Hussain Taimoor, Wali Ahmad, Hafizyar Farukhzad, Eimal Latif Abdul Habib, Joyce John, Walizada Khalida, Malik Sheza, Mushtaq Zahra
Neurology, Bolan Medical College, Quetta, PAK.
Neurology/Neurophysiology, Bolan Medical Complex Hospital, Quetta, PAK.
Cureus. 2021 Jun 28;13(6):e15992. doi: 10.7759/cureus.15992. eCollection 2021 Jun.
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 C and C 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.
舞蹈症由多种情况引起，包括遗传、代谢紊乱、感染、药物、毒素、肿瘤以及身体免疫和炎症系统的疾病。亨廷顿舞蹈症（HD）是舞蹈症最常见的遗传病因。系统性红斑狼疮（SLE）是一种自身免疫性疾病。常见症状包括口腔溃疡、关节疼痛、颊部或盘状皮疹、光敏性和血液系统异常。它可累及心脏、肺、肾脏和大脑。SLE可导致神经精神症状，如精神病、癫痫发作、头痛、意识模糊和中风。舞蹈症是SLE的一种已知症状。现在人们认识到HD涉及多个系统，并与多种合并症相关。我们报告了首例与SLE相关且因SLE而加重的遗传性舞蹈样障碍病例。这也是来自巴基斯坦俾路支省的可能的亨廷顿舞蹈症的首例病例报告。我们报告一名19岁患有舞蹈样障碍且有舞蹈症家族史的女孩。舞蹈样障碍存在于她的祖母和叔叔身上。她出现发热、咳嗽，上下肢舞蹈样动作加重10天。她还主诉手脚小关节疼痛、口腔溃疡、脱发以及舞蹈样动作加重两个半月。对HD、威尔逊病和其他类型的遗传性舞蹈症进行了可能的鉴别诊断，这些疾病因感染、SLE或新冠病毒-19而加重。她最初的实验室检查结果显示全血细胞减少、D-二聚体和血清铁蛋白升高、抗核抗体（ANA）阳性以及抗双链DNA（抗dsDNA）阳性。她的C和C补体因子较低。其余实验室检查结果，包括聚合酶链反应（PCR）冠状病毒病（COVID-19）、血培养和疟疾检查均为阴性。因此，诊断为与SLE相关且因SLE而加重的遗传性舞蹈症。遗传性舞蹈样障碍可与SLE等自身免疫性疾病相关并因之加重。因此，建议保持警惕，对于患有遗传性舞蹈样障碍的患者，在诊断并存的自身免疫性疾病如SLE时保持较低的阈值。
