Pediatric neurology
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Hyperargininemia is an autosomal recessive metabolic disorder caused by a deficiency of enzyme arginase I. It is a rare pan-ethnic disease with a clinical presentation distinct from that of other urea cycle disorders, and hyperammonemic encephalopathy is not usually observed. Hyperargininemia is one of the few treatable causes of pediatric spastic paraparesis, and can be confused with cerebral palsy. ⋯ Progressive spastic diplegia constituted the key clinical abnormality in this group, but variability in clinical presentation and progression were evident in our series. Seizures in hyperargininemia may be more common than reported in previous studies. Features distinguishing hyperargininemia from cerebral palsy and hereditary spastic paraplegia are emphasized in this large series of patients.
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Pediatric neurology · Jun 2012
Management of patients with status epilepticus treated at a pediatric intensive care unit in Turkey.
We investigated the etiology, treatment, and prognosis of patients treated for status epilepticus at a pediatric intensive care unit. Medical records of 89 patients admitted to a pediatric intensive care unit with status epilepticus were reviewed retrospectively. Patients ranged in age from 2 months to 18 years (mean age ± S. ⋯ The total mortality rate was 3.4%. This lower mortality rate may be considered evidence of the effectiveness and reliability of the status epilepticus treatment protocol in our pediatric intensive care unit. Prehospital rectal diazepam administration and the treatment of brain edema in the intensive care unit may be useful in the management of patients with status epilepticus.