Pediatric neurology
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Pediatric neurology · May 2013
Case ReportsStatus epilepticus as manifestation of posterior reversible encephalopathy syndrome in a healthy child.
Posterior reversible encephalopathy syndrome is a recently described cliniconeuroradiological syndrome reported in children with several predisposing conditions such as transplantation, autoimmune, hematological, infectious, renal, and neoplastic diseases or administration of chemotherapeutic immunosuppressive drugs. Seizures are one of the most frequent manifestations of posterior reversible encephalopathy syndrome; status epilepticus has been described more frequently in adults but rarely in children. ⋯ Our case reminds us that pathogenesis of this condition is far from being completely understood and may include both genetic and environmental factors. Moreover, posterior reversible encephalopathy syndrome should always be suspected by clinicians in cases of status epilepticus with a prolonged neurological failure.
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Pediatric neurology · May 2013
Case ReportsUnusual case of West Nile Virus flaccid paralysis in a 10-year-old child.
West Nile virus infection is asymptomatic in most cases. West Nile virus neuroinvasive disease includes encephalitis, meningitis, and/or acute flaccid paralysis. In children, acute flaccid paralysis as the solo presentation of West Nile virus disease is rare. ⋯ Complete recovery of his recurrent weakness was observed after prompt 5-day course of intravenous immunoglobulin G therapy. However, no improvement was noticed in the left foot drop. To our knowledge, this is the first case report of West Nile virus disease in children presented with a slowly progressive flaccid paralysis, and a recurrent weakness recovered after intravenous immunoglobulin G administration.
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Pediatric neurology · May 2013
Case ReportsIdentification of DCX gene mutation in lissencephaly spectrum with subcortical band heterotopia using whole exome sequencing.
Malformations of cortical development include a wide range of brain developmental anomalies that commonly lead to developmental delay and epilepsy. Lissencephaly and subcortical band heterotopia are major malformations of cortical development due to abnormal neuronal migration and several genes have been identified including ARX, DCX, LIS1, RELN, TUBA1A, and VLDLR. Traditionally, genetic testing for lissencephaly and subcortical band heterotopia has been done in the order of the probability of detection of mutation according to the radiologic features, but the success rate could be variable with this time-consuming approach. ⋯ Thr222Ile) in the DCX gene was identified. Further Sanger sequencing validated the variant in the patient but not in both parents indicating a de novo mutation. The present report demonstrates that whole-exome sequencing may be a useful tool for the identification of mutations in patients with lissencephaly and subcortical band heterotopias as well as malformations of cortical development.