Pediatric neurology
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Pediatric neurology · Feb 2012
Case ReportsHashimoto encephalopathy causing drug-resistant status epilepticus treated with plasmapheresis.
Hashimoto encephalopathy is a rare, clinically heterogenous condition. Its treatment is based on corticosteroids. A previously normal 12-year-old boy was admitted to our pediatric emergency department with status epilepticus. ⋯ A diagnosis of Hashimoto encephalopathy was considered. Our patient responded to plasmapheresis instead of corticosteroid treatment. This case report is the first, to the best of our knowledge, of plasmapheresis because of Hashimoto encephalopathy in a child.
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Pediatric neurology · Feb 2012
Novel mutation of GLRA1 in Omani families with hyperekplexia and mild mental retardation.
Hyperekplexia is characterized by neonatal hypertonia and exaggerated startle reflex in response to loud noise or tactile stimuli. Mutations in patients with hyperekplexia were evident in several genes encoding proteins involved in glycinergic neurotransmission, i.e., glycine receptor α and β subunits, collybistin, gephyrin, and glycine transporter 2. We clinically and genetically characterized two large, unrelated consanguineous families with hyperekplexia. ⋯ This mutation was absent in 400 randomly selected chromosomes in the same population. In conclusion, a novel p. W170S mutation in the extracellular ligand binding domain of glycine receptor α1 subunit was detected in patients with hyperekplexia and mild mental retardation.