Neurodegeneration with Brain Iron Accumulation: Two Additional Cases with Dystonic Opisthotonus

• Main Authors: Sahil Mehta, Vivek Lal
• Format: Article
• Language: English
• Published: Ubiquity Press 2019-08-01
• Series: Tremor and Other Hyperkinetic Movements
• Subjects: Opisthotonus; dystonia; neurodegeneration with brain iron accumulation; secondary; phenomenology; genetics; botulinum toxin
• Online Access: https://tremorjournal.org/index.php/tremor/article/view/683/2373

Background: Specific phenomenology and pattern of involvement in movement disorders point toward a probable clinical diagnosis. For example, forehead chorea usually suggests Huntington’s disease; feeding dystonia suggests neuroacanthocytosis and risus sardonicus is commonly seen in Wilson’s disease. Dystonic opisthotonus has been described as a characteristic feature of neurodegeneration with brain iron accumulation (NBIA) related to PANK2 and PLA2G6 mutations. Case report: We describe two additional patients in their 30s with severe extensor truncal dystonia causing opisthotonic posturing in whom evaluation revealed the diagnosis of NBIA confirmed by genetic testing. Discussion: Dystonic opisthotonus may be more common in NBIA than it is reported and its presence especially in a young patient should alert the neurologists to a possibility of probable NBIA.