A case report: a pediatric patient with acute lupus hemophagocytic syndrome; differences from reactive hemophagocytosis caused by hypercytokinemia.

Abstract We report the youngest known girl with acute lupus hemophagocytic syndrome (ALHS) at the onset of her illness. We investigated the pathogenesis of ALHS by assessment of factors thought to influence the onset, such as cytokines, Th1/Th2 balance, immune complexes, and autoantibodies. A girl 8 years and 10 months old with systemic lupus erythematosus (SLE) had high fever, pancytopenia, and hemophagocytosis in the bone marrow. We diagnosed SLE complicated by ALHS. Treatment with predonisolone (2 mg/kg/day) was started, and her clinical features improved. Th2 dominance of the Th1/Th2 balance, hypocomplementemia, and high levels of anti-ds-DNA antibody, PAIgG, and immune complexes were seen, but no hypercytokinenemia, hyperferritinemia, or hypertriglyceridemia. ALHS at the onset of SLE, excluding that caused by infections, could be a form of reactive hemophagocytosis caused by excessive production of autoantibodies and immune complexes. High-dose steroid therapy is effective without need for immunosuppressive drugs. Our patient showed hypocomplementemia along with high levels of anti-dsDNA antibody, anticardiolipin antibody, platelet-associated IgG (PAIgG), and immune complexes. The autoimmune-associated hemophagocytic syndrome (AAHS) is thought to involve an autoantibody-mediated mechanism or an immune complex-mediated mechanism. On the basis of our data, ALHS could simultaneously involve both these mechanisms. We demonstrated that there was no hypercytokinemia and no hyperferritinemia in ALHS associated with Th2 dominance. Autoantibodies and immune complexes may cause histiocytic hemophagocytosis in ALHS. High-dose steroids and high-dose immunoglobulin are effective but immunosuppressive drugs are not needed.

A mother and daughter with agenesis of the corpus callosum.

A mother and daughter with agenesis of the corpus callosum are reported. There have only been 11 prior case reports of the familial occurrence of agenesis of the corpus callosum in the absence of extracranial malformations. Most of these reports have described familial occurrence among siblings. The present communication is only the second description of a parent and child with agenesis of the corpus callosum. A review of the published cases of familial syndrome unrelated agenesis of the corpus callosum indicates that both mental, developmental and neurologic disorders in cases involving parent and child are milder than those in cases involving siblings. Of additional interest, electroencephalography performed in this patient during sleep, frequently revealed bilateral asynchronous sleep spindles, supporting the hypothesis of previous investigators that the synchronicity of sleep spindles requires intact intercerebral commissures.

Developmental changes in P300 wave elicited during two different experimental conditions.

Age-related correlations on auditory event-related potentials were studied using a task-relevant oddball paradigm in 175 normal subjects aged 4-21 years and age-related correlations in the "ignore" condition were studied in 108 normal subjects aged 1-21 years. In the ignore condition, subjects more than 4 years of age were instructed to read a book to divert attention from the auditory stimulus. From 4 to about 17 years of age, the latencies of task-relevant P300 in event-related potentials (ERPs) gradually shortened. In the ignore condition experiment, the P300 latency shortened progressively, but stabilized at about 12 years of age. Whereas P300 in the ignore condition likely corresponds to P3a described previously (passive attention), the conventional P300 wave corresponds to P3b (active attention). The findings indicate a developmental difference between the P3a and P3b potential.

Assessment of body composition measured by bioelectrical impedance in children.

Bioelectrical impedance methods have been found to be a valid and reliable way of estimating per cent body fat (%BF) in adults. We applied them to healthy children and compared them with conventional anthropometry methods. One thousand two hundred and sixteen children participated in this study. Impedance and skinfold thickness were measured, and %BF was estimated using these values. Bodyweight and height were measured, and per cent obesity (%OB) and body mass index (BMI) were obtained. The values of %BF by the bioelectrical impedance method (%BFi) were 8.6 +/- 4.0% in the junior male group, 14.2 +/- 2.8% in the junior female group, 7.9 +/- 4.7% in the senior male group and 16.1 +/- 2.9% in the senior female group. The %BFi correlated strongly with skinfold thickness, %OB and BMI. Thus %BFi correlated strongly with variables from conventional methods. It was concluded that it is a reliable way of assessing lipid storage in children.