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Query: UMLS:C0004134 (ataxia)
 15,886 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A sporadic case of sudanophilic leukodystrophy of the simple form (Peiffer) was reported. The patient was three-year-old girl who had suffered from progressive developmental retardation and neurological disorders such as ataxia, cortical blindness and spastic paralysis of the extremities for eighteen months after she had showed normal development till one and a half years old and died from respiratory insufficiency. On admission, computerized tomogram scan demonstrated diffuse low density lesions of the cerebral white matter extending subsequently to the subcortical white matter. Examination of cerebrospinal fluid revealed only slight increase of protein. Lysosomal enzyme activities such as arylsulfatase and beta-galactosidase in the white blood cells were normal except for distinctly low activity of a-mannosidase without any clinical symptoms suggesting a-mannosidase deficiency. Amino acids in blood were normal. The brain weighed 900 gm. On the coronal sections most part of the cerebral white matter was so strongly degenerated and disappeared that the lateral ventricular structure was not discernible. Histologically, a diffuse and symmetrical demylination, loss of axons including U fibers and moderate gliosis were observed in the residual white matter in the cerebrum and pons. There was no inflammatory cells and metachromatic substances. Large amount of sudanophilic droplets showing polarizing cross and needle like crystals were found in the intra- and/or extracytoplasm of macrophages. Demyelinated lesions with little tissue reaction were also found in the cerebellum, medulla oblongata and in pyramidal tracts through midbrain to cervical spinal cord. There were slight loss of neurons and moderate astrocytosis in the cerebral cortex and basal ganglia. There were no Rosenthal fibers and no sparing of islets of myelin.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[A case of simple form of sudanophilic leukodystrophy of a child which showed a marked loss of cerebral white matter and fatty liver]. 407 73

A review of protothecosis in dogs revealed that this malady usually begins in the gastrointestinal tract and progresses to systemic involvement. Clinical signs generally include bloody diarrhea or blood-stained feces as well as blindness, ataxia, and polyuria. Histologically, myriads of protothecal organisms in different stages of development are found in the granulomatous lesions. Two main species have been culturally identified: Prototheca zopfii and P wickerhamii. In the absence of cultural studies, species identification can be accomplished readily by immunofluorescence. The present case involved P zopfii infection in a 5-year-old female Cocker Spaniel that had bloody diarrhea, with a history of bloody diarrhea 6 months earlier.
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PMID:Canine protothecosis: review of the literature and report of an additional case. 675 71

In a retrospective study of 4,294 consecutive postmortem cases, there were 15 with histologically proved sarcoidosis, including 4 with CNS involvement. Whereas in previously reported autopsy series the prevalence of neurosarcoidosis was 15%, it is 27% in this review. Five cases with incidental, clinically inapparent sarcoidosis died at a mean age of 54.6 years; those six with systemic sarcoidosis, not involving the CNS, died at a mean age of 47.0 years; while those four with a variety of neurologic manifestations in addition to systemic sarcoidosis died at a mean age of 38.2 years. Thus, it appears that at one end of the spectrum of morbidity, sarcoidosis may cause no or only trivial symptoms and permit prolonged survival. At the other extreme, sarcoidosis may affect a younger population more severely. CNS involvement occurs relatively early in the course and its rather rapidly progressive, accounting for the poor prognosis, despite appropriate medical and neurosurgical management. In its turn, neurosarcoidosis may present with a variety of signs and symptoms, depending on the site of involvement along the craniospinal axis. This feature is illustrated by the manifestations of compression myelopathy, hydrocephalus with dementia, hydrocephalus with seizures and ataxia, and anosmia, blindness, seizures, and diabetes insipidus. In addition, one patient developed a Nocardia brain abscess as a complication of the altered immune system in sarcoidosis.
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PMID:Pathobiology of neurosarcoidosis and clinicopathologic correlation. 683 29

Lead, cadmium, mercury and arsenic are widely dispersed in the environment. Adults are primarily exposed to these contaminants in the workplace. Children may be exposed to toxic metals from numerous sources, including contaminated air, water, soil and food. The chronic toxic effects of lead include anemia, neuropathy, chronic renal disease and reproductive impairment. Lead is a carcinogen in three animal species. Cadmium causes emphysema, chronic renal disease, cancer of the prostate and possibly of the lung. Inorganic mercury causes gingivitis, stomatitis, neurologic impairment and nephrosis, while organic mercurials cause sensory neuropathy, ataxia, dysarthria and blindness. Arsenic causes dermatitis, skin cancer, sensory neuropathy, cirrhosis, angiosarcoma of the liver, lung cancer and possibly lymphatic cancer.
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PMID:Occupational and community exposures to toxic metals: lead, cadmium, mercury and arsenic. 716 33

The records of 37 patients with systemic lupus erythematosus (SLE) followed at The Children's Hospital of Philadelphia between 1968 and 1978 were reviewed for evidence of central nervous system (CNS) involvement. Criteria for CNS involvement included evidence of organic brain syndrome, electroencephalographic abnormalities with symptoms referable to CNS, or objective neurologic signs. Sixteen of 37 children had CNS involvement (43%). Thirteen patients had CNS involvement at the onset of SLE. Three patients had late onset CNS manifestations 1 to 2 years after the diagnosis of SLE. The most frequently observed symptoms were headache, behavior disorder, lethargy, diplopia, blurred vision, memory alteration, dizziness, and alteration of consciousness. The most frequently observed neurologic signs were seizures, cranial nerve palsy, ataxia, papilledema, nystagmus, meningitis, tremor, rigidity, cortical blindness, and coma. Neuropsychiatric manifestations included organic brain syndrome, functional psychosis, and personality disorder. Laboratory tests showed elevated cerebrospinal fluid opening pressure and protein, negative cultures, and abnormal electroencephalograms and computerized axial tomography scans. Fourteen of 16 children with CNS manifestations are alive. Thirteen had a mean IQ of 89 by the Wechsler Intelligence Tests. Twelve are in educational programs. One required long-term psychiatric care. A residual neurologic abnormality, a seizure disorder, was present in 3. CNS involvement with SLE in children carries a favorable prognosis.
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PMID:Central nervous system involvement in childhood systemic lupus erythematosus. 731 16

Studies of the retina in 6- and 22-month-old English setters with progressive blindness, ataxia, and muscle weakness demonstrated a marked accumulation of abnormal cytosomes within neurons and retinal pigmented epithelial cells. Ganglion cells contained abundant cytosomes with evenly spaced stacks of membranes; bipolar and amacrine cell cytosomes consisted of dense, amorphous material with closely spaced configurations of light and dark lines; cytosomes within photoreceptor cells contained faintly staining curved profiles. All three cytosomes resembled those previously reported in brain neurons of CCL dogs. In retinal pigmented epithelial cells, there were prominent accumulations of lamellar fragments, either free in the cytoplasm or incorporated into melanin granules. These retinal abnormalities are likely to be related to deficiences of peroxidase and defects of lipid peroxidation. The pathologic and biochemical changes seen in these dogs are similar in many respects to those reported in human patients with Batten disease. As such, these dogs provide a convenient model for the study disease mechanisms and for therapeutic approaches to blindness in Batten disease.
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PMID:Studies on the retina and the pigment epithelium in hereditary canine ceroid lipofuscinosis. III. Morphologic abnormalities in retinal neurons and retinal pigmented epithelial cells. 735 Jan 37

Arizonosis occurred in a flock of 10,000 broilers in the state of Sao Paulo. Among 45 specimens submitted for examination at 15 days of age, there was blindness, and nervous symptoms with ataxia, torticollis, and opisthotonos. Necropsy showed caseous material in the vitreous body of the eyeballs and in the cortical region of the brain; S. arizonae 18:z4,z32 (Ar. 7:1,7,8) was isolated. Both ocular and brain lesions were reproduced by exposure of day-old chicks to the isolate by oral and intraocular dosage, by pen contact, and by intraperitoneal injection. Lesions in the brain were most prominent in the ventricles and consisted of necrotic masses containing eosinophilic cells surrounded by macrophages, and epithelioid and multinucleated cells. Lesions of the eye were most often related to the retina.
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PMID:Natural and experimental Salmonella arizonae 18:z4,z32 (Ar. 7:1,7,8) infection in broilers. Bacteriological and histopathological survey of eye and brain lesions. 744 34

A heterogeneous group of neurological disorders known as the spinocerebellar ataxias (SCA) are characterized by degeneration of the cerebellum, spinal cord and brainstem. We describe linkage analysis in four unusual SCA families revealing a distinct disease locus on chromosome 3p14-21.1. The disease in these families is distinguished from other forms of SCA by concomitant retinal degeneration. Initial visual problems leading to blindness, disabling ataxia and anticipation are seen in all kindreds. The anticipation in these families suggests a dynamic mutation at this locus. Eventual molecular characterization of this disease may provide valuable insights into the processes of both neural and retinal degeneration.
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PMID:Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p. 764 99

A 6-year-old girl had progressive ataxia, and visual disturbances resulting in blindness. She died in her sleep at age 22 years. She shared with her sister and paternal relatives bilateral pes cavus deformities and impaired deep-tendon reflexes which suggested Charcot-Marie-Tooth disease. Her sister, who also had both polyneuropathy and a progressive central nervous system (CNS) disease, did not have pigmentary retinopathy. At autopsy, the patient was found to have neuronal ceroid-lipofuscinosis (NCL) marked by intraneuronal accumulation of autofluorescent granular lipopigments in ballooned perikarya and conspicuous extraneuronal pigmentation of subcortical grey matter, but without axonal spheroids. These findings indicate a pigment variant of NCL and represent one of very few patients recorded. The ultrastructure of the intraneuronal pigments was uniformly granular, while that of the extraneuronal pigments found within processes of the neuropil and glial perikarya was more variegated. In addition to those patients with the pigment variant of NCL, described earlier by Jakob and Kolkmann [1973: Acta Neuropathol (Berl) 26:225-236], and Jervis and Pullarkat [1978: Neurology 28:500-503], our patient shared clinical symptoms with those described in a family afflicted with polyneuropathy and NCL by Wisniewski et al. [1987: J Child Neurol 2:33-41]. Currently, it is unclear whether they have similar atypical forms of juvenile NCL (JNCL). We conclude that the spectrum of pigment variants in lysosomal diseases is heterogeneous: only few and recently described patients have had NCL, while others most likely had other forms of lipidosis.
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PMID:Pigment variant of neuronal ceroid-lipofuscinosis. 766 21

Several birds in a flock of 40 Roller canaries (Serinus canaria) from an outdoor aviary in Victoria, Australia, developed central nervous system signs that included blindness, nystagmus, ataxia, and head rotation. Four died, and four were euthanatized. Two euthanatized birds were submitted for microscopic examination of tissues. Brain lesions in both birds consisted of scattered foci of nonsuppurative meningoencephalitis with gliosis, mild to moderately extensive lymphocytic/plasmacytic perivascular cuffs, and a patchy increased prominence of cerebral blood vessels associated with hypertrophy of the vascular endothelium and/or thickening of their connective tissue walls. These lesions were associated with the presence of Toxoplasma gondii tissue cysts. Lesions in the eyes of both birds were bilateral and consisted of severe plasmacytic/granulomatous ophthalmitis. Surviving birds were treated with trimethoprim and sulfadiazine, no subsequent deaths occurred, and no new cases developed over an 8-month period.
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PMID:Central nervous system toxoplasmosis in Roller canaries. 779 85


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