21/107. Concentric sclerosis: imaging diagnosis and clinical analysis of 3 cases.Balo's Concentric sclerosis (BCS) is a rare demyelinating disease considered to be a variant of multiple sclerosis (MS). The typical magnetic resonance imaging (MRI) changes associated with BCS consist of concentric rings or onions' cross-section on T1-weighted (T1W) images. Because MRI reveals pathological changes consistent with autopsy in the focus of BCS, it plays an important role in the before-death diagnosis of BCS. We report three cases of BCS diagnosed antemortem on the basis of the typical concentric rings pattern on MRI and on the basis of clinical findings and cerebrospinal fluid (CSF) examination. BCS often occurs in the prime of life, acutely or subacutely. Then come cerebral multifocal symptoms and signs. We find that BCS is not always an acute and irreversible pathological process as described in the past.- - - - - - - - - - ranking = 1keywords = sclerosis, multiple sclerosis, ms (Clic here for more details about this article) |
22/107. Successful pregnancy of a patient with Balo's concentric sclerosis.Balo's concentric sclerosis is a severe demyelinating disease with poor prognosis. To date, nothing is known about the effects of pregnancy on the course of Balo's disease. We describe here the first successful pregnancy of a patient with Balo's concentric sclerosis. Upon neurological worsenings during pregnancy, our patient was treated with high-dose methylprednisolone and plasma-exchange. Intravenous immunoglobulin and interferon-beta-1a were given postpartum. At the last follow-up visit 2.5 years after the delivery the patient had only minor residual symptoms.- - - - - - - - - - ranking = 0.95567024950723keywords = sclerosis, ms (Clic here for more details about this article) |
23/107. Balo's concentric sclerosis associated with primary human herpesvirus 6 infection.BACKGROUND: Balo's concentric sclerosis (BCS) is a demyelinating disorder believed to be a rare variant of multiple sclerosis (MS). Human herpesvirus 6 (HHV-6) is a highly neurotropic virus causing severe central nervous system (CNS) infections predominantly following reactivation of latent HHV-6 in immunocompromised individuals. Primary infection with HHV-6 usually occurs in early childhood manifesting as exanthema subitum. The clinical spectrum of primary infection in adolescents or adults has not yet been evaluated.Case report: A previously healthy 13 year old girl developed acute hemianopsia and anomia 5 days after an episode of fever and malaise of unknown origin. Cerebral MRI revealed three white matter lesions, one with ring-like contrast enhancement. Lumbar puncture showed mononuclear pleocytosis of 30 cells/microl, oligoclonal IgG, and a normal protein level. Follow up cerebral MRI scans revealed lamellar concentric hemispheric lesions characteristic of BCS. The first neurological symptoms of the patient coincided with primary HHV-6 CNS infection, diagnosed by a positive PCR test of the CSF together with seroconversion. Response to antiviral and corticosteroid treatment was only temporary, but immunoglobulin treatment has so far been followed by clinical stability for 30 months. CONCLUSIONS: To our knowledge, this is the first report both of an association between HHV-6 and BCS and of immunoglobulin treatment of BCS. A late primary infection with HHV-6 might be associated with BCS. Further studies in patients with this rare disease are needed to confirm this association and to evaluate the efficacy of antiviral and immunoglobulin treatment.- - - - - - - - - - ranking = 1keywords = sclerosis, multiple sclerosis, ms (Clic here for more details about this article) |
24/107. diffusion-weighted imaging findings in Balo concentric sclerosis.Balo concentric sclerosis is a rare demyelinating disease. Pathognomonic features have been previously described. diffusion-wighted imaging findings have not been previously described in Balo concentric sclerosis. We describe the diffusion-weighted imaging findings in a 45-year-old lady with Balo concentric sclerosis. diffusion-weighted imaging offers insight into the possible pathophysiology of this rare disease.- - - - - - - - - - ranking = 1.1149434033149keywords = sclerosis (Clic here for more details about this article) |
25/107. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: an imaging mimic of multiple sclerosis. A report of two cases.OBJECTIVE AND IMPORTANCE: To describe the imaging findings of two cases of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (cadasil) mimicking multiple sclerosis. CLINICAL PRESENTATION AND INTERVENTION: Two cases presenting with neurological signs and symptoms were referred for magnetic resonance imaging (MRI) evaluation of the brain. Case 1 was a 36-year-old female patient presenting with recurrent headaches and recent onset numbness in the fingers of the right hand. Neurological examination showed a mild sensory deficit in the right hand. Case 2 was a 31-year-old female patient presenting with attacks of right-sided numbness of the face and body. The neurological examination revealed a sensory loss in the face and brisk deep tendon reflexes. Routine MRI sequences showed two types of lesions in both cases: 'punctate' hyperintense lesions on T(2)-weighted images (T(2)WI)/fluid-attenuated inversion recovery (FLAIR) images, hypointense on T(1)-weighted images (T(1)WI) and 'diffuse' white matter lesions, hyperintense on T(2)WI/FLAIR sequences and isointense to hypointense on T(1)WI. All lesions showed no contrast enhancement. Both cases were previously clinically and radiologically diagnosed as multiple sclerosis. There was a strong family history consistent with recurrent infarctions in other family members of both patients. Both cases were later diagnosed as cadasil by skin biopsy/genetic linkage studies and follow-up. CONCLUSION: The cases showed that cadasil causes stroke-like episodes in adults and can mimic multiple sclerosis on imaging. Clinical evaluation and MRI findings allow a differentiation of the two entities.- - - - - - - - - - ranking = 1.4252561320016keywords = sclerosis, multiple sclerosis, ms (Clic here for more details about this article) |
26/107. pelizaeus-merzbacher disease: a valine to phenylalanine point mutation in a putative extracellular loop of myelin proteolipid.In the central nervous system, myelin proteolipid protein isoforms (PLP and DM20) play an essential structural role in myelination. It has been shown in several species that myelination is impaired by molecular defects resulting from single base mutations in the PLP gene. We have used dna amplification by polymerase chain reaction to study the PLP gene coding regions from 17 patients in 15 unrelated families with similar Pelizaeus-Merzbacher phenotype. In one case amplification of peripheral nerve PLP/DM20 cDNAs revealed that a silent T C transition was unrelated to the disease. In one family a nonsilent mutation was identified that leads to a phenylalanine substitution for valine-218 in PLP/DM20 proteins. We investigated the inheritance of the mutant allele in 19 subjects of this four-generation family and found a strict cosegregation of the Phe218 substitution with transmission and expression of the disease. The effect of the Val218 Phe mutation is discussed in the frame of a recently suggested topological model of PLP/DM20, according to which Val218 is part of an extracellular loop that connects the last two of four membrane-spanning alpha-helices.- - - - - - - - - - ranking = 4.4752373230096E-6keywords = ms (Clic here for more details about this article) |
27/107. Complete deletion of the proteolipid protein gene (PLP) in a family with X-linked pelizaeus-merzbacher disease.pelizaeus-merzbacher disease (PMD) is an X-linked neurologic disorder characterized by dysmyelination in the central nervous system. Proteolipid protein (PLP), a major structural protein of myelin, is coded on the x chromosome. It has been postulated that a defect in the PLP gene is responsible for PMD. Different single-nucleotide substitutions have been found in conserved regions of the PLP gene of four unrelated PMD patients. Novel Southern blot patterns suggested a complex rearrangement in a fifth family. Linkage to PLP has been shown in others. We evaluated the PLP locus in a four-generation family with two living males affected with X-linked PMD. Analysis of dna from the affected males revealed complete absence of a band, with PLP probes encompassing the promoter region, the entire coding region, and the 3' untranslated region and spanning at least 29 kb of genomic dna. dna from unaffected relatives gave the expected band pattern. Two obligate and one probable carrier women were hemizygous for the PLP locus by dosage analysis. Although it is unlikely, the previously described point mutations in PLP could represent polymorphisms. The finding of complete deletion of the PLP gene in our family is a stronger argument that mutations in PLP are responsible for X-linked PMD.- - - - - - - - - - ranking = 4.4752373230096E-6keywords = ms (Clic here for more details about this article) |
28/107. Psychosis following temporal lobe surgery: a report of six cases.Six consecutive patients who had had temporal lobe surgery for epilepsy, and been referred for psychiatric assessment of psychotic symptoms, are reported. Their symptoms (a delusional depression, four schizophrenia-like illnesses, and a case of Capgras' syndrome) are discussed in relation to the possible role of their operations, all of which were on the right hemisphere.- - - - - - - - - - ranking = 8.9504746460193E-6keywords = ms (Clic here for more details about this article) |
29/107. prenatal diagnosis in pelizaeus-merzbacher disease using RFLP analysis.pelizaeus-merzbacher disease (PMD) is a rare X-linked recessive disorder with severe psychomotor retardation and neurological symptoms due to an inborn abnormality of proteolipid protein (PLP), the major protein component of myelin. A tight linkage between the gene of PLP and PMD locus has been suggested. We have carried out a series of RFLP studies using a cDNA probe for PLP and an anonymous dna-fragment DXYS12 in a large Finnish family with at least three affected individuals. dna analysis on chorionic villus specimens allowed us to exclude the disease in a male fetus of a possible carrier mother and, likewise, to demonstrate carrier status in a female fetus in another at-risk pregnancy.- - - - - - - - - - ranking = 4.4752373230096E-6keywords = ms (Clic here for more details about this article) |
30/107. A case of myelinoclastic diffuse sclerosis in an adult.We report a case of rapidly progressive cerebral demyelinating disease in a previously healthy 40-year-old woman. This case satisfies the diagnostic criteria for myelinoclastic diffuse sclerosis (MDS), but is unusual in the age of onset. This is the 1st case of MDS in an adult with full documentation of clinical, biochemical, radiographic, and pathologic features.- - - - - - - - - - ranking = 0.79638814522493keywords = sclerosis (Clic here for more details about this article) |
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