Pagină 1 din 96 rezultate
The etiology of dystonia in children is often elusive. We report two children with fever-induced dystonia, an association which has not been previously reported. Both children had episodes of lower extremity dystonia with inversion of the feet and dorsiflexion of the great toes. Events began at 2
Neuroleptic malignant syndrome (NMS) is a rare but potentially fatal complication of the use of certain medications. It is being seen more often in the pediatric population because of the increasing use of both typical and atypical antipsychotics in children. Rapid recognition of NMS is important to
BACKGROUND
Glutaric acidemia type I is one of the least rare organic acidemias. The number of diagnosed causes is however still low because the presentation is variable and often confusing. The disease may sometimes have a slowly progressive course. Typically, it presents in infancy, mimicking acute
The effectiveness and information content of thermography were studied in 20 normal subjects and 40 patients with vegetative vascular dystonia. There were some individuals in the control group who had "thermal amputation" and who also had some specific features of psychovegetative nature. Patients
Glutaric aciduria type I (GA-I) is an inborn error in the degradation of lysine, hydroxylysine, and tryptophan due to a deficiency of glutaryl-CoA dehydrogenase. Glutaric, 3-OH-glutaric, and glutaconic acids are excreted in the urine, particularly during intercurrent illness. The enzyme may be
Rationale: Paroxysmal autonomic instability with dystonia (PAID) is an underdiagnosed syndrome that describes a collection of symptoms following diverse cerebral insults, such as traumatic brain injury, hydrocephalus, hemorrhagic stroke,
Objective: To explore clinical characteristics, treatment, and prognosis of a family with childhood-onset rapid-onset dystonia parkinsonism (RDP) caused by ATP1A3 gene mutation and review literatures. Method: The clinical data of a RDP child, his brother and mother had been analyzed retrospectively.
BACKGROUND
Focal dystonia of acute onset is indicative of a structural lesion in the nervous system. Cerebellar lesions have rarely been associated with dystonia.
METHODS
A 42-year-old woman was admitted to the neurology ward because of fever, confusion, and gait unsteadiness. She was diagnosed as
OBJECTIVE
Paroxysmal sympathetic hyperactivity (PSH) is characterized by episodic, hyperadrenergic alterations in vital signs after traumatic brain injury (TBI). We sought to apply an objective scale to the vital sign alterations of PSH in order to determine whether 1 element might be predictive of
BACKGROUND
Tetrahydrobiopterin (BH
4) deficiencies are disorders affecting phenylalanine homeostasis, and catecholamine and serotonin biosynthesis. GTP-Cyclohydrolase I deficiency (OMIM 600225) is an extremely rare variant of inborn error of BH
4 synthesis
Background: Paroxysmal autonomic instability with dystonia (PAID) syndrome, a subset of dysautonomia, is characterized by paroxysms of marked agitation, diaphoresis, hyperthermia, hypertension, tachycardia and tachypnea accompanied by
Domperidone is a commonly prescribed antiemetic drug but its side effects are rarely seen. Extrapyramidal side effects are a very rare complication of the drug occurring in 1/10,000 population. They usually occur in infants and very young children due to a poorly developed blood-brain barrier. We
Background: The aim of this study was to investigate the genetic and clinical features of dopa-responsive dystonia (DRD) in China. Method: Characteristics of gene mutations and clinical manifestations of 31 patients diagnosed with DRD were analyzed retrospectively. Result: From
Streptococcus pneumoniae is a common cause of bacterial meningitis, frequently resulting in severe neurological impairment. A seven-month-old child presenting with Streptococcus pneumoniae meningoencephalitis developed right basal ganglia and hypothalamic infarctions. Daily episodes of agitation,