Journal of child neurology
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It has recently been shown that merosin, a laminin variant, is deficient in a proportion of patients with congenital muscular dystrophy. Merosin is a heterotrimer composed of the alpha 2, beta 1, and gamma 1 subunits, and further studies have shown that it is the alpha 2 subunit that is deficient in these patients. Because the alpha 2 subunit is also expressed in S-merosin, found in Schwann cells, we have investigated whether peripheral nerve function is also affected in these patients. ⋯ Sensory nerve studies showed no difference between the two groups. These results indicate that a peripheral demyelinating neuropathy is a feature of merosin-deficient congenital muscular dystrophy. The fact that the alpha 2 subunits is also expressed in Schwann cells supports the idea that the alpha 2 gene, located on chromosome 6, is the candidate gene for merosin-deficient congenital muscular dystrophy.
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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.
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The rate of recurrence of febrile seizures and the factors predictive of a recurrence were prospectively examined in a cohort of 98 Saudi children who presented consecutively with their first febrile seizure at the pediatric emergency department of the King Khalid University Hospital, Riyadh, Saudi Arabia. Children with prior afebrile seizures or evidence of a neurodevelopmental deficit were excluded. The median age was 15 months (range, 4 to 60 months). ⋯ In a follow-up of 3 to 6 years (mean, 49 months), 26% of the 98 untreated children had at least one recurrence and only 8% had more than three recurrent febrile seizures; 30% of first recurrences took place within 3 months, 60% within 6 months, 72% within 12 months, and 96% within 24 months of the onset. Four major risk factors for recurrent febrile seizures were identified: early age at onset (< 12 months), first-degree consanguinity of parents, epilepsy in a first-degree relative, and complex initial febrile seizure. Gender, family history of febrile seizures, and degree of fever were not related to recurrence.