1/9. Quantitative MR diffusion mapping and cyclosporine-induced neurotoxicity.Apparent diffusion coefficient maps of two patients with cyclosporine-induced neurotoxicity showed areas of increased diffusion that corresponded to the characteristic regions of signal change on routine T2-weighted sequences. The majority of lesions subsequently resolved without residual T2 or diffusion signal alteration. These findings suggest that, in our patients, the neurotoxic effects of cyclosporine resulted in a partially reversible extravasation of fluid into the cerebral interstitium and were not associated with acute ischemia.- - - - - - - - - - ranking = 1keywords = cerebral (Clic here for more details about this article) |
2/9. esophageal atresia and tracheo-esophageal fistula in a patient with digeorge syndrome.digeorge syndrome (DGS) is a congenital disorder that affects the thymus, parathyroid glands, and heart and brain. Thymus involvement in DGS may vary between absence/hypoplasia of thymus to various forms of reduced T cell function. TBX1 deficiency causes a number of distinct vascular and heart defects, suggesting multiple roles in cardiovascular development, specifically, formation and growth of the pharyngeal arch arteries, growth and septation of the outflow tract of the heart, interventricular septation, and conal alignment. Here the authors describe a case of DGS presenting with severe combined immunodeficiency, esophageal atresia, and tracheoesophageal fistula (TEF). DGS is an important differential diagnosis in TEF.- - - - - - - - - - ranking = 0.011343753733078keywords = brain (Clic here for more details about this article) |
3/9. Emergence and compartmentalization of fatal multi-drug-resistant cytomegalovirus infection in a patient with autosomal-recessive severe combined immune deficiency.The authors describe a patient with autosomal-recessive severe combined immunodeficiency (SCID) with severe, multiorgan cytomegalovirus (CMV) disease. In the face of appropriate therapy, the patient developed a 100-fold gradient in viral load across the blood-brain barrier. Disseminated disease, including pneumonitis, contributed to a fatal outcome. Serial genotypic analyses revealed multiple UL97 and UL54 (dna polymerase) mutations that conferred phenotypic resistance to all currently licensed systemic CMV antivirals.- - - - - - - - - - ranking = 0.011343753733078keywords = brain (Clic here for more details about this article) |
4/9. Cerebral lymphoma in an adenosine deaminase-deficient patient with severe combined immunodeficiency receiving polyethylene glycol-conjugated adenosine deaminase.polyethylene glycol-conjugated adenosine deaminase (PEG-ADA) provides an alternate therapy to mismatched stem cell transplantation for patients with ADA-deficient severe combined immunodeficiency. Although replacement therapy with PEG-ADA is effective in preventing infections, immune function does not return to normal, and most patients remain lymphopenic. Information is limited regarding the prognosis of patients on long-term ADA-replacement therapy. Here we present a case of a 10-year-old child who was diagnosed with ADA-severe combined immunodeficiency at 4 weeks of age after contracting pneumonia. Treatment with PEG-ADA was begun, the biochemical markers of ADA deficiency normalized, and his clinical progress was very good without significant infections. At 10 years of age, after presenting with headaches and cranial nerve deficits, he was diagnosed with Epstein-Barr virus-positive malignant brain lymphoma. It did not respond to various regimens of aggressive chemotherapy, and the patient expired 5 months later. We speculate that in this patient the immunologic surveillance by T cells may have been defective with respect to elimination of Epstein-Barr virus-infected cells, hence the formation of neoplasm. The possible mechanisms underlying such pathology are reviewed.- - - - - - - - - - ranking = 0.011343753733078keywords = brain (Clic here for more details about this article) |
5/9. Deteriorating neurological and neuroradiological course in treated biotinidase deficiency.We report a 7-month-old female baby with recent onset of neurological manifestations and mucocutaneous candidiasis. Immunological findings were compatible with severe combined immune deficiency (SCID). Infectious etiology of the central nervous system (CNS) involvement was ruled out. biotinidase deficiency was suspected because of the concomitance of neurological and immunological deficits and was confirmed by enzymatic assay. Comprehensive treatment, including bone marrow transplantation (BMT) and biotin, resulted in immunological recovery, but no improvement of neurological condition. Serial brain CT scans over a period of 2 1/2 years demonstrated profound progression of brain atrophy involving gray matter.- - - - - - - - - - ranking = 0.022687507466157keywords = brain (Clic here for more details about this article) |
6/9. cytomegalovirus retinitis and optic neuritis in a child with severe combined immunodeficiency syndrome.BACKGROUND. Although cytomegalovirus (CMV) infection of the retina and brain is common in patients with acquired immunodeficiency syndrome (AIDS), it is exceedingly rare in patients with immunodeficiencies due to other causes. This is the first report on ocular and cerebral histopathology of disseminated CMV in a child with severe combined immunodeficiency syndrome (SCID). methods. The authors examined by routine histopathologic methods the eyes of a 2-year-old white boy with SCID and bilateral CMV retinitis who died after failure of a third attempt at allogeneic bone marrow transplantation (BMT). RESULTS. Cytomegalovirus inclusions were found in the necrotic retinal remnants, in the hyperplastic and scarred retinal pigment epithelium, and bilaterally in the optic nerves. There were infiltrates of macrophages in response to the infection or the infused silicon, but no lymphoid infiltrates. Cytomegalovirus inclusions also were found in brain tissue. CONCLUSION. The histologic features resembled those of CMV retinitis and optic neuritis in AIDS.- - - - - - - - - - ranking = 1.0226875074662keywords = cerebral, brain (Clic here for more details about this article) |
7/9. Multifocal remitting-relapsing cerebral demyelination twenty years following allogeneic bone marrow transplantation.We report a case study of a female who received an allogeneic bone marrow transplantation (BMT) from a sex-mismatched related donor and who, after a twenty-year interval, developed an acute fulminant biopsy-proven demyelinating disorder of cerebral white matter which followed a remitting-relapsing chronic course. in situ hybridization studies using Y-chromosome-specific markers revealed Y-chromosome-positive mononuclear cells in biopsy samples of white matter. magnetic resonance imaging (MRI) studies of the asymptomatic healthy male donor showed multiple white matter lesions. These observations suggest that donor lymphocytes were sensitized to central nervous system (CNS) antigens prior to or at the time of transplantation but remained dormant for 20 years before becoming activated to cause widespread demyelination.- - - - - - - - - - ranking = 5keywords = cerebral (Clic here for more details about this article) |
8/9. Detection of archetype and rearranged variants of jc virus in multiple tissues from a pediatric PML patient.jc virus (JCV) establishes persistent infections in its human host, and in some immunocompromised individuals, the virus causes the fatal brain disease progressive multifocal leukoencephalopathy (PML). Two forms of the virus, archetype and rearranged, have been isolated, with the latter being derived from the archetype form by deletion and duplication of sequences within the viral transcriptional control region (TCR). We have used the PCR technique to amplify JCV TCR sequences present within multiple tissues of a pediatric PML patient and have cloned and sequenced the PCR products. Archetype JCV was readily detected in kidney tissue; this form of JCV was also identified for the first time in brain and lymph node tissue by employing archetype-specific PCR primers. In addition, several archetype-like variants containing small deletions within their regulatory regions were isolated from cardiac muscle and lung. Different, but related rearranged forms were detected in most of the tissue examined. Each of the rearranged TCRs lacked portions of a 66 base pair (bp) region found within the archetype promoter-enhancer but retained a 23 bp region that is deleted in the prototype (Mad 1) rearranged form of JCV. Although several rearranged forms of JCV were identified in this patient, the TCRs could be assigned to one of two groups based upon the deletion boundaries generated during the adaptation from archetype to rearranged JCV. This study is the first to characterize multiple JCV variants present in different tissues from a patient likely to have succumbed to PML during a primary infection.- - - - - - - - - - ranking = 0.022687507466157keywords = brain (Clic here for more details about this article) |
9/9. Acquired autoimmune thrombocytopenia post-bone marrow transplantation for severe combined immunodeficiency.Children with severe combined immunodeficiency (SCID) have profoundly diminished humoral and cellular immunity resulting in death during infancy unless immune reconstitution occurs by bone marrow transplantation (BMT). thrombocytopenia post-bone marrow transplantation can be seen in relation to infection, graft-versus-host disease (GVHD) and rarely, as an autoimmune phenomenon due to immune dysregulation. We report two cases of severe AITP following BMT for SCID. Both cases developed large intracerebral hemorrhages from which one died. Autoimmune thrombocytopenia in this setting can be life-threatening and we recommend early and active intervention.- - - - - - - - - - ranking = 1keywords = cerebral (Clic here for more details about this article) |