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Abstract Details

Brain iron and calcium accumulation associated with generalized dystonia and Parkinsonism in a patient with mixed connective tissue disease - a case report
Movement Disorders
P8 - Poster Session 8 (8:00 AM-9:00 AM)
5-032
 To present a case of MCTD with atypical clinical manifestations.
 Mixed connective tissue disease (MCTD) is a rare rheumatic disease. It presents with overlap of different connective tissue disorders and a high titer of anti-RNP. CNS symptoms may be present, like aseptic meningitis and trigeminal neuropathy, for example. We present a rare case of movement disorder associated with this pathology.
 We report a case following CARE guidelines.

 A 38 year female patient presented with progressive hypophonia, dysarthria and gait impairment due to parkinsonism for one month. She had no family history and she had MCTD diagnosed a few months before, for which she used corticotherapy. A MRI was made, showing bilateral hyperintensity in basal ganglia, with a  CSF slight pleocytosis. Infectious panel and laboratory testing for early onset movement disorders, like Wilson disease, was negative. High titers of anti-RNP were detected, so she was treated with intravenous methylprednisolone and cyclophosphamide. She was then treated with mensal immunoglobulin, with gradual clinical improvement. 

 Nonetheless, after a vaccine, she developed jaw closing dystonia,  arm torsional posture and truncal deviation. Her parkinsonism also worsened.  A new MRI showed T1 hyperintensities and SWI hypointensities in corona radiata, basal ganglia, substantia nigra, pons and cerebellum, suggesting accumulation of paramagnetic material, calcium and necrosis. HER CT showed calcification associated in all areas, except in globus pallidus and substantia nigra. Her whole exome testing was negative. Her FDG PET showed low uptake in bilateral frontal regions, basal ganglia, cerebellum and brainstem. A whole exome test was negative. We opted to start rituximab, with gradual gait and dystonia partial improvement. 


 MCTD is a rare but treatable cause of neurological impairment, and may present with atypical clinical features. Here, we present one of the few cases of MCTD presenting with a movement disorder and atypical changes in the MRI.
Authors/Disclosures
Matheus Alves A. Silva, MD (Beneficiencia Portuguesa)
PRESENTER
Dr. Silva has nothing to disclose.
Amanda M. Mendonca Miss Mendonca has nothing to disclose.
Eduardo Mesquita De Souza, MD Dr. MESQUITA DE SOUZA has nothing to disclose.
Ana luisa F. Donadon, MD Mrs. Donadon has nothing to disclose.
Rafael B. Matias, Sr. Mr. Matias has nothing to disclose.
Alex A. Fernandes, MD Dr. Fernandes has nothing to disclose.
Matheus L. Munareto, MD Mr. Munareto has nothing to disclose.
Victor Hugo R. Marussi, Sr., MD Dr. Marussi has nothing to disclose.
Alex Baeta Alex Baeta has nothing to disclose.