Journal of child neurology
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Sepsis occurs frequently in the pediatric intensive care unit and is a significant cause of morbidity and mortality. Multiple organ systems are adversely affected by sepsis. Approximately 70% of adult patients with sepsis have peripheral nervous system dysfunction on electrophysiologic studies, of whom 30% are symptomatic. ⋯ Identifiable neuromuscular syndromes in children with sepsis include critical illness polyneuropathy, pure motor polyneuropathy, thick-filament myopathy, and necrotizing myopathy. The common underlying pathogenic process in these syndromes appears to be sepsis, which may be accentuated by the administration of steroids or neuromuscular blocking agents. Recovery in strength usually occurs over a period of weeks to months.
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Case Reports
Ornithine transcarbamylase deficiency in females: an often overlooked cause of treatable encephalopathy.
Ornithine transcarbamylase deficiency is an X-linked recessive disorder of urea biosynthesis characterized by recurrent, often fatal, hyperammonemic encephalopathy in affected males; carrier females are usually asymptomatic. We report here the clinical and laboratory findings in five symptomatic heterozygous females with ornithine transcarbamylase deficiency. In each case, the onset of symptoms occurred in the 1st year of life, but diagnosis was delayed by up to 15 years. ⋯ Neuroimaging studies demonstrated persistent abnormal lobar attenuation and abnormal signal on computed tomographic scan and magnetic resonance imaging. All patients showed marked symptomatic improvement on treatment with dietary protein restriction supplemented by pharmacologic measures to increase nonprotein nitrogen excretion. Ornithine transcarbamylase deficiency should be considered in the differential diagnosis of acute or chronic encephalopathy in females at any age.