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Case Reports
. 2019 Aug 21:9.
doi: 10.7916/tohm.v0.683. eCollection 2019.

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

Sahil Mehta  1 , Vivek Lal  1
Affiliations
Case Reports

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

Sahil Mehta et al. Tremor Other Hyperkinet Mov (N Y). .

Abstract

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.

Keywords: Opisthotonus; botulinum toxin; dystonia; genetics; neurodegeneration with brain iron accumulation; phenomenology; secondary.

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Conflict of interest statement

Funding: None. Conflicts of Interest: The authors report no conflicts of interest. Ethics Statement: All patients that appear on video have provided written informed consent; authorization for the videotaping and for publication of the videotape was provided.

Figures

Figure 1
Figure 1
Magnetic Resonance Imaging of the brain. (A–D) MRI Brain Showing Iron Deposition in Bilateral Globus Pallidus on SWI and T2W Images Depicting “Eye of the Tiger Sign.”
See this image and copyright information in PMC

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