Hereditary Chorea Associated With and Aggravated by Systemic Lupus Erythematosus.

ABSTRACT

Chorea is caused by a number of conditions, including genetic, metabolic derangements, infections, drugs, toxins, tumors, and disorders of the immune and inflammatory system of the body. Huntington's disease (HD) is the most common genetic cause of chorea. Systemic lupus erythematosus (SLE) is an autoimmune condition. Common symptoms include oral ulcers, joint pain, malar or discoid rashes, photosensitivity, and blood dyscrasias. It can involve the heart, lungs, kidneys, and brain. SLE can cause neuropsychiatric manifestations like psychosis, seizures, headache, confusion, and stroke. Chorea is a known symptom of SLE. HD is now recognized to involve more than one system and is associated with a number of comorbid conditions. We report the first case of hereditary choreiform disorder associated with and aggravated by SLE. This is also the first case report of probable Huntington disease from Balochistan, Pakistan. We report a 19-year-old girl with choreiform disorder and a family history of chorea. Choreiform disorder was present in her paternal grandmother and uncles. She presented with fever, cough, and aggravation of choreiform movements of upper and lower limbs for 10 days. She also complained of pain in the small joints of her hands and feet, oral ulcers, hair loss, and aggravation of choreiform movements for two and half months. Probable differential diagnoses of HD, Wilson's disease, and other types of hereditary chorea, aggravated by infections, SLE, or Covid-19, were made. Her initial lab results revealed pancytopenia, increased D-dimers and serum ferritin, positive antinuclear antibodies (ANA), and anti-double-stranded DNA (anti-dsDNA). Her C3 and C4 complement factors were low. The rest of the lab test results, including polymerase chain reaction (PCR) coronavirus disease (COVID-19), blood culture, and malaria, were negative. Thus, a diagnosis of hereditary chorea associated with and aggravated by SLE was made. Hereditary choreiform disorders can be associated with and aggravated by autoimmune conditions like SLE. Thus, it is recommended to be vigilant and have a low threshold for diagnosing co-existing autoimmune conditions like SLE in patients with hereditary choreiform disorder.