Journal of child neurology
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Case Reports
Polyoma nephropathy and progressive multifocal leukoencephalopathy in a renal transplant recipient.
Progressive multifocal leukoencephalopathy is a progressive and ultimately fatal white-matter disease of the brain that is associated with polyomavirus infection. It is uncommon in the general population, and even in the immunosuppressed patient, who is inherently at greatest risk for active infection with the virus, it is rare. The causative agent in progressive multifocal leukoencephalopathy, JC virus, has become increasingly important in recent years as its role in nephropathy in the renal transplant recipient has become better understood. We present a young renal transplant patient who developed nephropathy with renal biopsy changes consistent with polyomavirus lesions and then developed mental status changes and was diagnosed with progressive multifocal leukoencephalopathy.
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Tuberous sclerosis complex is an autosomal dominant disorder characterized by abnormal cellular differentiation and proliferation, as well as abnormal neuronal migration. It is a disease affecting multiple organ systems and typically has brain involvement, causing severe disabilities. ⋯ The potential pathogenesis of neuropsychiatric problems is explored, including links to the genetics, neuropathology, neurotrophins, and epilepsy factors associated with tuberous sclerosis complex. Treatment of neuropsychiatric symptoms, including autism-like features, attention deficits, and sleep disorders, is also discussed.
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The fulminating form of subacute sclerosing panencephalitis is an extremely rare condition. Imaging findings are usually not correlated with clinical staging. ⋯ Follow-up magnetic resonance spectroscopy revealed findings that were consistent with clinical status. It is our opinion that magnetic resonance spectroscopy could demonstrate a rapidly progressive fulminating course of subacute sclerosing panencephalitis even in the early clinical stages.
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The interindividual varying cognitive performance in female patients with Turner's syndrome has usually been attributed to the interindividual varying mosaicism with a consecutive variable loss of X-chromosome DNA or to secondary risk factors such as estrogen deficiency owing to ovarian failure. The aim of our study was to determine the specific impact of X chromosome-related features and associated risk factors, on the one hand and familial influences, on the other hand on the interindividual variation in the cognitive phenotype. One hundred and one subjects with Turner's syndrome and 53 sisters as controls for familial influences were examined by comparing the cognitive information processing abilities (Kaufmann Assessment Battery for Children [K-ABC]). ⋯ In contrast, neither the individual mosaic status nor the known associated risk factors predicted the neurocognitive phenotype in Turner's syndrome. These results are corroborated in the regression analyses in those subjects with Turner's syndrome with a sister (Simultaneous Processing(sister) for Simultaneous Processing(Turner's syndrome): beta = .346, P < .05, corrected R2 = .049; and Mental Processing Composite(sister) for Mental Processing Composite(Turner's syndrome): beta = .354, P < .05, corrected R2 = .033). The interindividual variation of intellectual abilities in Turner's syndrome seems to be primarily related to familial coinfluences and not to the interindividual varying loss of X-chromosome DNA in terms of hidden mosaicism or potential associated risk factors.
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In industrialized nations with widespread immunization programs, Guillain-Barré syndrome is the most common cause of acute paralytic illness in children and adults. The incidence of the disease has been estimated to range from 0.5 to 1.5 in 100,000 in individuals less than 18 years of age. ⋯ The prognosis for recovery in children is generally excellent, with the majority of children achieving a complete functional recovery within 6 months from the onset of illness. Studies using an animal model of human Guillain-Barré syndrome, experimental allergic neuritis, have expanded our understanding of the pathogenesis of the disease and suggest new directions for exploration in the treatment of this disorder.