Feeding dystonia, chorea, psychosis, and self-mutilation in an African patient with neuroacanthocytosis syndrome

On examination, the patient was cachectic, drooling her saliva, and had multiple injuries and scars on her tongue, lower lips, and arms caused by self-biting ( figure); she had abnormal—primarily choreatic—movements of her trunk and oromandibular region, involuntary vocalisations, and vocal tics ( video 1). Initially, we prescribed oral haloperidol with no response; she was switched to oral risperidone and tetrabenazine resulting in some improvement in both psychiatric and motor symptoms. The patient's condition continued to deteriorate, with significant weight loss and worsening of both motor and psychiatric symptoms. VPS13A disease—previously known as Chorea-acanthocytosis—is an autosomal recessive condition resulting from mutations in the VPS13A gene, which encodes a lipid transfer protein.