Pediatric neurology
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Pediatric neurology · Jun 2013
Case ReportsNeonatal hypocalcemic seizures due to excessive maternal calcium ingestion.
Hypocalcemia is a common, treatable cause of neonatal seizures. A term girl neonate with no apparent risk factors developed seizures on day 5 of life, consisting of rhythmic twitching of all extremities in a migrating pattern. Physical examination was normal except for jitteriness. ⋯ The child has remained seizure free and is normal developmentally at 9 years of age. Hypocalcemic seizures in this newborn were likely secondary to excessive maternal calcium ingestion, which led to transient neonatal hypoparathyroidism and hypocalcemia. Inquiry about perinatal maternal medication use should include a search for over-the-counter agents that might not be thought of as "drugs," as in this case, antacids.
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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.
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Chiari I malformation is characterized by downward herniation of the cerebellar tonsils through the foramen magnum. Scant data are available on the clinical course, relationship to the extent of herniation on magnetic resonance imaging in Chiari I malformation and the presence of sleep-disordered breathing on polysomnography. Retrospective analysis was performed looking at polysomnographic findings of children diagnosed with Chiari I malformation. ⋯ Children with sleep-disordered breathing had excessive crowding of the brainstem structures at the foramen magnum and were more likely to have a greater length of herniation compared with those children without sleep-disordered breathing (P = 0.046). Patients with central sleep apneas received surgical decompression, and their conditions were significantly improved on follow-up polysomnography. These data suggest that imaging parameters may correlate with the presence of sleep-disordered breathing in children with Chiari I malformation.