ABSTRACT
El Síndrome de Tourette es un trastorno frecuente en niños y adolescentes, y cada vez más reconocido en nuestro medio. Tiene una asociación establecida con otras comorbilidades como el síndrome de déficit atencional y el trastorno obsesivo compulsivo. En esta revisión se analizan nuevos avances en la comprensión de su fisiopatología y las nuevas alternativas terapéuticas disponibles.
Subject(s)
Humans , Tourette Syndrome/physiopathology , Tourette Syndrome/therapy , Tics/classification , Tic Disorders/drug therapy , Tic Disorders/therapySubject(s)
Humans , Female , Aged , Chlormezanone , Confusion , Chlormezanone , Muscle Relaxants, Central , Cholinergic Antagonists/adverse effectsSubject(s)
Humans , Male , Female , Parkinson Disease , Amantadine , Antiparkinson Agents , Dopamine Agonists , Levodopa , SelegilineABSTRACT
Chronic hepatic encephalopathy (CHE) is a disabling complication of chronic liver failure and porto-systemic shunt.The pathogenesis of CHE remains unclear but increased levels of ammonia are a basic feature. Several clinical and experimental observations support a role for manganese (Mn) in the pathogenesis of this disorder. Increased blood levels of Mn have been described in patients with CHE and this could lead to its accumulation on the basal ganglia and characteristic hyperintensities of basal ganglia as seen on magnetic resonance imaging (MRI) of the brain. We report on the clinical features and characteristic radiologic findings of a patient who presented with the neurologic syndrome of CHE and who had very high blood levels of Mn in the absence of an occupational exposure to this metal. Our report supports the hypothesis that Mn has a role in the pathogenesis of CHE and also suggests that brain MRI is a useful marker of the brain metabolic repercusion due to CHE
Subject(s)
Humans , Female , Middle Aged , Basal Ganglia , Manganese , Hepatic Encephalopathy/etiology , Chronic Disease , Neomycin , Parkinsonian Disorders , Manganese , Myoclonus , Nervous System Diseases , Ammonia/blood , Hepatic Encephalopathy/diagnosis , Hepatic Encephalopathy/physiopathologyABSTRACT
El síndrome de piernas inquietas (SPI) se caracteriza por una sensación desagradable en las piernas que lleva a la imperiosa necesidad de moverlas, ocurre en reposo y es de preferencia nocturna. Su frecuencia varía entre 2-15 por ciento de la población general adulta y 20-30 por ciento en pacientes urémicos en diálisis. No existe mayor información sobre este cuadro en nuestro medio. Un reciente trabajo nacional da una frecuencia estimativa de 13 por ciento en la población general adulta y 27 por ciento en los pacientes urémicos en diálisis. Objetivo: analizar características clínicas del SPI y recientes avances en su estudio y tratamiento. Se analiza la fisiopatología del síndrome en base a una hipofunción dopaminérgica y las diversas alternativas de sustitución dopaminérgica disponible. En nuestro medio el SPI es tan frecuente como en series internacionales y está subdiagnosticado. Esta revisión enfatiza la necesidad de mayor reconocimiento de esta condición ya que existe terapia farmacológica eficaz
Subject(s)
Humans , Male , Female , Restless Legs Syndrome/epidemiology , Diagnosis, Differential , Dopamine Agonists/therapeutic use , Levodopa/therapeutic use , Polysomnography , Quality of Life , Restless Legs Syndrome/diagnosis , Restless Legs Syndrome/drug therapyABSTRACT
Background: The restless legs syndrome (RLS) is a movement disorder characterized by an imperative urge to move the legs, associated with paraesthesias, motor restlessness and worsening of symptoms at night with at least partial relief by activity. Its prevalence ranges between 2-15 percent of general adult population and 20-30 percent of uremic patients. Aim: To evaluate the frecuency and the clinical features of RLS in a sample of general adult population and in uremic patients, in Chile, correlating it with biochemical parameters. Method: 100 relatives of outpatients and 166 uremic patients undergoing chronic haemodialysis were interviewed assessing the presence and severity of RLS according to current diagnostic criteria. Biochemical parameters assessed were hematocrit, serum ferritin, phosphate, intact parathyroid hormone (iPTH) levels. Results: 13 percent of the general population sample was affected, 15 percent of them were severe. Forty three cases were found among uremic patients (25.9 percent) (p <0.01 vs general population), 60 percent of them were severe and women were affected with higher frequency (p <0.05) and severity (p <0.01). Four patients presented RLS even during hemodialysis. No correlation was found with biochemical parameters. Most RLS cases had not been diagnosed previously. Conclusions: In our population RLS is common and undetected. It is especially prevalent and severe in uremic patients: we found no evidence that anaemia, iron deficiency or iPTH level play a major pathogenic role. Our findings emphasize the need of greater medical awareness of RLS because available therapy may improve the quality of life
Subject(s)
Humans , Male , Female , Adolescent , Adult , Middle Aged , Restless Legs Syndrome/epidemiology , Case-Control Studies , Kidney Diseases/complications , Peripheral Nervous System Diseases/epidemiologyABSTRACT
Background: Tourette's syndrome is a childhood-onset hereditary neurobehavioural disorder believed to occur without geographical restrictions. Although there have been reports of this disorder worldwide just a few are from Latin America. Aim: To report a preliminary experience with a series of 70 patients and to review recent advances in this disorder. Patients and Method: We reviewed patients seen in pediatric and adult neurological clinics in Santiago, Chile, all of whom fulfilled clinical diagnostic criteria for Tourette Syndrome. Results: Seventy patients were studied, 54 males (77.1 percent) and 16 females (22.8 percent), their mean age at first evaluation was 13.6 years (range 2-46). The mean age of onset of symptoms was 6.4 (range 2-20), the mean time of follow-up was 3 years. Fifty-eight patients showed simple motor tics (blinking, facial grimacing, shoulder shrugging), whereas dystonic tics like head jerking were seen in 38 patients, torticollis in 6 and oculogyric movements in 2. Complex motor tics like jumping, antics, trunk bending and head shaking were present in 16 subjects. Vocal tics were predominantly of the simple type: sniffing, throat clearing, blowing, and whistling. Complex vocal tics were seen in 12 patients, five cases showed palilalia, 3 echolalia and only six displayed coprolalia (8.5 percent). Tics were of mild to moderate severity in most patients. Obsessive-compulsive disorder was observed in 22.8 percent and attention deficit and hyperactivity disorder were present in 35.7 percent. Forty-five patients (64.2 percent) had a first degree relative with tics, nine patients (12.8 percent) had a family history of obsessive-compulsive disorder. The current evidence involving desinhibition of cortico-striatum-thalamic-cortical neuronal circuits in the pathogenesis of this disorder is analyzed. Conclusion: Our report supports the recognized clinical homogeneity and genetical basis of TouretteÕs syndrome regardless of geographical region and ethnic origin
Subject(s)
Humans , Male , Female , Child, Preschool , Adolescent , Adult , Tic Disorders/diagnosis , Tourette Syndrome/diagnosis , Basal Ganglia/abnormalities , Echolalia/epidemiology , Haloperidol/administration & dosage , Obsessive-Compulsive Disorder/complications , Attention Deficit and Disruptive Behavior Disorders/epidemiology , Tourette Syndrome/drug therapyABSTRACT
Subacute sclerosing panencephalitis is an infrequent central nervous system viral disease and is a late manifestation of persistent infection by a mutant form of measles virus. Since it affects mainly children and teenagers, the diagnosis in older ages is difficult. Its main clinical symptoms are cognitive impairment, behavioral disturbances and myoclonia. We report two males, aged 21 and 22 years old, presenting with the disease with atypical manifestations. One had a catatonic syndrome and the other, amaurosis. The recognition of the different presentation forms of the disease, endemic in developing countries, allows an earlier diagnosis and a more efficient treatment, when available
Subject(s)
Humans , Male , Adult , Subacute Sclerosing Panencephalitis/etiology , SSPE Virus/pathogenicity , Subacute Sclerosing Panencephalitis/diagnosis , Subacute Sclerosing Panencephalitis/drug therapy , SSPE Virus/drug effects , Inosine Pranobex/therapeutic use , Myoclonus/etiology , Myoclonus/drug therapy , Valproic Acid/therapeutic use , Magnetic Resonance SpectroscopyABSTRACT
We report two women using oral contraceptives, aged 17 and 33 years old, who presented with hemichorea. In both patients all other possible causes of chorea were discarded and the disease disappeared when contraceptives were discontinued. Four months later, the 33 years old patient used again oral contraceptives and chorea reappeared. This rare complication of contraceptive use has been previously reported in young and mainly nulliparous women
Subject(s)
Humans , Female , Adolescent , Adult , Chorea/chemically induced , Contraceptives, Oral/adverse effects , Sulpiride/pharmacology , Chorea/diagnosis , Chorea/drug therapy , Menstruation Disturbances/drug therapyABSTRACT
Wilson disease is an inborn error of copper metabolism that bas neurological and hepatic manifestations. We report a 13 years old girl and a 12 years old boy with Wilson disease. In both patient, brain computed tomography and magnetic resonance imaging showed marked involvement of basal ganglia and other deep gray nuclei. Considering that this is a treatable disease, it should be included in the differential diagnosis of the so called "striatal necrosis of childhood"
Subject(s)
Humans , Male , Female , Adolescent , Hepatolenticular Degeneration , Neuroradiography , Brain Ischemia/diagnosis , Huntington Disease/diagnosis , Cerebrum , Diagnosis, Differential , Carbon Monoxide Poisoning/diagnosis , Neurologic Manifestations , Tomography, X-Ray Computed/methodsABSTRACT
Short latency somatosensory evoked potentials were measured in 10 patients with Parkinson's disease before and after tha administration of Apomorphine 5 mg sc. Eight of these subjects were reassessed after one month of treatment with Levo-dopa. These potentials were measured in other nine subjects before and after one month of treatment with Selegiline 10 mg od. There was a significant increase of frontal potential N30 in nine of 10 subjects that received apomorphine, in seven of 8 patients treated with Levodopa and 7 of 9 patients treated with Selegiline. No changes in N20 parietal potential were observed. During apomorphine test, changes in N30 potential preceded clinical improvement in 6 patients and occurred simultaneously in 3 patients. No changes with apomorphine in N30 potential were observed in 2 healthy males. There was no relationship between electrophysiological changes and duration of disease or motor fluctuations. It is concluded that short latency somatosensory evoked potentials are an objective means of measuring dopaminergic response in patients with Parkinson's disease
Subject(s)
Humans , Male , Female , Adult , Middle Aged , Parkinson Disease/drug therapy , Apomorphine/pharmacokinetics , Evoked Potentials/drug effects , Selegiline/pharmacokinetics , Levodopa/pharmacokineticsABSTRACT
Wilson's disease is an inherited disorder of copper metabolism. We report 16 patients (6 males) with the disease; 6 had hepatic involvement and 3 were asymptomatic. The age onset was 9 years for hepatic and 17 years for neurologic involvement. The mean delay in diagnosis was 14 months. Chronic hepatitis, cirrhosis and fulminant hepatic failure were the clinical forms of liver disease. Patients with neurologic disorders had behavioral disturbances and extrapyramidal manifestations such as dystonia and parkinsonism. Patients had a good response to penicillamine, except 3 that died of liver complications, in whom the treatment was delayed or discontinued. We conclude that this metabolic disease must be suspected in pubertal children and in adults of less than 30 years old with liver disease of unknown origin or behavioral alterations associated to an extrapyramidal syndrome