Cases reported "Nervous System Diseases"

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1/27. Neurological symptoms in patients whose cerebrospinal fluid is culture- and/or polymerase chain reaction-positive for mycoplasma pneumoniae.

    We describe 13 patients with neurological signs and symptoms associated with mycoplasma pneumoniae infection. M. pneumoniae was isolated from the cerebrospinal fluid (CSF) of 9 patients: 5 with meningoencephalitis, 2 with meningitis, and 1 with cerebrovascular infarction. One patient had headache and difficulties with concentration and thinking for 1 month after the acute infection. M. pneumoniae was detected, by means of PCR, in the CSF of 4 patients with negative culture results. Two had epileptic seizures, 1 had blurred vision as a consequence of edema of the optic disk, and 1 had peripheral nerve neuropathy.
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keywords = lyme
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2/27. Congenital infection with human herpesvirus 6 variant B associated with neonatal seizures and poor neurological outcome.

    Human herpesvirus 6 (HHV 6) has neurotropic and neuroinvasive properties. The virus has been found in the cerebrospinal fluid of many children with aseptic meningoencephalitis. Intrauterine transmission has been documented by HHV 6 dna detection in cord blood specimens of apparently healthy newborns and in fetuses following spontaneous abortions. A patient is described with early neonatal afebrile seizures resulting from a congenital HHV 6 variant B infection disclosed by repeated detection of viral genome by polymerase chain reaction (PCR) in cerebrospinal fluid in the first days of life. At follow-up, magnetic resonance imaging (MRI) studies disclosed hyperintensities in the periventricular white matter and basal ganglia, associated with cerebral atrophy. Further follow-up at 18 months revealed poor neurological outcome with mild neurodevelopmental retardation, strabismus and hypertonia of legs. This report provides evidence of neurological involvement after HHV 6 vertical transmission, and the association with neurological sequelae.
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3/27. Inflammatory signs, antibody response and antigen detection in cerebrospinal fluid over the course of neuroborreliosis.

    CSF and serum specimens were consecutively obtained from three patients with neuroborreliosis (stage I, II and III), CSF protein content, cell counts and differential, IgG index, oligoclonal bands and anti-B. burgdorferi antibodies were measured. cerebrospinal fluid (CSF) was tested for Borrelia-dna being present prior to and after antibiotic treatment. While dna could be identified before ceftriaxone was administered, there were no more amplification products afterwards. The goal of this study was to compare the usefulness of serodiagnostic methods and the detection of borrelia burgdorferi-dna in patients with clinically confirmed neuroborreliosis to test the efficiency of antibiotic therapy.
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ranking = 30.703203716883
keywords = burgdorferi
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4/27. Chronic neurodegenerative disease associated with HTLV-II infection.

    Although human T-cell leukemia virus (HTLV) type I is known to cause a number of diseases, there has been no convincing evidence of pathological changes after infection with the related virus, HTLV-II. We have found an endemic focus of HTLV-II infection among members of an American Indian population in new mexico, USA. We set out to determine the pathological consequences of HTLV-II infection in this population and identified two sisters (aged 59 and 46 years) with a disease superficially resembling the myeloneuropathy induced by HTLV-I. These women had a syndrome similar to the olivopontocerebellar atrophy variant of multiple system atrophy, and HTLV-II infection was confirmed by western blot and the polymerase chain reaction. Thus, HTLV-II may, like HTLV-I, cause a progressive neurodegenerative disease.
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keywords = lyme
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5/27. A fatal case of west nile virus infection in a bone marrow transplant recipient.

    west nile virus (WNV) can cause severe, potentially fatal neurological illnesses, which include encephalitis, meningitis, guillain-barre syndrome, and anterior myelitis. Because of the short viremic phase, WNV infection is most commonly diagnosed by detection of immunoglobulin m antibody to WNV in serum or cerebrospinal fluid (CSF). We describe a patient with T cell lymphoma who had undergone a T cell-depleted bone marrow transplantation and developed fatal WNV infection. The results of serological tests of blood samples and of CSF tests were negative. diagnosis was made postmortem by a positive result of reverse-transcriptase polymerase chain reaction (ABI 7700; TaqMan) for WNV in stored CSF and serum samples.
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keywords = lyme
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6/27. A novel transthyretin mutation at position 30 (Leu for Val) associated with familial amyloidotic polyneuropathy.

    A novel transthyretin (TTR) mutation associated with familial amyloidotic polyneuropathy was detected in a Japanese patient. Single-strand conformation polymorphism analysis and sequence analysis of polymerase chain reaction (PCR)-amplified exons of the patient's TTR gene revealed a point mutation resulting in a substitution of leucine for valine at position 30. As the mutation creates a Cfr13I site, it was confirmed by PCR and restriction analysis. Our finding indicates the importance of position 30 in TTR-derived amyloid fibril formation.
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7/27. A novel polymerase gamma mutation in a family with ophthalmoplegia, neuropathy, and Parkinsonism.

    BACKGROUND: Mutations in polymerase gamma cause progressive external ophthalmoplegia and a variety of associated symptoms and signs, including neuropathy, ataxia, hypogonadism, hearing loss, muscle weakness, and psychiatric problems. Extrapyramidal signs have been rarely described. OBJECTIVE: To describe a family with a novel polymerase gamma mutation and autosomal dominant transmission of progressive external ophthalmoplegia, neuropathy, hypogonadism, and parkinsonism. DESIGN: Case report. patients: The proband, a 49-year-old woman with incipient parkinsonism, and her 59-year-old brother with overt parkinsonian features. MAIN OUTCOME MEASURES: Mutation in the proband by sequencing the polymerase gamma gene and in affected relatives by restriction fragment length polymorphism analysis. RESULTS: We found multiple mitochondrial dna deletions in the proband's muscle and a novel missense mutation in the polymerase gamma gene (A2492G) in the proband and in her affected siblings. CONCLUSION: Parkinsonism was a prominent clinical feature in this family with autosomal dominant ophthalmoplegia, multiple mitochondrial dna deletions, and a novel mutation in the polymerase gamma gene.
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ranking = 2.25
keywords = lyme
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8/27. The clinical and epidemiological profile of lyme neuroborreliosis in denmark 1985-1990. A prospective study of 187 patients with borrelia burgdorferi specific intrathecal antibody production.

    This prospective study reports the clinical and epidemiological features of 187 consecutive patients with neuroborreliosis recognized in denmark over the 6-yr period, 1985-1990. Only patients with intrathecal borrelia burgdorferi specific antibody synthesis were included. In 1990 regional incidences varied between 5.7 and 24.1 per million. Ninety-four percent of the patients had early (second stage) neuroborreliosis. The most common manifestation was a painful lymphocytic meningoradiculitis (Bannwarth's syndrome) either with paresis (61%) or as a radicular pain syndrome only (25%). central nervous system (CNS) involvement in early neuroborreliosis was rare; 4% had signs of myelitis and only one patient had acute encephalitis. Children showed a different course of the disease. Six percent of the patients suffered a chronic course with a disease duration between 6 mths and 6 yrs either as chronic lymphocytic meningitis (1.6%) or as third stage chronic encephalomyelitis (4.3%). Meningeal signs were rare despite pronounced inflammatory cerebrospinal fluid (CSF) changes (median cell count 160/microliters; median protein concentration 1.13 g/l). High dose i.v. penicillin g was administered to 91% of the patients. Based on the clinical outcome and normalization of CSF no treatment failures were recognized. The final morbidity after a median follow-up of 33 mths was low; disabling sequelae were reported in nine patients, mainly those with previous CNS involvement. We conclude that neuroborreliosis is a common and characteristic neurological disorder. The diagnosis should be based on the demonstration of inflammatory CSF changes and B. burgdorferi specific intrathecal antibody production.
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ranking = 92.109611150649
keywords = burgdorferi
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9/27. The role of HTLV in hiv-1 neurologic disease.

    We performed a serologic survey for antibodies to HTLV-I/II in the course of a longitudinal study of the neurologic complications of hiv-1 infection. Nine (3.7%) of 242 hiv-1 seropositive subjects and none of 60 hiv-1 seronegative control subjects had antibodies to HTLV-I/II by ELISA. Western blot and polymerase chain reaction confirmed the presence of HTLV-I in 2 subjects and HTLV-II infection in 2 others. Both hiv-1/HTLV-I coinfected subjects and 1 hiv-1/HTLV-II coinfected subject had a slowly progressive myelopathy clinically identical tropical spastic paraparesis/HTLV-I-associated myelopathy (TSP/HAM). The presence of a myelopathy resembling TSP/HAM in the coinfected subjects suggests that hiv-1 may enhance the expression of neurologic disease caused by HTLV. patients with a progressive myelopathy occurring in association with hiv-1 infection should be serologically tested for the presence of HTLV. Establishing dual infection has therapeutic and prognostic import as 1 of the hiv-1/HTLV-I subjects substantially improved with corticosteroids and the hiv-1/HTLV-II subject with myelopathy had a marked improvement in the absence of therapeutic intervention.
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keywords = lyme
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10/27. A novel transthyretin mutation associated with familial amyloidotic polyneuropathy.

    We characterized the mutation associated with familial amyloidotic polyneuropathy in a Japanese patient. sequence analysis of polymerase chain reaction-amplified exons of the transthyretin gene revealed a novel point mutation resulting in a substitution of arginine for glycine at position 47. The mutation was confirmed using allele-specific olgonucleotide hybridization procedures. This most likely represents a de novo mutation since neither parent carries the mutant allele.
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