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Objective. After lumbar puncture, many adults develop headaches or backaches. Postpuncture complaints are believed to be rare in children and adolescents, but their exact incidence is unclear because there is a paucity of data derived from general pediatric patients. In a prospective study of general pediatric and neuropediatric patients, we investigated the frequency of postlumbar puncture headaches or backaches and factors that might influence their occurrence. Methods. Conducted over 12 months, the prospective study included 112 patients aged 2 to 16 years. We evaluated them for factors that might influence the rate of postpuncture complaints: age, gender, use of local anesthesia, cannula gauge, bevel orientation, number of puncture attempts, volume of cerebrospinal fluid (CSF) aspirated, and cell count in CSF. Results. Twenty-seven percent of the patients experienced headaches (positional headache in 9%), and 40% developed backache. Frequency of complaints increased in relation to patients' age. In older children, girls reported complaints more frequently than did boys. Patients with higher cell counts in CSF had more frequent headaches than did patients without pleocytosis. Cannula gauge or bevel orientation did not influence outcome. Conclusion. The frequency of positional and nonpositional headaches after lumbar puncture is lower in children than in adults. Backaches contribute significantly to postpuncture morbidity. With puberty, the incidences of postpuncture complaints increase, and girls start to become more prone to develop postpuncture headaches. Recommendations regarding cannula gauge or bevel orientation that derive from studies in adults are not confirmed for children. Pediatrics 2004;113: 1588-1592; postlumbar puncture headache, postlumbar puncture backache, children, adolescents, age, gender, pleocytosis, cannula gauge, bevel orientation., ABBREVIATIONS. CSF, cerebrospinal fluid. Lumbar puncture is one of the most frequently performed invasive diagnostic procedures in children and adolescents. Hence, it is remarkable that few studies have been devoted [...]

The symptoms, behavior and treatment of 11 children with mevalonic aciduria are discussed. Mevalonic aciduria is a metabolic disorder caused by reduced levels of the enzyme mevalonate kinase. All of the children had varying degrees of mental retardation as well as failure to grow. They suffered from repeated bouts of fever, vomiting and diarrhea. Four died during the first few years of life. All of the children had reduced mevalonate kinase activity and elevated levels of mevalonic acid in their blood. However, their blood levels of cholesterol and other fats were normal or slightly reduced. Magnetic resonance imaging (MRI) revealed atrophy of the brain in 10 of the children. Treatment with cholesterol appeared to have little effect. Treatment with the drug lovastatin, which blocks the formation of mevalonic acid, caused a severe reaction in two children. This crisis resolved when they were treated with corticosteroids, which also seemed to reduce the symptoms of mevalonic aciduria., Objective. Mevalonic aciduria is a consequence of the deficiency of mevalonate kinase, the first enzyme after 3-hydroxy-3-methylglutaryl-coenzyme A reductase in the biosynthesis of cholesterol and nonsterol isoprenes. To establish the clinical and biochemical phenotype of mevalonic aciduria, the authors assembled their experience with 11 patients including attempts at therapeutic interventions. Methods. Mevalonic acid in body fluids was determined by stable isotope dilution gas chromatography/mass spectroscopy with selected ion monitoring, ubiquinone-10 concentrations by reversed-phase high-pressure liquid chromatography. Results. Varying degrees of severity of clinical illness were observed despite uniform, virtual absence of residual activity of the enzyme. The most severely affected patients have had profound developmental delay, dysmorphic features, cataracts, hepatosplenomegaly, lymphadenopathy, and anemia, as well as diarrhea and malabsorption, and have died in infancy. Less severely affected patients have had psychomotor retardation, hypotonia, myopathy, and ataxia. All patients have had recurrent crises in which there was fever, lymphadenopathy, increase in size of liver and spleen, arthralgia, edema, and a morbilliform rash. Neuroimaging studies revealed selective and progressive atrophy of the cerebellum. Mevalonic acid concentrations were found to be grossly elevated in body fluids of all patients. Concentrations of plasma cholesterol were normal or only slightly reduced. Concentrations of ubiquinone-10 in plasma were found to be decreased in most patients. Abnormalities such as hypoglycemia, metabolic acidosis, or lactic acidemia, the usual concomitants of disorders of organic acid metabolism, were conspicuously absent. Conclusions. These observations establish the broad range of clinical symptoms and biochemical findings in mevalonic aciduria. It is concluded that although patients with mevalonic aciduria have a recognizable phenotype of serious clinical manifestations, some patients are likely to remain undiagnosed and may be found in a variety of subspeciality clinics, including neurology, gastroenterology, cardiology, and genetics. Pediatrics 1993; 91:915-921; mevalonic aciduria, enzyme deficiency, 3-hydroxy-3-methylglutaryl-coenzyme A reductase inhibitors, rhabdomyolysis, cerebellar atrophy, ubiquinone-10, leukotriene [E.sub.4].