Dystonic Opisthotonus: a "red Flag" for Neurodegeneration with Brain Iron Accumulation Syndromes?

Overview

Journal Mov Disord

Date 2013 Jun 6

PMID 23736975

Citations 20

Authors

Maria Stamelou

Scarlett C Lai

Annu Aggarwal

Susanne A Schneider

Henry Houlden

Tu-Hsueh Yeh

Amit Batla

Chin-Song Lu

Mohit Bhatt

Kailash P Bhatia

Affiliations

Soon will be listed here.

Abstract

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

Citing Articles

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