in all cells, but particularly in the retinal pigment epithelium, nonpigmented ciliary epithelium, and corneal endothelium. CONCLUSION: This is a report of the ocular histopathologic findings in Leigh's syndrome with the T 8993-G point mutation. The light microscopic findings were similar to those of patients with similar features reported previously. In addition, ultrastructural abnormalities of mitochondria were present.- - - - - - - - - - ranking = 0.18163635609817keywords = brain (Clic here for more details about this article) |
7/92. phenotype of a patient with pure partial trisomy 2p(p23-->pter).We present the case of a 7-month-old girl with the karyotype 46,XX, der(13) t(2;13)(p23;p11.2).ish der(13)(wcp2 ) de novo. Painting confirmed that the additional segment on 13p was of chromosome 2 origin, resulting in trisomy 2p23 -->2pter. The child had a prominent forehead with a flat hemangioma, depressed nasal bridge, protruding tongue, posteriorly angulated ears, esotropia with poor abduction of the right eye, bilateral severe myopia (-5.5 D), retinal hypopigmentation, foveal hypoplasia, and striking left optic nerve hypoplasia. She also had pectus excavatum, a protruding abdomen with diastasis recti, generalized hypotonia, delayed fine and gross motor development, grade II reflux on the left side, and grade III-IV reflux on the right side. An EEG showed epileptiform discharges. Computed tomographic scan of the brain showed decreased white matter, but magnetic resonance imaging showed normal results.- - - - - - - - - - ranking = 0.18163635609817keywords = brain (Clic here for more details about this article) |
8/92. Encephalocraniocutaneous lipomatosis (Fishman syndrome): a rare neurocutaneous syndrome.Encephalocraniocutaneous lipomatosis (ECCL) is a rare congenital neurocutaneous syndrome comprising unilateral cranial lipomas, lipodermoids of the eye and brain abnormalities. A 3-year-old boy who presented at birth with a scalp lipoma and an ipsilateral epibulbar lipodermoid is described. Infantile spasms developed at 9 months of age and cerebral imaging showed thickened and calcified cortex at the right occiput and hemiatrophy of the right hemisphere. These features were consistent with ECCL. Most children with ECCL have significant developmental delay, but we have found that control of seizures was associated with a significant improvement in developmental outcome.- - - - - - - - - - ranking = 0.18163635609817keywords = brain (Clic here for more details about this article) |
9/92. Neuro-ophthalmic manifestations of sarcoidosis: clinical spectrum, evaluation, and management.OBJECTIVE: To familiarize the reader with the neuro-ophthalmic manifestations of sarcoidosis. MATERIALS AND methods: All patients underwent systemic evaluations (chest radiograph, magnetic resonance imaging and/or computed tomography, serum angiotensin-converting enzyme level, and gallium scan). Histologic confirmation was preferred (11 of 15 patients underwent biopsy, ten of whom [82%] had positive biopsies, and four refused). Otherwise, the diagnosis of clinical sarcoidosis was based on laboratory evaluation. RESULTS: We report our experience with 15 patients who had neuro-ophthalmic manifestations of sarcoidosis other than optic neuropathy or chiasmal disease. Eight of 15 (53%) did not have known sarcoidosis at the time of presentation. Thirteen of 15 (87%) patients demonstrated lesions consistent with sarcoidosis on magnetic resonance imaging of the brain. Treatment with corticosteroids and/or other immunomodulatory agents was necessary in all cases. CONCLUSIONS: Neuro-ophthalmic manifestations of sarcoidosis are rare. They may be the presenting signs of otherwise occult disease. Suspicion and inclusion in the differential are a key to establishing the diagnosis. A strategy for the detection and evaluation of these cases is presented.- - - - - - - - - - ranking = 0.18163635609817keywords = brain (Clic here for more details about this article) |
10/92. Ocular manifestations of hindbrain-related syringomyelia and outcome following craniovertebral decompression.PURPOSE: To analyse and evaluate associated ocular symptoms and signs in hindbrain-related syringomyelia and their response to treatment. methods: From a database of 275 patients treated in a single institution for hindbrain hernia and syringomyelia, 39 patients (14%) had ocular symptoms and signs. Only 31 patients were included in this study; the remainder were excluded due to inadequate follow-up information. All patients had confirmed evidence of hindbrain-related syringomyelia with MRI scan or CT myelogram. Treatment included craniovertebral decompression or ventriculo-peritoneal shunting. The mean follow-up was 23 months. RESULTS: In addition to the well-recognised sign of downbeat nystagmus, classically associated with foramen magnum abnormalities, a number of other ophthalmic features were identified. Symptoms included diplopia, oscillopsia, tunnel vision and difficulty in lateral gaze. Signs included nystagmus (downbeat, horizontal, rotatory, and combinations), strabismus, disc pallor, anisocoria, ptosis and field defect. patients were categorised into two groups depending on whether the ocular features were manifest at first presentation (group 1, n = 14) or developed later in the course of the disease (group 2, n = 17). The delay in diagnosis from first presentation was 5 and 6 years respectively. All patients underwent surgery. Craniovertebral decompression was performed in 13 patients in group 1 and in 15 patients in group 2. Ventriculo-peritoneal shunt was inserted in 1 patient in group 1 and in 3 patients in group 2, for the associated hydrocephalus. Following surgery, 100% of patients in group 1 and 82% of patients in group 2 had complete or partial resolution of their ocular symptoms and signs. CONCLUSIONS: The presence of unexplained ophthalmic features such as nystagmus or oscillopsia should alert one to the potential diagnosis of hindbrain-related syringomyelia. Delay in diagnosis is often associated with poorer outcome. Surgical treatment can offer excellent results for these patients.- - - - - - - - - - ranking = 1.4530908487853keywords = brain (Clic here for more details about this article) |
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