Systemic lupus erythematosus combined with chorea is relatively rare in China,and there are no unified diagnostic criteria or specific ancillary tests.Therefore,it is confirmed by exclusionary clinical diagnosis.To improve the understanding of this disease among rheumatologists,we report the clinical data of a patient with systemic lupus erythematosus combined with chorea admitted to the Department of Rheumatology and Immunology in the First Affiliated Hospital of Jinan University in January 2022.Furthermore,we review the relevant literature in the past 10 years and summarize the clinical features of these cases.
Humans ; Chorea/diagnosis* ; Lupus Erythematosus, Systemic/complications* ; China ; Hospitalization ; Hospitals

Chorea/etiology* ; Humans ; Lupus Erythematosus, Systemic/diagnosis* ; Phototherapy

BACKGROUNDParoxysmal kinesigenic dyskinesia (PKD) is the most common subtype of paroxysmal dyskinesias and is caused by mutations in PRRT2 gene. The majority of familial PKD was identified to harbor PRRT2 mutations. However, over two-third of sporadic PKD patients did not carry anyPRRT2 mutation, suggesting an existence of additional genetic mutations or possible misdiagnosis due to clinical overlap.

METHODSA cohort of 28 Chinese patients clinically diagnosed with sporadic PKD and excluded PRRT2 mutations were recruited. Clinical features were evaluated, and all subjects were screened for MR-1, SLC2A1, and CLCN1 genes, which are the causative genes of paroxysmal nonkinesigenic dyskinesia (PNKD), paroxysmal exertion-induced dyskinesia, and myotonia congenita (MC), respectively. In addition, 200 genetically matched healthy individuals were recruited as controls.

RESULTSA total of 16 genetic variants including 4 in MR-1 gene, 8 in SLC2A1 gene, and 4 in CLCN1 gene were detected. Among them, SLC2A1 c.363G>A mutation was detected in one case, and CLCN1 c.1205C>T mutation was detected in other two cases. Neither of them was found in 200 controls as well as 1000 Genomes database and ExAC database. Both mutations were predicted to be pathogenic by SIFT and PolyPhen2. The SLC2A1 c.363G>A mutation was novel.

CONCLUSIONSThe phenotypic overlap may lead to the difficulty in distinguishing PKD from PNKD and MC. For those PRRT2- negative PKD cases, screening of SLC2A1 and CLCN1 genes are useful in confirming the diagnosis.

Adolescent ; Adult ; Child ; Chloride Channels ; genetics ; Chorea ; genetics ; Dystonia ; diagnosis ; genetics ; Female ; Glucose Transporter Type 1 ; genetics ; Humans ; Male ; Membrane Proteins ; genetics ; Muscle Proteins ; genetics ; Mutation ; Myotonia Congenita ; genetics ; Nerve Tissue Proteins ; genetics

A 68-year-old woman with poorly controlled diabetes mellitus presented to the emergency department with choreoathetoid movements affecting the upper and lower left limbs. Computed tomography of the brain did not show any intracranial abnormalities. However, subsequent magnetic resonance (MR) imaging of the brain revealed an increased T1 signal in the right basal ganglia, raising the suspicion of nonketotic hyperglycaemic chorea-hemiballismus. Management consisted of adjusting her insulin dose to achieve good glycaemic control. The patient subsequently recovered and was discharged after eight days. There are many causes of basal ganglia T1 hyperintensity, including hyperglycaemia in patients with poorly controlled diabetes mellitus. This case emphasises the importance of MR imaging in the early diagnosis of hyperglycaemia as a cause of chorea-hemiballismus, to enable early treatment and a better clinical outcome.
Aged ; Brain ; diagnostic imaging ; Chorea ; diagnosis ; etiology ; Diagnosis, Differential ; Dyskinesias ; diagnosis ; etiology ; Female ; Humans ; Hyperglycemia ; complications ; diagnosis ; Magnetic Resonance Imaging ; methods ; Tomography, X-Ray Computed ; methods

The differential diagnosis of chorea can be challenging in patients without a family history of Huntington's disease or acute-onset hemichorea with stroke. A 50-year-old woman presented with generalized choreic movements and gait disturbance that first appeared 1 month previously. An extensive diagnostic workup including genetic testing, neuroimaging, and various laboratory investigations revealed that this patient had developed chorea as a result of mercury poisoning. She was treated successfully with chelation therapy.
Chelation Therapy ; Chorea ; Diagnosis, Differential ; Female ; Gait ; Genetic Testing ; Humans ; Huntington Disease ; Mercury Poisoning ; Neuroimaging ; Stroke

The differential diagnosis of chorea can be challenging in patients without a family history of Huntington's disease or acute-onset hemichorea with stroke. A 50-year-old woman presented with generalized choreic movements and gait disturbance that first appeared 1 month previously. An extensive diagnostic workup including genetic testing, neuroimaging, and various laboratory investigations revealed that this patient had developed chorea as a result of mercury poisoning. She was treated successfully with chelation therapy.
Chelation Therapy ; Chorea ; Diagnosis, Differential ; Female ; Gait ; Genetic Testing ; Humans ; Huntington Disease ; Mercury Poisoning ; Neuroimaging ; Stroke

Child ; Chorea ; physiopathology ; Dyskinesias ; diagnosis ; physiopathology ; Humans ; Polysomnography ; methods ; Sleep ; physiology

Paroxysmal non-kinesigenic dyskinesia is a very rare movement disorder. Few cases have been reported in the literature so far. We present a 40-year-old man with non-kinesigenic paroxysmal dyskinesia, which was initially diagnosed as a psychogenic disorder. This case highlights the varied presentation of this condition and an excellent response to clonazepam.
Adult ; Chorea ; diagnosis ; Humans ; Male

BACKGROUND: Deep hypothermic circulatory arrest during repair of aortic arch anomalies may induce neurological complications or myocardial injury. So we surveyed if the regional cerebral and myocardial perfusion might eliminate those potential side effects. MATERIAL AND METHOD: From March 2000 to December 2004, 62 neonates or infants with aortic arch anomaly underwent one stage biventricular repair using the regional perfusion technique by single surgeon. Preoperative diagnosis of the arch anomaly consisted of coarctation (n=46), interruption of the aorta (n=12), hypoplastic left heart syndrome (n=2) and truncus areteriosus (n=2). Combined anomalies were ventricular septal defect (n=51), TAPVR (n=1), PAPVR (n=1) and atrioventricular septal defect (n=2). Arterial cannula was inserted at the innominate artery. RESULT: The mean regional perfusion time of brain was 28+/-10 min. Operative mortality rates was 0 (0/62). Late death was 1 (1/62) during 11+/-7 months of follow-up. Neurologic complications consisted of transient chorea in 1 case. There was no reoperation associated with arch anolamy. Pulmonary complication associated with arch repair occurred in 1 case which was managed by aortopexy. CONCLUSION: One-stage arch repair using the regional prefusion is safe and effective in minimizing the neurologic and myocardial complications.
Aorta ; Aorta, Thoracic* ; Brachiocephalic Trunk ; Brain ; Catheters ; Chorea ; Circulatory Arrest, Deep Hypothermia Induced ; Diagnosis ; Follow-Up Studies ; Heart Septal Defects, Ventricular ; Humans ; Hypoplastic Left Heart Syndrome ; Hypothermia ; Infant ; Infant, Newborn ; Mortality ; Perfusion* ; Regional Blood Flow ; Reoperation ; Scimitar Syndrome

Distinguishing epileptic seizure from non-epileptic seizure is a common diagnostic problem. Neurogenic or cardiac syncope can appear similar to atonic and even convulsive seizures. Classic migraine and transient ischemic attacks may also resemble epileptic seizures. Sleep disorders including REM sleep behavior disorder, nocturnal paroxysmal dystonia, and narcolepsy likewise simulate an epileptic seizure. Movement disorders such as paroxysmal dyskinesia can be misinterpreted as epileptic seizures (reflex epilepsy or myoclonic seizures). Psychogenic seizures are often misdiagnosed as an intractable epilepsy. Prior to the definitive diagnosis of epilepsy, possible non-epileptic seizures should be excluded. For the correct decision, a thorough and systematic history taking is important. In addition, EEG, pseudoseizure induction test, head-up tilt test, EKG, sleep studies, and video-EEG monitoring may be necessary. Misdiagnosis of non-epileptic seizures as epilepsy may result in unnecessary anti-epileptic drug use. At the same time, we should let the patients understand what the epilepsy is and that epilepsy is a treatable disease.
Chorea ; Diagnosis ; Diagnostic Errors ; Drug Resistant Epilepsy ; Electrocardiography ; Electroencephalography ; Epilepsy* ; Humans ; Ischemic Attack, Transient ; Linear Energy Transfer ; Migraine with Aura ; Movement Disorders ; Narcolepsy ; Nocturnal Paroxysmal Dystonia ; REM Sleep Behavior Disorder ; Seizures* ; Sleep Wake Disorders ; Syncope