1/37. Immune-mediated retinopathy in a patient with stiff-man syndrome.BACKGROUND: Stiff-man syndrome is a rare neurological disorder characterised by rigidity and violent spasms of the body musculature. In the majority of patients, presence of antibodies against glutamic acid decarboxylase (GAD), the enzyme synthesizing gamma-aminobutyric acid (GABA), suggests an autoimmune attack against GABA-ergic inhibitory neurons. We report a 32-year-old patient with stiff-man syndrome and anti-GAD antibodies who developed subacute progressive loss of vision in the right eye, and in the left eye 18 months thereafter. methods: Ophthalmological work-up included electro-retinogram (ERG), visual evoked potentials (VEP) and fluorescein angiography. Antiretinal antibodies were investigated using an indirect immunofluorescence technique on frozen sections of macaque retina with patients serum and FITC-conjugated goat antihuman immunoglobulin. Staining with monoclonal anti-GAD65 antibodies and with serum from three healthy normals served as controls. RESULTS: visual acuity of both eyes decreased to 0.16 within a span of 6 weeks. Perimetry revealed a central scotoma in the visual field of both eyes. VEP and flash ERG were progressively disturbed on the right eye. On the left eye, initially only pattern ERG and photopic responses were abnormal. Follow-up recordings revealed widespread pathology of photopic single and flicker responses. Immunofluorescence revealed strong reactivity of the inner plexiform layer and to a lesser extent staining of the outer plexiform layer at dilutions of 1:1000 with patients serum. The same retinal staining pattern was obtained with monoclonal anti-GAD65 antibodies. CONCLUSIONS: These findings suggest autoimmune retinopathy, mediated by anti-GAD65 autoantibodies as the underlying cause of visual loss.- - - - - - - - - - ranking = 1keywords = spasm (Clic here for more details about this article) |
2/37. Extensive brain calcification in two children with bilateral Coats' disease.We report two children with bilateral Coats' disease associated with cerebral calcifications in the basal ganglia and deep white matter, asymptomatic at the time of their discovery. cerebellar ataxia developed secondarily in one of them. Both children were born small for date and had febrile convulsive seizures. Three similar patients have been previously reported, two of them in the same sibship; the third reported patient died of aplastic anemia. Bilateral Coats' disease in children should prompt systematic CT scan in search of cerebral calcifications. If present, neurological and genetic prognosis should be cautious.- - - - - - - - - - ranking = 0.060691484556968keywords = seizure (Clic here for more details about this article) |
3/37. Nystagmus mimicking spasmus nutans as the presenting sign of bardet-biedl syndrome.PURPOSE: To investigate the nystagmus of twin brothers presenting with spasmus nutans later diagnosed as bardet-biedl syndrome. methods: The twins presented at the age of 14 months with a presumed diagnosis of spasmus nutans. They were followed clinically and with quantitative electro-oculographic eye movement recordings until the age of 6 years. RESULTS: polydactyly, truncal obesity, mild delay in cognitive development, visual acuity of 20/100, attenuated retinal vessels and pale disks, and bilaterally almost extinguished scotopic and photopic electroretinograms were found in both brothers. They had fine, fast, pendular, disconjugate, intermittent, oblique nystagmus. No head nodding was observed. CONCLUSION: As described in patients with other retinal diseases such as achromatopsia and congenital stationary night blindness, nystagmus of patients with bardet-biedl syndrome can mimic spasmus nutans.- - - - - - - - - - ranking = 2490.2104562902keywords = spasmus nutans, spasmus, nutans, spasm (Clic here for more details about this article) |
4/37. 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 = 0.060691484556968keywords = seizure (Clic here for more details about this article) |
5/37. Presumed Eales' disease with neurologic involvement: report of three cases.PURPOSE: To report three cases of presumed Eales' disease with neurologic lesions. methods: case reports, systemic and neurologic evaluation, and magnetic resonance imaging. RESULTS: All three patients were young men who had seizures in the past; two had migrainous headache. magnetic resonance imaging showed putaminal infarct in two cases and edema in the white matter of temporal cortex was noticed in one case. Clinical features in all these patients were suggestive of Eales' disease. CONCLUSION: Ischemic infarction of the brain can be seen in clinically suspected cases of Eales' disease.- - - - - - - - - - ranking = 0.060691484556968keywords = seizure (Clic here for more details about this article) |
6/37. Invasive thymoma with paraneoplastic retinopathy.A 60-year-old man was admitted for progressive visual loss in both eyes. He was diagnosed with retinopathy and chest computed tomography revealed an invasive thymoma. In western blot analysis, serum autoantibodies against recoverin, photoreceptor-specific calcium-binding protein, and heat shock cognate protein 70 which were identified as the cause of cancer-associated retinopathy (CAR). Immunofluorescence staining showed that thymoma cells also expressed recoverin. These observations strongly suggested that similar pathogenesis of CAR was involved in the presented case.- - - - - - - - - - ranking = 0.11102178452555keywords = west (Clic here for more details about this article) |
7/37. Leopard spot retinal pigmentation in infancy indicating a peroxisomal disorder.BACKGROUND: Neonatal adrenoleucodystrophy (NALD) is a rare disorder resulting from abnormal peroxisomal biogenesis. Affected patients present in infancy with developmental delay, hypotonia, and seizures. Blindness and nystagmus are prominent features. The authors suggest a characteristic leopard spot pigmentary pattern in the peripheral retina to be diagnostic. methods: Three patients are reported with this presentation; the characteristic retinal appearance resulted in early diagnosis for one of these. CONCLUSION: Leopard spot retinopathy in an infant with hypotonia, seizures, developmental delay, with or without dysmorphic features and hearing impairment, is a clue to the diagnosis of NALD.- - - - - - - - - - ranking = 0.12138296911394keywords = seizure (Clic here for more details about this article) |
8/37. Clinical applications of optical coherence tomography for the diagnosis and management of macular diseases.Optical coherence tomography provides high-resolution cross-sectional images of macular pathology in vivo. Owing to its noninvasive noncontact nature and use of near-infrared illumination of the fundus, it is well tolerated by patients. The images can be obtained without dilation and are highly reproducible,quantifying retinal thickness with an axial resolution of 10 microm. These qualities make OCT a powerful diagnostic tool complementary to fluorescein angiography, photography, and biomicroscopy.Optical coherence tomography has proved to be particularly useful for the clinical evaluation of vitreoretinal interface disorders and alterations of the structural anatomy of the macula, such as from edema, choroidal neovascularization, and detachment of the neurosensory retina or RPE. The information obtained from high-resolution evaluation of retinal anatomy allows the diagnosis of conditions that are difficult to establish with biomicroscopy or angiography and improves the clinician's ability to make the optimal treatment decision. The quantitative assessment of OCT allows an objective means to monitor disease progression and therapeutic response.A logical application of this technology is the evaluation of underlying macular pathology in patients considering cataract extraction. Uncovering vitreomacular traction, epiretinal membranes, occult choroidal neovascular membranes with minimal CME, subretinal fluid accumulation, and RPE detachments greatly impacts the clinical management of cataract patients and the weighing of surgical risks and benefits. OCT is a uniquely powerful means of visualizing retinal morphology and pathology that may not be revealed using current techniques of biomicroscopy, fluorescein angiography, or B-scan ultrasonography, and serves as the newest adjunct in diagnostic technology.- - - - - - - - - - ranking = 0.11102178452555keywords = west (Clic here for more details about this article) |
9/37. An atypical case of aicardi syndrome with favorable outcome.aicardi syndrome is a severe congenital disorder characterized by infantile spasms, chorioretinal lacunae, and agenesis or hypogenesis of the corpus callosum. A 6 month old female had developed abnormal eye movement and seizures of the complex partial type and myoclonic type. MRI pictures of the patient revealed the presence of genu associated with agenesis of the rest of corpus callosum. A funduscopic examination revealed bilateral small, solitary, pale areas with sharp borders, some of which had minimal surrounding pigmentation (chorioretinal lacunae), especially clustered around the disc, and they were more prominent on the left side. We report here on the unusual findings of a complex partial seizure, myoclonic seizure and the atypical EEG finding in addition to the well-known characteristic clinical and imaging findings of a patient with aicardi syndrome.- - - - - - - - - - ranking = 81.681693735245keywords = infantile spasm, spasm, seizure (Clic here for more details about this article) |
10/37. Callosal agenesis, chorioretinal lacunae, absence of infantile spasms, and normal development: aicardi syndrome without epilepsy?aicardi syndrome is defined by the clinical triad of infantile spasms, agenesis of the corpus callosum, and pathognomonic chorioretinal lacunae. Almost all patients are females with severe cognitive and physical disabilities. All of the cases reported in the literature have had early-onset seizures. Most cases of aicardi syndrome exhibit very slow development, even when seizures are eventually controlled, and the cases with a relatively favourable outcome are associated with low intelligence quotient levels. A relationship between chorioretinal changes or severity of the agenesis of the corpus callosum and prognosis of aicardi syndrome has been claimed, but few data are available about the clinical features that can predict clinical outcome. We describe a case of aicardi syndrome in a female aged 24 months. magnetic resonance imaging showed complete agenesis of the corpus callosum and ophthalmoscopy revealed chorioretinal lacunae in the left eye. She had never had seizures and her psychomotor and language development were normal for age.- - - - - - - - - - ranking = 407.68017086154keywords = infantile spasm, spasm, seizure (Clic here for more details about this article) |
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