1/152. Clinical, pathologic, and neurochemical studies of an unusual case of neuronal storage disease with lamellar cytoplasmic inclusions: a new genetic disorder?A child of first-cousin Puerto Rican parents had global developmental delay, failure to thrive, and hypotonia since early infancy. At 1 1/2 years of age, she developed clinical and electrophysiologic evidence of progressive motor and sensory neuropathy. At 2 1/2 years, she developed visual impairment and optic atrophy followed by gradual involvement of the 7th, 9th, 10th, and 12th cranial nerves. Uncontrollable myoclonic seizures began at 4 years and she died at 6 years of age. Motor nerve conduction velocities were initially normal and later became markedly slowed. Sensory distal latency responses were absent. Lysosomal enzyme activities in leukocytes and fibroblasts were normal. sural nerve and two muscle biopsies showed only nondiagnostic abnormalities. Electron microscopy of lymphocytes, skin, and fibroblasts showed cytoplasmic inclusions. light microscopy of frontal cortex biopsy showed neuronal storage material staining positively with Luxol fast blue, and electron microscopy showed cytoplasmic membranous bodies in neurons, suggesting an accumulation of a ganglioside. At autopsy, all organs were small but otherwise normal and without abnormal storage cells in the liver, spleen, or bone marrow. Anterior spinal nerve roots showed loss of large myelinated axons. The brain was small and atrophic; cortical neurons showed widespread accumulation of storage material, most marked in the pyramidal cell layer of the hippocampus. Subcortical white matter was gliotic with loss of axons and myelin sheaths. In cortical gray matter there was a 35% elevation of total gangliosides, with a 16-fold increase in GM3, a three- to four-fold increase in GM2 gangliosides, and a 15-fold elevation of lactosyl ceramide. GM3 sialidase activity was normal in gray matter at 3.1 nmols/mg protein per hour and lactosyl ceraminidase I and II activities were 70% to 80% of normal. In white matter, total myelin was reduced by 50% but its composition was normal. Phospholipid distribution and sphingomyelin content were normal in gray matter, white matter, and in the liver. These biochemical findings were interpreted as nonspecific abnormalities. The nature of the neuronal storage substance remains to be determined.- - - - - - - - - - ranking = 1keywords = nerve (Clic here for more details about this article) |
2/152. Retinal red-free light photographs in two congenital conditions: a case of optic hypoplasia and a case of congenital hemianopia.Two patients with congenital anomalies involving the optic pathways are described. The first case presented a unilateral hypoplastic optic nerve as well as an ipsilateral inferior conus and an elevated disc. The second case showed the features of homonymous hemianopia with sparing of the macula and decreased visual acuity on the side of the affected cerebral hemisphere. Red-free photographs were obtained in both cases. The importance of this old-new investigative tool in completing a neuro-ophthalmological study is stressed.- - - - - - - - - - ranking = 0.25keywords = nerve (Clic here for more details about this article) |
3/152. optic atrophy following prophylactic chemotherapy and cranial radiation for acute lymphocytic leukemia.Two patients with acute lymphocytic leukemia developed progressive optic nerve and chiasmal lesions eight to nine months after the initiation of identical chemotherapy protocols that included intrathecal medication and prophylactic radiation of only 2,400 rads to the central nervous system. Both patients eventually lost all vision despite additional radiotherapy, and there was no evidence of leukemia involving the central nervous system after acute lymphocytic leukemia was diagnosed. optic nerve biopsy in one case showed changes consistent with radiation necrosis.- - - - - - - - - - ranking = 0.5keywords = nerve (Clic here for more details about this article) |
4/152. Optic glioma with characteristic bilateral optic atrophy in a 3-year-old girl.We report a case of optic glioma with bilateral optic atrophy. A 3-year-old girl presented with vomiting and left hemiparesis. She had hypothalamic dysfunction, right ptosis, right monocular nystagmus, left facial palsy, left hemiparesis, and left pes adductus. neuroimaging studies showed obstructive hydrocephalus with a large suprasellar calcified tumor with a ring-like enhancement mimicking craniopharyngioma. Visual-evoked potentials showed delayed latency of N75 in the right occipital lead. The tumor, a pilocytic astrocytoma in the right optic tract and chiasma, was partially removed via a right frontotemporal craniotomy. The right optic nerve had shrunk to half the normal diameter and became twisted downwardly. intracranial pressure (ICP) increased to 40 cm H2O. The fundus had bilateral optic atrophy without disc swelling. To our knowledge, this is the first report of a lamina/dot sign of the optic disc in a small child with a brain tumor and a normal neuroretinal fiber layer. These ocular findings may result from possible interruption of the axonal flow caused by the tumor and not increased ICP.- - - - - - - - - - ranking = 0.25keywords = nerve (Clic here for more details about this article) |
5/152. 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 = 0.75keywords = nerve (Clic here for more details about this article) |
6/152. Prolapsing gyrus rectus as a cause of progressive optic neuropathy.The pathogenesis of optic neuropathy caused by neurovascular compression or by similar mechanisms is unclear. Thin-slice magnetic resonance (MR) imaging was performed in 69 patients with optic neuropathy without demonstrable ophthalmological lesions (57.0 /- 17.1 years of age) and 102 normal subjects (57.7 /- 13.9 years of age). The MR imaging features were classified into "no compression" by the internal carotid artery (ICA), "compression" by the ICA, "no contact" with the anterior cerebral artery (ACA) or the gyrus rectus, "contact" with either or both, "compression" by the ACA, and "compression" by the gyrus rectus. The Spearman correlation coefficients were calculated between patients or controls, the MR classification, and the age, and the number of patients in each MR classification were evaluated by the chi 2 test. Five of the 69 patients with rapidly progressive symptoms were operated on via the frontotemporal approach. The MR imaging feature of "compression" by the gyrus rectus was the best predictor of optic neuropathy (Spearman correlation coefficients rho = -0.23646, p < 0.0018). This MR imaging feature was observed in 38 of 69 patients and in 32 of 102 controls (p = 0.002). Compression of the nerve by the gyrus rectus or the ACA was confirmed in all five operated cases. decompression of the nerve was fully achieved in four of the five patients, and their symptoms have not progressed since then. Optic neuropathies due to compression by the prolapsing gyrus rectus are not well understood. Such neuropathies may be detected by MR imaging.- - - - - - - - - - ranking = 0.5keywords = nerve (Clic here for more details about this article) |
7/152. Perineurial cell hyperplasia in early-onset polyneuropathy with multiple cranial neuropathies.We describe a patient who as a teenager developed a sensory-motor polyneuropathy with optic atrophy. Over the next three decades, multiple cranial neuropathies appeared. Striking areas of subperineurial cellular proliferation were observed on sural nerve biopsy. The ultrastructural and immunohistochemical characteristics of these aggregates were those of perineurial cell hyperplasia. To our knowledge, this is the second full report associating perineurial cell hyperplasia with a sensory-motor polyneuropathy and the first in the English literature.- - - - - - - - - - ranking = 0.25keywords = nerve (Clic here for more details about this article) |
8/152. Radioactive plaque therapy for metastatic choroidal carcinoma.PURPOSE: To describe the outcome of radioactive episcleral plaque therapy for treatment of metastatic carcinoma to the choroid. DESIGN: Retrospective, noncomparative case series. PARTICIPANTS: Five patients (six eyes) with carcinoma metastatic to the choroid. methods: Retrospective review of the clinical records of five patients (six eyes) who underwent radioactive episcleral plaque therapy for choroidal metastases. MAIN OUTCOME MEASURES: Tumor height, visual acuity, radiation optic neuropathy, and radiation retinopathy. RESULTS: Radioactive episcleral plaque therapy resulted in shrinkage of the treated tumors and resolution of subretinal fluid in all eyes. After plaque treatment, best-corrected visual acuity was maintained within two lines of initial visual acuity for two eyes, decreased more than two lines for one eye, and improved more than two lines in three eyes. The treatment was well tolerated and there was no acute toxicity. Late complications included optic nerve atrophy (at 2 years) with proliferative radiation retinopathy (at 3 years) in one eye and optic atrophy (at 6 months) in another eye that had received prior external beam therapy. CONCLUSIONS: In carefully selected cases, radioactive episcleral plaque therapy appears to be an effective and reasonable treatment for carcinoma metastatic to the choroid.- - - - - - - - - - ranking = 0.25keywords = nerve (Clic here for more details about this article) |
9/152. Late sequelae of radiation therapy in cancer of the head and neck with particular reference to the nasopharynx.Sequlae of radiation therapy may be late in occurring and varied in their manifestations. Although some are untreatable and progressive, the risk of development of some other sequelae can be minimized by careful application of radiotherapy or by ancillary measures, such as dental decay prophylaxis. Some of the serious sequelae secondary to radiation therapy of the nasopharynx have been summarized. These include radiation myelitis, paralysis of the cranial nerves, stricture of the pharynx, radiation-induced cancer, and necrosis with fatal hemorrhage.- - - - - - - - - - ranking = 0.25keywords = nerve (Clic here for more details about this article) |
10/152. Bilateral optic nerve atrophy in myotonic dystrophy.PURPOSE: To document a case of bilateral optic atrophy in a patient with myotonic dystrophy. myotonic dystrophy is an autosomal dominant disorder, genetically resulting from an expansion of an unstable CTG repeat in the 3'-untranslated region of a protein kinase gene (DMPK) on chromosome 19q13.3. methods: Case report, clinical examination, fundus photographs, visual fields, visual evoked potentials, electroretinograms, and genetic studies of a 56-year-old woman clinically diagnosed with myotonic dystrophy. RESULTS: The patient experienced decreased vision consisting of light perception with the right eye and 20/25 with the left. Fundus examination showed bilateral pallor of the optic disks. intraocular pressure was normal. Visual field testing, visual evoked potentials, and electroretinogram were abnormal. A pathologic CTG expansion in the myotonic dystrophy gene was found. CONCLUSIONS: In a patient with myotonic dystrophy, confirmed with genetic molecular diagnosis, bilateral optic atrophy was present. optic atrophy should be considered a possible complication of myotonic dystrophy.- - - - - - - - - - ranking = 1keywords = nerve (Clic here for more details about this article) |
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