Dystonic opisthotonus: a "red flag" for neurodegeneration with brain iron accumulation syndromes?

摘要: Back arching was reported in one of the very first patients with neurodegeneration brain iron accumulation syndrome (NBIAs) published 1936. However, recent reports have mainly focused on genetic and imaging aspects these disorders, phenotypic characterization dystonia has been lost. In evaluating NBIAs our centers, we observed that action-induced dystonic opisthotonus is a common characteristic feature NBIAs. Here, present case series presenting this demonstrated by videos. We suggest could be useful “red flag” for clinicians to suspect NBIAs, discuss differential diagnosis feature. This would particularly identifying no as yet (for example, phospholipase A2, group IV (cytosolic, calcium-independent) [PLA2G6]-related disorders), it management implications. © 2013 The Authors. Movement Disorders Wiley Periodicals, Inc. behalf International Parkinson Disorder Society.