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

Mehta, Sahil; Lal, Vivek

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.

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Also Published In

Title
Tremor and Other Hyperkinetic Movements
DOI
https://doi.org/10.7916/tohm.v0.683

More About This Work

Academic Units
Center for Parkinson's Disease and Other Movement Disorders
Published Here
December 13, 2019