Objective: Antiphospholipid Syndrome (APLS) is a hypercoagulable state characterized by arterial or venous thrombosis and/or pregnancy morbidity with laboratory evidence of antiphospholipid antibodies. Movement disorders occur in a minority of patients with APLS, most commonly chorea. Parkinsonism, hemidystonia, and hemiballism have been reported more rarely. Here, we report a case of APLS presenting with craniocervical dystonia, aphasia, encephalopathy, and psychotic symptoms.

Background: A 76 year old woman with a history of coronary artery disease and basal cell carcinoma was admitted to the neurology service after four months of progressive cognitive decline, insomnia, gait dysfunction, auditory/visual hallucinations, and hyperkinetic movements described as “restless” by her family. At onset, she was diagnosed with a pulmonary embolus secondary to deep venous thrombosis and began anticoagulation. She subsequently started antipsychotics for hallucinations and agitation. Diagnoses of conversion disorder, dementia, and tardive dyskinesia had been considered.

Methods: She was evaluated with neurological examination, laboratory studies, lumbar puncture, EEG, brain CT and MRI/MRA, abdominal, pelvis, and chest CT, pelvic ultrasound, and whole body PET.

Results: On exam, she was nonverbal and unable to follow commands. She exhibited orofacial dystonic movements including jaw opening, lip pursing, and blepharospasm. She had left torticollis and phasic shoulder elevation bilaterally, as well as continual agitated and semi-purposeful movements in her limbs that did not appear choreiform. Abnormal movements did not improve with discontinuation of antipsychotic medications. MRI brain at admission showed subacute strokes in the left caudate and bilateral centrum semiovale. LP and EEG were unremarkable. She was diagnosed with APLS after laboratory studies revealed positive cardiolipin and beta-2-glycoprotein antibodies as well as positive lupus anticoagulant. She began IV solumedrol and transitioned to prednisone and mycophenolate mofetil, with gradual improvement in cognition, aphasia, and marked improvement of her dystonia. At a follow-up appointment three months later, her movement disorder had completely resolved.

Conclusions: APLS should be considered in a patient with progressive cognitive decline and hyperkinetic movements, even in the absence of definite chorea.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/antiphospholipid-syndrome-presenting-with-craniocervical-dystonia-a-case-study/