Optic pathway gliomas in neurofibromatosis.
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Biomedical subjects
Publications and source records attributed to V Purvin.
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A 70-year-old man developed a syndrome of progressive nondominant parietal and occipital dysfunction including palinopsia and a visual field defect. Despite the marked focality of his clinical findings, radiologic studies were normal. Myoclonus and ataxia began 6 weeks after onset of his illness at which time brain biopsy confirmed Creutzfeldt-Jakob disease (CJD). This is the first reported case of palinopsia due to CJD.
A 13-year-old boy developed visual loss in association with an upper respiratory tract infection. Neuro-ophthalmologic examination indicated a lesion at the junction of the right optic nerve and chiasm. Laboratory investigation and subsequent serologic studies demonstrated recent Epstein-Barr virus infection, suggesting an association of chiasmal optic neuritis with Epstein-Barr virus infection.
A 14-year-old girl developed severe bilateral optic neuritis 1 week after the onset of chickenpox. Though previous case reports state that complete recovery is the rule, this child had a persistent decrease in visual acuity in the right eye and loss of color vision and defects in visual fields in both eyes.
Glomus jugulare tumors have the ability to synthesize, store, and secrete biogenic amines. Although the majority of these tumors remain endocrinologically silent, on rare occasions they present either as a pheochromocytoma or with a carcinoid syndrome. We report a 20-year-old male with two intracranial tumors: an intrasellar neoplasm and a glomus jugulare tumor. Catecholamine catabolites in the urine were not increased, and blood pressure was always normal. The pituitary tumor was an adenoma, immunostaining positive for prolactin. The second patient, a 29-year-old hypertensive male, with a glomus jugulare tumor, had increased vanillylmandelic-acid excretion. In both cases, the paraganglioma tumor cells contained numerous dense-core vesicles (125 to 380 nm in diameter) in electron microscopy, and showed intense fluorescence by the sucrose-potassium phosphate-glyoxylic acid method. Using high-performance liquid chromatography and microspectrofluorometry we were able to establish the presence of large amounts of dopamine in the cytoplasm of the tumor cells.
A 16-year-old boy developed monocular visual loss due to optic neuropathy following frontal head trauma. His trauma was unique in that it consisted of a static loading force to the brow, rather than the dynamic impact more commonly associated with blunt orbital injuries. This case demonstrates the role of isolated deformation of orbital bones in the pathogenesis of indirect optic nerve injury.
Anterior ischemic optic neuropathy (AION) is primarily a disease of middle and late life. When it affects the young patient, AION is often due to a specific underlying disease process predisposing to vasculopathy. Reported here are two patients with AION in whom no evidence of associated disease was found. The tendency for recurrent attacks of disc ischemia distinguishes this clinical entity from the more common idiopathic form of AION of older individuals. Hypotheses regarding possible etiology are discussed.
A 39-year-old man with a left parietal malignant glioma was treated with intracarotid infusion of 1,3-bis(2-chloroethyl)-1-nitrosourea (BCNU). Five weeks after a second infusion, he developed inferior altitudinal visual field loss and pallid optic disc edema ipsilateral to the injection. Retinal vasculitis is a well-recognized complication of intra-arterial BCNU infusion. It is believed that this patient suffered a similar vasculopathy in the posterior ciliary artery circulation.
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We have found that in addition to the 11-cis and 9-cis isomers of retinal which are known to couple with the visual pigment apoprotein opsin to form pigments, a third isomer 9,13-dicis retinal also will form a pigment. That this isomer is indeed bound to opsin has been shown unequivocally by removing the chromophore without isomerization and subsequent identification by high-speed liquid chromatography. Using similar techniques, we have shown that the product of bleaching by light of all three pigments in Trition X-100 is the all-trans isomer. This specificity in the product of bleaching, as with many other properties of visual pigments, is not shared by the free chromophore. Of particular interest is that when 9,13-dicis retinal is combined with opsin to form a pigment, a single photon can isomerize it about two double bonds, to the all-trans isomer.
Difficulties in the diagnosis of cerebral thrombosis are due to the nonspecificity of symptoms and signs and the infrequent occurrence on computed tomography (CT) of direct signs of cerebral sinus thrombosis, i.e. the empty delta sign and cord sign. We present two patients, a 2 4/12-year-old girl with nephrotic syndrome, coma, papilledema, and hyperdensity along the sagittal sinus on CT; and a 34-year-old man with headaches, episodic visual loss, papilledema and a normal CT following posterior fossa craniotomy. On MRI, there was increased signal in sagittal and straight sinuses in the first patient, and in the lateral sinus in the second patient. The increased signal from clot, and the absence of signal from flowing blood, make MRI the procedure of choice for the initial diagnosis of cerebral sinus thrombosis.