Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an autosomal dominant small-vessel disease caused by mutations of the NOTCH3 gene. It typically presents with migraine, recurrent brain ischaemia, and cognitive disorders. Seizures rarely present as the initial manifestation, with non-convulsive status epilepticus being even less frequent. We present a series of 3 related patients with this arteriopathy, 2 of whom presented status epilepticus as a manifestation of the disease.
CADASIL , Leukoencephalopathies , Status Epilepticus , Humans , CADASIL/complications , CADASIL/diagnosis , CADASIL/genetics , Cerebral Infarction , Magnetic Resonance Imaging , Receptor, Notch3/genetics , Status Epilepticus/etiology
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an autosomal dominant small-vessel disease caused by mutations of the NOTCH3 gene. It typically presents with migraine, recurrent brain ischaemia, and cognitive disorders. Seizures rarely present as the initial manifestation, with non-convulsive status epilepticus being even less frequent. We present a series of 3 related patients with this arteriopathy, 2 of whom presented status epilepticus as a manifestation of the disease.
No disponible
Humans , Male , Adult , Spinal Cord Diseases/diagnostic imaging , Sarcoidosis/diagnostic imaging , Magnetic Resonance Imaging
TITLE: Signo del tridente en la neurosarcoidosis medular.
Central Nervous System Diseases/diagnostic imaging , Magnetic Resonance Imaging/methods , Sarcoidosis/diagnostic imaging , Spinal Cord/diagnostic imaging , Adrenal Cortex Hormones/therapeutic use , Adult , Anti-Inflammatory Agents/therapeutic use , Central Nervous System Diseases/drug therapy , Central Nervous System Diseases/pathology , Diagnosis, Differential , Giant Cells/ultrastructure , Granuloma/diagnostic imaging , Histiocytes/ultrastructure , Humans , Male , Neuromyelitis Optica/diagnosis , Sarcoidosis/drug therapy , Sarcoidosis/pathology , Spinal Cord/pathology , Spinal Cord Neoplasms/diagnosis , Tomography, X-Ray Computed
Headache/etiology , Headache/physiopathology , Neck Pain/etiology , Neck Pain/physiopathology , Vertebral Artery Dissection/physiopathology , Vertebral Artery/physiopathology , Adult , Age Factors , Aged , Cerebral Angiography , Diagnosis, Differential , Disease Progression , Early Diagnosis , Female , Headache/pathology , Humans , Ischemic Attack, Transient/etiology , Ischemic Attack, Transient/pathology , Ischemic Attack, Transient/physiopathology , Lateral Medullary Syndrome/etiology , Lateral Medullary Syndrome/pathology , Lateral Medullary Syndrome/physiopathology , Magnetic Resonance Angiography , Male , Middle Aged , Neck Pain/pathology , Predictive Value of Tests , Prognosis , Prospective Studies , Vertebral Artery/diagnostic imaging , Vertebral Artery/pathology , Vertebral Artery Dissection/diagnostic imaging , Vertebral Artery Dissection/pathology
No disponible
Middle Aged , Child , Adolescent , Aged , Aged, 80 and over , Adult , Male , Female , Humans , Angiography , Carotid Artery, Internal , Diagnosis, Differential , Aneurysm , Migraine Disorders
Ischemic optic neuropathy, is an exceptional complication of surgery. Moreover, bilateral and simultaneous visual deficit in ischemic optic neuropathy is very rare. We describe two patients who suffered bilateral and simultaneous ischemic optic neuropathy after elective total hip replacement. Anemia and hypotension are the most likely risk factors.
Arthroplasty, Replacement, Hip , Brain Ischemia/complications , Optic Nerve Diseases/etiology , Postoperative Complications/pathology , Aged , Brain Ischemia/pathology , Humans , Male , Optic Nerve Diseases/pathology , Risk Factors
La neuropatía óptica isquémica es una complicación perioperatoria infrecuente. Aún más inusual es la neuropatía óptica isquémica con compromiso ocular bilateral y simultáneo. Presentamos los casos de 2 pacientes que sufrieron neuropatía óptica isquémica bilateral y simultánea posterior a reemplazo total de cadera, en los cuales tanto la anemia como la hipotensión fueron identificados como los factores de riesgo más probables (AU)
Aged , Male , Humans , Arthroplasty, Replacement, Hip , Risk Factors , Postoperative Complications , Optic Nerve Diseases , Brain Ischemia
We studied nitrogen radical nitric oxide (.NO) release and reactive oxygen species (ROS) production by isolated neutrophils after phorbol myristate acetate (PMA) stimulation in 12 newly diagnosed and nine treated Parkinson's disease (PD) patients and 10 age-matched healthy controls. Neutrophils of both groups of PD patients had an elevated PMA-activated release of .NO [61 and 57%, respectively, higher than that of controls (p < 0.05)]. In contrast, H2O2 release was only significantly increased by 56% in chronically treated patients. In agreement, the maximum rate of luminol-dependent chemiluminescence, which partly represents O2- H2O2- .NO interactions, was increased only in the treated group. When other blood markers of oxidative stress were compared, only erythrocyte catalase activity was decreased in both PD patient series by 33 and 39%, respectively (p < 0.05), whereas plasma antioxidant capacity and erythrocyte superoxide dismutase activity levels were decreased only in treated PD patients. This study suggests that neutrophils express a primary alteration of .NO release in PD patients, whereas H2O2 and oxidative-stress parameters are more probably related to the evolution of PD or to effects of treatment with L-dopa.
Neutrophils/physiology , Nitric Oxide/physiology , Oxidative Stress , Parkinson Disease/physiopathology , Reactive Oxygen Species/metabolism , Antiparkinson Agents/administration & dosage , Carbidopa/administration & dosage , Catalase/blood , Drug Therapy, Combination , Erythrocytes/enzymology , Female , Free Radicals , Humans , Hydrogen Peroxide/blood , Levodopa/administration & dosage , Luminescent Measurements , Male , Middle Aged , Neutrophils/drug effects , Parkinson Disease/drug therapy , Superoxide Dismutase/blood
A series of 75 cases of Gilles de la Tourette syndrome (GTS) from Argentina, whose ages ranged from 6 to 55 with a mean of 20.02, were evaluated to compare findings with those reported for other countries. Mean age at onset was 7.44 years and mean overall duration of symptoms was 12.58 years; 6.7% of cases were mild, 49% moderate and 44.3% severe. Most frequent presenting motor tics were excessive blinking in 41 followed by head jerking in 16 and eye winking in six, while phonic tics included coprolalia in 28.0%, echolalia in 17.5% and palilalia in 10.8%. Abnormal perinatal events were reported in 40.5%, while positive family history for tics was present in 26.66%. Obsessive-compulsive behaviour was evident in 66% and attention deficit disorder in 16% of cases. Self-injurious behaviour comprised onychophagia in 28 patients, lip-biting in seven and self-slapping in eight cases. Almost half of our patients were initially interpreted as having a psychogenic disorder indicating that GTS in Argentina is most likely underdiagnosed. It may be concluded that the overall pattern of GTS is not dissimilar to that described for European, Asian and American populations, thus highlighting the previously recognized cross-cultural uniformity.
We report a parkinsonian patient initially responding to L-dopa who developed a severe loss of drug efficacy due to Strongyloides stercoralis duodenitis. The patient was put on mebendazole and metronidazole, and the parasitosis abated, allowing L-dopa reduction by 33%. Our patient illustrates the advisability of searching for Strongyloides stercoralis when L-dopa malabsorption is suspected in Parkinson's disease.
Duodenitis/metabolism , Intestinal Diseases, Parasitic/metabolism , Levodopa/pharmacokinetics , Parkinson Disease/complications , Strongyloides stercoralis , Strongyloidiasis/metabolism , Aged , Animals , Duodenitis/complications , Duodenitis/parasitology , Humans , Levodopa/therapeutic use , Male , Mebendazole/therapeutic use , Metronidazole/therapeutic use , Parkinson Disease/drug therapy , Parkinson Disease/metabolism , Strongyloidiasis/complications
Argentina is facing an increase in cocaine use by adolescents and young adults from every socioeconomic background. It is calculated that up to 10% of all cocaine passing through this country is locally sold and consumed. Nevertheless, local information describing common cocaine-related neurological events is scarce. From August 1988 to March 1993, 13 patients were evaluated with neurological disease associated with cocaine abuse. Among these 13 patients (Table 1), the mean age was 29; 70% were men. Patients most commonly used the nasal route (snorting). Concomitant abuse of other intoxicants, especially alcohol, was frequent (85%). The major neurological complications included one or more seizures (n = 7), ischemic stroke (n = 2) (Fig. 1-2), hemorrhagic stroke (n = 2) associated with arteriovenous malformation (Fig. 3a-b), memory disturbances (n = 1) and paroxysmal dystonia (n = 1). Psychiatric complaints were present in all patients. Mortality was not observed. There was no correlation between the appearance of complications and the amount of cocaine used, or prior experience with this drug. Only one of the 7 patients with seizures had a previous history of seizures. All had generalized tonic-clonic seizures, and one had concomitant absence episodes. Cocaine modulates central neurotransmitters and has direct cerebrovascular effects. The neurological complications appear to be related to cocaine hyperadrenergic effects, striatal dopaminergic receptor hypersensitivity and perhaps vasculitis. Structural changes in the brain of long-term cocaine abusers could explain the persistence of neurologic symptoms after drug withdrawl.
Brain Diseases/etiology , Cocaine , Substance-Related Disorders/complications , Adolescent , Adult , Alcoholism/complications , Coma/etiology , Dystonia/etiology , Female , Humans , Male , Paresthesia/etiology , Seizures/etiology , Tomography, X-Ray Computed
Chromosome Aberrations/genetics , Dystonia Musculorum Deformans/genetics , Genes, Dominant/genetics , Adult , Aged , Aged, 80 and over , Blepharospasm/diagnosis , Blepharospasm/genetics , Chromosome Aberrations/diagnosis , Chromosome Disorders , Dystonia Musculorum Deformans/diagnosis , Female , Humans , Male , Middle Aged , Neurologic Examination , Pedigree , Torticollis/diagnosis , Torticollis/genetics , Tremor/diagnosis , Tremor/genetics
El consumo de cocaina ha adquirido proporciones epidemiológicas en los EEUU. Actualmente en nuestro país, sitio de paso de la droga, un 10 por ciento es retenida para su consumo, calculandose que un 80 por ciento de los drogadictos utilizan este alcaloide. Presentamos 13 paciente, 9 hombres y 4 mujeres con edades que oscilan entre 19 y 43 años que presentaron sintomatología por consumo de cocaína. Siete pacientes presentaron convulsiones y en uno de ellos se asociaron ausencias. Cuatro casos sufrieron accidentes cerebrovasculares, 2 de ellos isquémico y los otros hemorrágico, secundario a ruptura de malformaciones vasculares. Un paciente presentó fallas mnésicas severas y otro crisis distónicas paroxísticas. Todo menos uno consumían la cocaína por vía nasal y salvo 2 pacientes, el resto utilizaba otras drogas. El consumo concomitante de etanol era una práctica frecuente. La discontinuidad en el consumo del acaloide provó mejoría en las crisis epilépicas durante el período de seguimiento, salvo en el paciente con ausencias. El paciente con fallas mnésicas evidenció una marcada mejoría al cabo de 4 años de suspendida la cocaína. La paciente con crisis distónicas paroxísticas, al cabo de 2 años de haber suprimido la droga, persistía con el cuadro distónico. En 11 casos hubo una relación temporal entre el consumo de cocaína y la sintomatología neurológica, mientras que en los 2 restantes se debería al consumo crónico. Esto se debe a cambios farmacológicos y eventualmente estructurales en el sistema nervioso central. La frecuencia de estos casos, otrora excepcionales en nuestro medio, ha aumentado sensiblemente, obligando a considerar el consumo de este alcaloide en el enfoque diagnóstico de pacientes jóvenes con eventos neurológicos
Humans , Male , Female , Adolescent , Adult , Cocaine , Neurologic Manifestations , Substance-Related Disorders/complications , Alcoholism/complications , Coma , Dystonia , Paresthesia , Seizures , Tomography, X-Ray Computed
El consumo de cocaina ha adquirido proporciones epidemiológicas en los EEUU. Actualmente en nuestro país, sitio de paso de la droga, un 10 por ciento es retenida para su consumo, calculandose que un 80 por ciento de los drogadictos utilizan este alcaloide. Presentamos 13 paciente, 9 hombres y 4 mujeres con edades que oscilan entre 19 y 43 años que presentaron sintomatología por consumo de cocaína. Siete pacientes presentaron convulsiones y en uno de ellos se asociaron ausencias. Cuatro casos sufrieron accidentes cerebrovasculares, 2 de ellos isquémico y los otros hemorrágico, secundario a ruptura de malformaciones vasculares. Un paciente presentó fallas mnésicas severas y otro crisis distónicas paroxísticas. Todo menos uno consumían la cocaína por vía nasal y salvo 2 pacientes, el resto utilizaba otras drogas. El consumo concomitante de etanol era una práctica frecuente. La discontinuidad en el consumo del acaloide provó mejoría en las crisis epilépicas durante el período de seguimiento, salvo en el paciente con ausencias. El paciente con fallas mnésicas evidenció una marcada mejoría al cabo de 4 años de suspendida la cocaína. La paciente con crisis distónicas paroxísticas, al cabo de 2 años de haber suprimido la droga, persistía con el cuadro distónico. En 11 casos hubo una relación temporal entre el consumo de cocaína y la sintomatología neurológica, mientras que en los 2 restantes se debería al consumo crónico. Esto se debe a cambios farmacológicos y eventualmente estructurales en el sistema nervioso central. La frecuencia de estos casos, otrora excepcionales en nuestro medio, ha aumentado sensiblemente, obligando a considerar el consumo de este alcaloide en el enfoque diagnóstico de pacientes jóvenes con eventos neurológicos (AU)
Humans , Male , Female , Adolescent , Adult , Substance-Related Disorders/complications , Cocaine , Neurologic Manifestations , Alcoholism/complications , Paresthesia , Coma , Dystonia , Tomography, X-Ray Computed
