ABSTRACT
A defective cell-mediated immunity and inflammatory cytokines are suggested in the pathogenesis of subacute sclerosing panencephalitis. In this study we analyzed lymphocyte subsets in peripheral blood and concentrations of interleukin-1alpha (IL-1alpha), interleukin-2 (IL-2alpha), tumor necrosis factor-alpha (TNF-alpha), and platelet activating factor in plasma and cerebrospinal fluid before and after immunomodulatory therapy (interferon-alpha plus isoprinosine) in three patients with subacute sclerosing panencephalitis. Increased percentage of CD8+cells (T-suppressor/cytotoxic cell) and CD16+CD56+cells (NK cell) and reduced percentage of CD3+/HLA-DR+ (active T-cell) and CD3+ (total T-cell) cells were found before therapy. After immunomodulatory therapy, CD3+/HLA-DR+ (active T-cell) cells were markedly increased and there was a slight increase in the percentages of all lymphocyte subsets in the patients. The concentrations of platelet activating factor in plasma and cerebrospinal fluid were higher than the mean value in controls. Cerebrospinal fluid and plasma TNF-alpha and IL-2 levels were nondetectable in two patients who had a stationary course of disease and were markedly elevated in patient 3, who displayed a rapidly progressive course.
Subject(s)
Inflammation Mediators/metabolism , Lymphocyte Subsets/metabolism , Subacute Sclerosing Panencephalitis/drug therapy , Subacute Sclerosing Panencephalitis/immunology , Adjuvants, Immunologic/therapeutic use , Adolescent , Antiviral Agents/therapeutic use , Child, Preschool , Female , Humans , Inflammation Mediators/blood , Inflammation Mediators/cerebrospinal fluid , Inosine Pranobex/therapeutic use , Interferon-alpha/therapeutic use , Interleukin-1/metabolism , Interleukin-2/metabolism , Lymphocyte Subsets/drug effects , Male , Platelet Activating Factor/metabolism , Subacute Sclerosing Panencephalitis/cerebrospinal fluid , Tumor Necrosis Factor-alpha/metabolismABSTRACT
Forty-nine patients with corpus callosum (CC) anomalies were evaluated in terms of the clinical features and magnetic resonance imaging (MRI) findings. CC anomalies were classified as CC agenesis: 6 (12%), CC hypogenesis: 5 (10%), and CC hypoplasia: 38 (78%). In the CC hypoplasia group the mean value of the genu thickness of the CC was 0.29 +/- 0.1 cm, which was less than the normal value of the age-matched normal children (normal range: 0.6-1.2 cm). The associated brain abnormalities were in five distinct groups: gray matter abnormalities, white matter abnormalities, midline brain structure defects, cortical atrophy, and encephalomalacia. There was no uniformity for the clinical spectrum of CC anomalies. Microcephaly, developmental delay and seizures were the prominent findings in patients. The clinical features were more severe in cases with associated brain anomalies.
Subject(s)
Abnormalities, Multiple , Agenesis of Corpus Callosum , Brain/abnormalities , Microcephaly , Abnormalities, Multiple/diagnosis , Brain/diagnostic imaging , Brain/pathology , Child , Child, Preschool , Corpus Callosum/diagnostic imaging , Corpus Callosum/pathology , Gestational Age , Humans , Infant , Magnetic Resonance Imaging , Seizures/etiology , Tomography, X-Ray ComputedABSTRACT
We describe the clinical features of Robinow syndrome in the children of four Turkish couples. All the patients had cardinal features of this condition, such as short stature, frontal bossing, hypertelorism, short upturned nose with anteverted nares, micrognathia, mesomelic shortening of the forearms, vertebral and costal anomalies and hypoplastic genitalia. In contrast to reports in the literature, one patient showed extensive webbing of the toes and epigastric hernia. Parental consanguinity was present in two of the four cases. To our knowledge, at least 80 cases have been reported in the literature to date, including 19 cases born to Turkish couples in addition to our four cases. The evidence suggests that the frequency of Robinow syndrome is relatively higher in Turkey than in other areas of the world.
