To present a case of a Puerto Rican woman with Chorea-Acanthocytosis positive for VSP13A gene variant presenting with severe pelvic movements.

Chorea-Acanthocytosis is an autosomal recessive inherited neurodegenerative disorder originated from variants of the VPS13A gene. It is characterized by clinical features that may include chorea, tics, parkinsonism, dystonia, speech disturbances, and epilepsy. Most case reports of Puerto Rican descent have been reported in the United States.

We present the case of a 41-year-old Puerto Rican woman with unusual involuntary movements and mutism. At onset she developed irritability and generalized choreiform movements that worsened over the years. There is family history of undiagnosed involuntary movements and family consanguinity. Clinical symptoms worsened to non-verbal communication, dysphagia, additional behavioral changes, and involuntary movements. Neurological examination showed choreiform movements, orofacial movements and blepharospasm. She presented forceful, brisk and disabling movements of the pelvis and neck present while lying down and worsened with activity. Genetic test for Huntington disease was negative, repeated blood smear did not show acanthocytes. CPK was mildly elevated, liver enzymes and serum ceruloplasmin levels were normal. CSF analysis was unremarkable. Autoimmune encephalitis was suspected and she received a course of IVIG without benefit. EEG was normal. Brain MRI showed abnormal signal intensity of bilateral gray matter involving putamen and caudate nuclei with associated ex vacuo dilation of frontal horns and lateral ventricles. Genetic testing was positive for autosomal recessive homozygous VSP13A gene variant.

This case illustrates the variable presentation of chorea-acanthocytosis and emphasizes the importance of early recognition and timely genetic testing among Hispanic patients presenting with involuntary movements. Our patient had an uncommon initial presentation with predominant severe pelvic and neck movements making the diagnosis challenging and delayed. An accurate and early diagnosis is important to offer symptomatic treatment, identify potential future complications, and provide genetic counseling.