Journal of child neurology
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There are now 21 agents or classes of therapeutic agents in the Friedreich ataxia research pipeline (http://www.curefa.org/pipeline.html) that have been developed in the 15 years since the discovery of the frataxin gene, with the ongoing characterization of its mutations and the resulting molecular pathology. Twenty-four studies are currently posted on ClinicalTrials.gov. ⋯ Millions of dollars from public, private, and industry-based initiatives have been dedicated to research in Friedreich ataxia therapeutics. Despite this vigorous international effort, there is as yet no proven disease-modifying therapy for Friedreich ataxia.
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Valproate overdose, extensively described in adults and older children, has been reported in only 1 newborn: a 26-day-old female who developed a severe cerebral edema leading to a fatal outcome. Therefore, the consequences of valproate overdose are largely unknown in the neonatal period. ⋯ His brain magnetic resonance imaging showed symmetric focal T1 prolonged signals in both globi pallidi that completely resolved over time, a neuroimaging pattern that was not previously described in valproate overdose. Our case report suggests that valproate overdose in newborns can be completely reversible even when the valproate and ammonium blood levels are very high.
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Mental nerve neuropathy causes the "numb chin" syndrome and is usually associated with mandibular bone injury or disease in adults. It has been reported in adults during sickle cell crises. We describe a 15-year-old boy who developed bilateral mental nerve neuropathies during a sickle cell crisis. This case is unusual because of the simultaneous bilateral involvement and because of the age.
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Corticosteroids have been the mainstay for management of cerebral edema caused by leaky angiogenic vessels associated with high-grade brain tumors since the early 1960s. Chronic corticosteroid use can cause iatrogenic Cushing syndrome, which is associated with weight gain and abdominal striae (striae distensae). ⋯ We report the first pediatric case of a 14-year-old boy with corticosteroid-induced abdominal striae who developed ulceration and dehiscence of the striae following the introduction of bevacizumab therapy. The combination of high-dose corticosteroids and anti-vascular endothelial growth factor therapy may cause significant complications, especially in children who are susceptible to abdominal striae and therefore should be avoided.