Objective: To describe the diagnostic value of dystonic opisthotonus as a clinical clue towards a diagnosis of neurodegeneration with brain iron accumulation.

Background: Differential diagnosis of dystonic opisthotonus usually include secondary causes like drugs, neurometabolic disorders (Wilson Disease, Lesch Nyhan Syndrome, Maple syrup urine disease) and Neurodegeneration with brain iron accumulation (NBIA)1,2. Genetic testing is not always possible in such a scenario especially in a resource poor setting. Most of the times, we have to rely on clinical clues to diagnose and manage patients with such complex movement disorders.

Method: We describe two young patients who presented with dystonic opisthotonus and evaluation revealed the diagnosis of NBIA confirmed by genetic testing.

Results: Case 1: A 33-year-old male presented with abnormal posturing of left upper limb and arching of the back for the past 5 years. Family history was non- contributory. Examination revealed severe extensor truncal dystonia with spread to upper limbs and face. Examination was negative for any ocular, pyramidal, cranial nerve or cognitive involvement. On evaluation, T2 hypointense lesions with central hyperintensity in bilateral globus pallidus were found on MRI brain. Genetic analysis revealed a compound heterozygous mutation c.434C>A (p.S145) in the PANK 2 gene. He showed modest response with a combination of oral drugs and periodic botulinum toxin therapy. Case 2: A 34-year-old male presented with 3-year history of severe arching of the back with involuntary closure of eyes. Examination revealed severe dystonic opisthotonus and blepharospasm. There was no history of preceding antipsychotic intake. He had a negative family history with normal ceruloplasmin levels. Nerve conduction studies showed sensorimotor neuropathy. MRI brain revealed iron deposition in bilateral globus pallidus. Genetic analysis revealed a pathogenic variant in PANK 2 gene. He reports modest improvement with oral medications and botulinum toxin injections.

Conclusion: Presence of dystonic opisthotonus especially in a young patient should alert the neurologists to a possibility of NBIA.

References: 1. Stamelou M, Lai SC, Aggarwal A, et al. Dystonic opisthotonus: a “red flag” for neurodegeneration with brain iron accumulation syndromes?. Mov Disord. 2013;28(10):1325-9. 2. Schneider SA, Bhatia KP. Syndromes of neurodegeneration with brain iron accumulation. Semin Pediatr Neurol. 2012;19:57–66.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/dystonic-opisthotonus-a-clinical-clue-to-neurodegeneration-with-brain-iron-accumulation-in-young-adults/