Tissue inflammatory response in subacute sclerosing panencephalitis (SSPE).

The pattern of inflammatory infiltration was studied in the frontal brain biopsies of 28 cases with subacute sclerosing panencephalitis (SSPE) by immunohistochemistry. Lymphocytic infiltration and gliosis were common pathologic findings. CD4+ T lymphocytes were often observed in perivascular areas and CD8+ lymphocytes in the parenchyma. B lymphocytes were located in large perivascular cuffs associated with longer and slower disease. Major histocompatibility complex antigens, interferon-gamma, and tumor necrosis factor-alpha (TNF-alpha) were expressed in endothelial and glial cells. The inflammatory lesions in subacute sclerosing panencephalitis consist of various cell subtypes and cytokines localized in particular areas of the brain tissue and show certain associations with clinical course.

Apoptosis in brain biopsies of subacute sclerosing panencephalitis patients.

Subacute sclerosing panencephalitis (SSPE) is associated with inflammatory infiltration, neuronal loss, and demyelination. The pathogenesis of these changes is unclear. We examined DNA fragmentation and Bcl-2 expression in brain biopsies of nineteen SSPE patients to investigate the role of apoptosis in tissue damage. DNA fragmentation was present in oligodendroglia, and, in tissues with neuronal loss, in neurons. Reactive astrocytes had no DNA fragmentation, but strong Bcl-2 expression. These results suggest apoptosis as one of the mechanisms for oligodendroglial and neuronal death in SSPE.

Myasthenia gravis in childhood.

Clinical features, serum acetylcholine receptor antibody (AChRAb) titres and course were reviewed in a series of 25 congenital (CMG) and 30 juvenile (JMG) myasthenia gravis cases to recognize characteristics of childhood-onset myasthenia and its subgroups. The initial symptom for CMG is ptosis accompanied or followed by generalized weakness; myasthenic crises do not occur and spontaneous remissions are rare. In JMG, the distribution of weakness remains the same, but the severity fluctuates: spontaneous remissions (6 patients) and myasthenic crises (10 patients) are observed. Good response to anticholinesterase drugs is slightly more frequent in JMG (62 versus 41%). AChRAbs were present in 9/26 JMG tested, girls with onset after 11 years being more likely to be Ab-positive. Since patients with autoimmune myasthenia and a young age of onset are often seronegative, clinical features such as changing distribution of weakness, fluctuating severity, or response to treatment might be considered as supportive criteria for differentiating JMG from CMG.

The effect of inosiplex in subacute sclerosing panencephalitis: a clinical and laboratory study.

The immunomodulatory action of inosiplex, a drug frequently used in subacute sclerosing panencephalitis (SSPE), varies according to its dose and the subjects' immune status. In order to assess its effect in children and adolescents with SSPE, inosiplex (25-50 mg/kg/day) was given to 9 patients aged 7-17 years. Their clinical and immunologic status was evaluated before and after 2 months' treatment. Lymphocyte mitogenic response decreased in 6 cases. These patients were clinically stable or improving during this period. Changes in cytotoxicity (increased in 5/6 patients) and suppressor cell function (increased in 4/8 and decreased in 4/8) were not significant nor associated with any particular clinical course. Our results suggest that inosiplex at this dose is more likely to suppress lymphocyte proliferation in SSPE and this is not due to advancing disease. Longer follow-up of clinical and laboratory findings seems to be indicated in therapeutic trials in SSPE.

Cimetidine as an immunomodulator in subacute sclerosing panencephalitis: a double blind, placebo-controlled study.

Cimetidine, an H2 histamine receptor antagonist, was used in subacute sclerosing panencephalitis patients for its immunomodulatory effect. Patients were randomly assigned to cimetidine (n = 7) and placebo (n = 7) groups. Neurologic disability index, lymphocyte functions, cerebrospinal fluid measles antibodies and IgG index were evaluated before and after 2 months of treatment. The neurologic disability index of the cimetidine group remained stable during the study period whereas the placebo group worsened. There were no differences in the immunologic test results, cerebrospinal fluid measles antibody titers and IgG index of the two groups. This study suggests that cimetidine may have a favorable effect on the clinical progression of subacute sclerosing panencephalitis. Further studies are required to investigate its mechanism of action and the associated changes in immune status.

Occidental type cerebromuscular dystrophy: a report of eleven cases.

Occidental type cerebromuscular dystrophy (OCMD) forms a substantial distinct group within congenital muscular dystrophy (CMD). These patients invariably present with amyotrophy, multiple joint contractures, facial muscle involvement, normal or nearly normal intelligence, leukodystrophic appearance on CT scan, and dystrophic changes in muscle.

N-acetylaspartic aciduria in Canavan disease: another proof in two infants.

Increased amounts of urinary N-acetyl-aspartic acid was found in two infants with biopsy proven Canavan disease. The aspartoacylase assay is a new tool for determining both the prenatal and antenatal diagnosis of Canavan disease. This assay should be screened in patients with early onset of psychomotor deterioration, macrocephaly, spasticity/hypotonia and white matter hyperleucency at CT scan.

Lymphoscintigraphic evaluation of primary congenital lymphedema.

A-four-year-old girl with primary nonfamilial congenital lymphedema was evaluated by lymphoscintigraphy using 99mTc-Dextran. It was demonstrated that there was no accumulation of radioactivity in the left inguinal and femoral lymph nodes and faint accumulation in the contralateral lymph node. It was concluded that lymphoscintigraphy is a safe, reliable, noninvasive technique which is helpful in the evaluation of a patient with lymphedema, especially small children in whom conventional contrast lymphangiography offers some challenges.

Congenital muscular dystrophy with cerebral involvement--report of a case of "occidental type cerebromuscular dystrophy"?

Cerebral CT scan abnormalities have been seen to be afflicted with some cases of classic occidental type congenital muscular dystrophy (CMD) with normal or borderline intelligence without neurological abnormality. A case is presented with early hypotonia, joint contractures, muscle biopsy features of CMD, normal intelligence and diffuse white matter hyperlucency on CT scan. Every CMD case should be screened with cerebral CT and magnetic resonance (MRI) scans to reach more aspects of this heterogenous disorder.

Hyperlysinemia without clinical findings.

A three-year-old asymptomatic boy with hyperlysinemia is presented. The patient's plasma lysine levels have been constantly high (685-1370 mumol/l) and excessive urinary excretion of ornithine, arginine and cystine have been noted. There was no detectable activity of lysine-ketoglutarate reductase nor saccharopine dehydrogenase in skin fibroblast culture. Review of the reported cases and this patient with serious biochemical defect but without symptoms indicate clinical heterogeneity in hereditary hyperlysinemia.