Objective: To explore the clinical and genetic characteristics of children with dopa-responsive dystonia (DRD) caused by tyrosine hydroxylase (TH) gene variations. Methods: Clinical data of 9 children with DRD caused by TH gene variations diagnosed in the Department of Children Rehabilitation, the Third Affiliated Hospital of Zhengzhou University from January 2017 to August 2022 were retrospectively collected and analyzed, including the general conditions, clinical manifestations, laboratory tests, gene variations and follow-up data. Results: Of the 9 children with DRD caused by TH gene variations, 3 were males and 6 were females. The age at diagnosis was 12.0 (8.0, 15.0) months. The initial symptoms of the 8 severe patients were motor delay or degression. Clinical symptoms of the severe patients included motor delay (8 cases), truncal hypotonia (8 cases), limb muscle hypotonia (7 cases), hypokinesia (6 cases), decreased facial expression (4 cases), tremor (3 cases), limb dystonia (3 cases), diurnal fluctuation (2 cases), ptosis (2 cases), limb muscle hypertonia (1 case) and drooling (1 case). The initial symptom of the very severe patient was motor delay. Clinical symptoms of the very severe patient included motor delay, truncal hypotonia, oculogyric crises, status dystonicus, hypokinesia, decreased facial expression, and decreased sleep. Eleven TH gene variants were found, including 5 missense variants, 3 splice site variants, 2 nonsense variants, and 1 insertion variant, as well as 2 novel variants (c.941C>A (p.T314K), c.316_317insCGT (p.F106delinsSF)). Nine patients were followed up for 40 (29, 43) months, and no one was lost to follow-up. Seven of the 8 severe patients were treated by levodopa and benserazide hydrochloride tablets and 1 severe patient was treated by levodopa tablets. All the severe patients responded well to levodopa and benserazide hydrochloride tablets or levodopa tablets. Although the weight of the patients increased and the drug dosage was not increased, the curative effect remained stable and there was no obvious adverse reaction. One severe patient developed dyskinesia in the early stage of treatment with levodopa and benserazide hydrochloride tablets and it disappeared after oral administration of benzhexol hydrochloride tablets. Until the last follow-up, motor development of 7 severe patients returned to normal and 1 severe patient still had motor delay due to receiving levodopa and benserazide hydrochloride tablets for only 2 months. The very severe patient was extremely sensitive to levodopa and benserazide hydrochloride tablets and no improvement was observed in this patient. Conclusions: Most of the DRD caused by TH gene variations are severe form. The clinical manifestations are varied and easily misdiagnosed. Patients of the severe patients responded well to levodopa and benserazide hydrochloride tablets or levodopa tablets, and it takes a long time before full effects of treatment become established. Long-term effect is stable without increasing the drug dosage, and no obvious side effect is observed.
Female ; Humans ; Infant ; Male ; Benserazide/therapeutic use* ; Dystonia/genetics* ; Hypokinesia/drug therapy* ; Levodopa/pharmacology* ; Muscle Hypotonia ; Retrospective Studies ; Tyrosine 3-Monooxygenase/genetics*

Systemic lupus erythematosus (SLE) is a chronic autoimmune disorder of an unknown origin. The role of leptospirosis as a triggering factor for SLE is unknown. This paper reports an uncommon case of SLE following a leptospira infection. A 29-year-old female was referred due to fevers, myalgia, and facial edema with rash. Laboratory investigations revealed a hepatic dysfunction, significantly raised lactate dehydrogenase with marked leukopenia and thrombocytopenia. A diagnosis of leptospirosis was confirmed. The patient was treated with antibiotic therapy for leptospirosis. She developed dyspnea after one week. The echocardiogram revealed global hypokinesia with a decreased ejection fraction. A positivity of antinuclear, anti-DNA, and anti-Smith antibodies, together with clinical and laboratory improvement by steroid therapy, led to the diagnosis of SLE. This case highlights the presence of concurrent SLE and leptospirosis. As the symptoms of SLE are similar to leptospirosis, accurate diagnosis through high suspicion is essential for appropriate treatment.
Adult ; Antibodies ; Diagnosis ; Dyspnea ; Edema ; Exanthema ; Female ; Fever ; Humans ; Hypokinesia ; L-Lactate Dehydrogenase ; Leptospira ; Leptospirosis* ; Leukopenia ; Lupus Erythematosus, Systemic* ; Myalgia ; Myocarditis ; Thrombocytopenia

BACKGROUND: Parkinson's disease (PD) is one of the most common neurodegenerative diseases. However, the history of PD and famous persons with PD have not been described in detail yet. METHODS: We summarized the history of PD before the first description of James Parkinson's. The four famous patients who were suspected or diagnosed with PD were reviewed through peer-reviewed journals as well as biographies, books, and media. RESULTS: Before the definition of PD was established, there were descriptions of various Parkinsonian symptoms in several literatures. The diagnoses of Adolf Hitler and Na Hyeseok are not certain and we only suspect that they had parkinsonism. The diagnoses of PD of the Pope John Paul II and Muhammad Ali are certain as they had medical records as well as video records that shows progressive deterioration. CONCLUSIONS: Even before James Parkinson, PD have been recognized and described focusing on the bradykinesia and tremor. We should keep in mind that detailed examination as well as transcriptions are important, and that long-term follow-up is needed to document or differentiate PD and its mimics.
Diagnosis ; Famous Persons ; Follow-Up Studies ; Humans ; Hypokinesia ; Medical Records ; Neurodegenerative Diseases ; Parkinson Disease ; Parkinsonian Disorders ; Tremor

The current body of literature contains 5 reports of myotonic dystrophy (DM) with parkinsonism: 4 reports of DM type 2 and 1 report of clinically suspected DM type 1. To date, there have been no genetically proven cases of DM type 1 with parkinsonism. Here, we report the first case of genetically proven DM type 1 and parkinsonism that developed ahead of muscle symptoms with bilateral putaminal, presynaptic dopaminergic deficits on imaging. A 54-year-old female patient presented with bradykinesia, axial and bilateral limb rigidity, stooped posture, and hypomimia, which did not respond to levodopa. At age 56, she developed neck flexion weakness. Examination showed bilateral facial weakness, percussion and grip myotonia, and electromyography confirmed myotonic discharges. A genetic study of DM type 1 showed a DMPK mutation. At age 58, gait freezing, postural instability, and frequent falling developed and did not respond to increasing doses of levodopa. At age 59, the patient died from asphyxia.
Accidental Falls ; Asphyxia ; Electromyography ; Extremities ; Female ; Freezing ; Gait ; Hand Strength ; Humans ; Hypokinesia ; Levodopa ; Middle Aged ; Myotonia ; Myotonic Dystrophy ; Neck ; Parkinsonian Disorders ; Percussion ; Posture

BACKGROUND: Evaluation of acute chest pain in emergency department (ED), using limited resource and time, is still very difficult despite recent development of many diagnostic tools. In this study, we tried to determine the applicability of new semi-automated cardiac function analysis tool, velocity vector imaging (VVI), in the evaluation of the patients with acute chest pain in ED. METHODS: We prospectively enrolled 48 patients, who visited ED with acute chest pain, and store images to analyze VVI from July 2005 to July 2007. RESULTS: In 677 of 768 segments (88%), the analysis by VVI was feasible among 48 patients. Peak systolic radial velocity (V(peak)) and strain significantly decreased according to visual regional wall motion abnormality (V(peak), 3.50 ± 1.34 cm/s for normal vs. 3.46 ± 1.52 cm/s for hypokinesia, 2.51 ± 1.26 for akinesia, p < 0.01; peak systolic radial strain -31.74 ± 9.15% fornormal, -24.33 ± 6.28% for hypokinesia, -20.30 ± 7.78% for akinesia, p < 0.01). However, the velocity vectors at the time of mitral valve opening (MVO) were directed outward in the visually normal myocardium, inward velocity vectors were revealed in the visually akinetic area (V(MVO), -0.85 ± 1.65 cm/s for normal vs. 0.10 ± 1.46 cm/s for akinesia, p < 0.001). At coronary angiography, V(MVO) clearly increased in the ischemic area (V(MVO), -0.88+1.56 cm/s for normal vs. 0.70 + 2.04 cm/s for ischemic area, p < 0.01). CONCLUSION: Regional wall motion assessment using VVI showed could be used to detect significant ischemia in the patient with acute chest pain at ED.
Chest Pain* ; Coronary Angiography ; Emergencies* ; Emergency Service, Hospital* ; Humans ; Hypokinesia ; Ischemia ; Mitral Valve ; Myocardium ; Prospective Studies ; Thorax*

OBJECTIVE: Patients with drug-induced parkinsonism (DIP) may have nigrostriatal dopaminergic degeneration. We studied the clinical features that may indicate nigrostriatal dopaminergic degeneration in patients with DIP. METHODS: Forty-one DIP patients were classified into normal and abnormal [¹⁸F] FP-CIT scan groups. Differences in 32 clinical features and drug withdrawal effects were studied. RESULTS: Twenty-eight patients had normal (Group I) and 13 patients had abnormal (Group II) scans. Eight patients of Group I, but none of Group II, had taken calcium channel blockers (p = 0.040). Three patients of Group I and six of Group II had hyposmia (p = 0.018). After drug withdrawal, Group I showed greater improvement in Unified Parkinson's Disease Rating Scale total motor scores and subscores for bradykinesia and tremors than Group II. Only hyposmia was an independent factor associated with abnormal scans, but it had suboptimal sensitivity. CONCLUSION: None of the clinical features were practical indicators of nigrostriatal dopaminergic degeneration in patients with DIP.
Calcium Channel Blockers ; Dopamine Plasma Membrane Transport Proteins ; Humans ; Hypokinesia ; Parkinson Disease ; Parkinsonian Disorders* ; Positron-Emission Tomography ; Tremor

OBJECTIVE: Parkinsonism and other movement disorders have previously been reported in the acquired hepatocerebral degeneration associated with portosystemic shunting. However, there is no study to date about their prevalence as has been noted in general practice. METHODS: One hundred and forty-three patients with hepatic cirrhosis from the gastroenterology clinic and internal medicine wards were enrolled. Liver data included the diagnoses, etiologies, assessments of complications, and treatments for cirrhosis. Hepatic encephalopathy was classified with regard to the West Haven criteria for semi-quantitative grading for mental status. Neurological examination results and abnormal involuntary movements were recorded as primary outcomes. Neuro-radiology was used for the detection of severe brain lesions. RESULTS: Alcoholism was the most common cause of liver cirrhosis. Eighty-three patients (58%) presented with movement disorders. Asterixis was found in one of the cases. The most common movement disorder seen was an intentional tremor at 37.1%, which was followed by bradykinesia, Parkinsonism, and postural tremors at 29.4%, 10.5%, and 6.3%, respectively. The prevalence of movement disorders simultaneously increased with a high Child-Turcotte-Pugh score. The hepatic encephalopathy was grade 1 and 2. With the inclusion of age-range adjustments, we found that alcoholic cirrhosis and hepatic encephalopathy are statistically significant factors [p < 0.05, odds ratio (OR) = 6.41, 95% confidence interval (CI) 1.38-29.71 and p < 0.001, OR = 13.65, 95% CI 4.71-39.54] for the development of movement disorders in non-Wilsonian cirrhotic patients. CONCLUSIONS: Intentional tremor is a common abnormal movement. Alcoholic cirrhosis and hepatic encephalopathy are significant risk factors in the development of movement disorders in non-Wilsonian cirrhotic patients.
Alcoholism ; Brain ; Diagnosis ; Dyskinesias ; Fibrosis ; Gastroenterology ; General Practice ; Hepatic Encephalopathy ; Hepatolenticular Degeneration ; Humans ; Hypokinesia ; Internal Medicine ; Liver ; Liver Cirrhosis ; Liver Cirrhosis, Alcoholic ; Movement Disorders* ; Neurologic Examination ; Odds Ratio ; Parkinsonian Disorders ; Portasystemic Shunt, Surgical ; Prevalence* ; Risk Factors* ; Schools, Medical* ; Tremor

A 70-year-old woman underwent cardiopulmonary bypass surgery for aorta dissection. After 10 days she developed a vertical gaze palsy, and 2 months later she presented with dysarthria, bradykinesia, postural instability, blepharospasm, and truncal tilt to the left. Brain imaging indicated old lacunes in the bilateral thalamus. Her symptoms remained unchanged during a 4-year follow-up, which seems to be incompatible with progressive supranuclear palsy (PSP). However, the clinical features of this case were suggestive of PSP-like syndrome after cardiopulmonary bypass surgery.
Aged ; Aorta* ; Blepharospasm ; Cardiopulmonary Bypass ; Dysarthria ; Female ; Follow-Up Studies ; Humans ; Hypokinesia ; Neuroimaging ; Paralysis ; Parkinsonian Disorders ; Supranuclear Palsy, Progressive ; Thalamus

A 65-year-old female visited us due to gait disturbance. A neurological examination showed cognitive impairment, dystonia, myoclonus, bradykinesia, postural instability, and freezing of gait (FOG). She was diagnosed with extrapontine myelinolysis based on her history of hyponatremia and high signal intensities (HSIs) in both striata on T2-weighted images. Her neurological problems including FOG improved over 25 days. In a follow-up MRI 50 days after the onset, HSIs disappeared in the striata but new ones appeared in the pons. FOG may have been related to striatal dysfunction in this patient.
Aged ; Cognition Disorders ; Dystonia ; Female ; Follow-Up Studies ; Freezing* ; Gait* ; Humans ; Hypokinesia ; Hyponatremia ; Magnetic Resonance Imaging ; Myelinolysis, Central Pontine* ; Myoclonus ; Neurologic Examination ; Pons ; Weather

Rarely, a paraganglioma can lead to disastrous cardiac complications such as heart failure, cardiomyopathy, or myocardial infarction and inflammatory complications such as sepsis. We describe a 41-year-old man who developed severe dilated cardiomyopathy with cardiogenic shock and sepsis who had a paraganglioma in the retroperitoneum. Echocardiography showed extensive global hypokinesia with severe left ventricular systolic dysfunction. In addition, leukocytosis with elevated inflammatory markers and positive blood cultures indicated sepsis. Abdominal enhanced computed tomography and magnetic resonance imaging showed a large heterogeneous mass with cystic changes in the retroperitoneum. Serum and urine samples indicated elevated levels of catecholamine and its metabolites, and a 131I-meta-iodobenzylguanidine (MIBG) scan indicated uptake of MIBG. After intensive medical treatment and surgical removal of the paraganglioma, the dilated cardiomyopathy and sepsis resolved. The diagnosis of paraganglioma should be considered in patients presenting with acute heart failure or sepsis of nonspecific origin.
3-Iodobenzylguanidine ; Adult ; Cardiomyopathies ; Cardiomyopathy, Dilated* ; Diagnosis ; Echocardiography ; Heart Failure ; Humans ; Hypokinesia ; Leukocytosis ; Magnetic Resonance Imaging ; Myocardial Infarction ; Paraganglioma* ; Pheochromocytoma ; Sepsis* ; Shock, Cardiogenic*