Objective: The aim of this article is to report a rare case of Huntington’s disease (HD) in a patient with chorea and previous diagnosis of Systemic lupus erythematosus (SLE).

Background: Chorea may be the expression of a wide range of disorders. We herein report a rare case of Huntington’s disease (HD) in a patient with chorea and a previous diagnosis of systemic lupus erythematosus (SLE).

Method: A 35 year-old woman with previous 6-month history of SLE (clinical and serological criteria) was hospitalized due to a severe lupic pneumonitis, which required mechanical ventilation. After sedation withdrawal, involuntary generalized movements were noticed. Chorea associated with SLE was first considered, even though she was already receiving high doses immunosuppressant due to respiratory symptoms. Extensive workup was requested. Laboratory results showed reactive anti-nuclear and anti-dsDNA, while antiphospholipid was negative. Brain MRI was unremarkable

Results: Although clinical and serological parameters were gradually improving, choreic movements continued to worsen. She was referred to our Movement Disorders Outpatient Clinic. Upon evaluation, she had a cushingoid appearance and exhibited generalized choreic movements, involving her head, face and limbs (see video). The first hypothesis was chorea associated with SLE. Surprisingly, however, the patient mentioned that her deceased mother and her sister had Huntington’s disease. Genetic testing confirmed HD, displaying 43 CAG repeats in chromosome 4p.

Conclusion: Huntington’s disease is usually the foremost consideration for a neurologist evaluating adult-onset chorea. Nevertheless, due to the patient’s prior condition, autoimmune etiology was also taken into consideration. To our knowledge, this is the first report of chorea in a patient with both HD and SLE

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MDS Abstracts - https://www.mdsabstracts.org/abstract/all-that-emerge-is-not-lupus/