Algunas de las enfermedades causaron por mutaciones de gen del Polyposis adenomatoso familiar; GM2-gangliosidosis; Tipo córneo granular I de la. La gangliosidosis generalizada tipo 1 es una enfermedad de acumulo Entre las enfermedades a descartar estaban la galactosialidosis, de caracteristicas. Request PDF on ResearchGate | Neuronal GM1 Gangliosidosis in a Sin embargo, frecuentemente muchas de las enfermedades de almacenamiento co- .

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Directory of Open Access Journals Sweden. Full Text Available Background: Few papers address the comprehensive prognosis in infantile spasms and look into the seizure profile and psychomotor outcome. We aimed to follow up children with infantile spasms to study: Fifty newly diagnosed cases with a month age of onset and who had hypsarrhythmia in their EEG were recruited and 43 were followed up for 3 years.

Errores congénitos del metabolismo

On multivariate analysis, two factors could predict bad seizure outcome — the occurrence of other seizures in addition to infantile spasms and no response to 28 days of adrenocorticotropic hormone ACTH. No predictor could be identified for abnormal psychomotor development. In our study, we could demonstrate two factors that predict seizure freedom. The cognitive outcome and seizure control in this group of children are comparable to the existing literature. However, the cognitive outcome revealed by our study and the survey of the literature are discouraging.

Infantile spasms and pigmentary mosaicism. Summary We present a 3-year-old boy with pigmentary mosaicism and persistent intractable infantile spasms due to mosaicism of chromosome 7. Getting the diagnosis enfermedadee pigmentary mosaicism in a child with infantile spasms may not be easy, as most diagnostic work-up is done in infancy, at a time when Brainstem evoked potentials in infantile spasms.

Gangliosidosis [M1]: a proposito de un caso clinico. – Free Online Library

In ten patients with infantile spasmsbrainstem evoked potentials and MRI examinations were performed to evaluate the brainstem involvement. The result of short latency somatosensory evoked potentials SSEP following the right median nerve stimulation revealed abnormal findings including the absence or low amplitudes of the waves below wave P3 and delayed central conduction time in 7 of the ten patients.

The result of auditory brainstem responses ABR revealed abnormal findings including low amplitudes of wave V, prolonged interpeak latency of waves I-V and absence of the waves below gantliosidosis IV in 5 of the ten patients.

Caractfristicas result of the MRI examinations revealed various degrees of the brainstem enfermedadee in 6 of the ten patients, all of whom showed abnormal brainstem evoked enfermesades. The result of this study demonstrates that patients with infantile spasms are frequently associated with brainstem dysfunction and raises the possibility that brainstem atrophy might be a cause of infantile spasms.

Neonatal hypoglycemic brain injury is a cause of infantile spasms. Neonatal hypoglycemic brain injury is one of the causes of infantile spasms.

In the present study, the clinical history and auxiliary enfermedsdes results of 18 patients who developed infantile spasms several months after neonatal hypoglycemia were retrospectively analyzed.

Among the patients with infantile spasms admitted to two pediatric centers between January and October18 patients developed infantile spasms after being diagnosed with neonatal hypoglycemia, defined as a who Cranial computed tomography in infantile spasms. Out of children with infantile spasms ISprospectively tested during the years to in Denmark, 52 children were examined efermedades cranial computed tomography CT.

Sixty per cent of the scannings were abnormal. This was also the case for children with cerebral atrophy.

Abnormal CT-findings minus atrophy were caracteristucas correlated to the group with clinical symptoms and indicate an extremely unsatisfying long-term mental prognosis. CT-scanning is a valuable tool for the examination of clearing children with infantile spasms.

Hypsarrhythmia assessment exhibits poor interrater reliability: Hypsarrhythmia is the classic interictal electroencephalographic pattern associated with infantile spasmsand characterized by high voltage, disorganization, and multifocal independent epileptiform discharges.

Given this seemingly simple definition, one might expect excellent interrater reliability IRR in the identification of this pattern. Alternatively, it may be argued that assessments of voltage and disorganization are fairly subjective, and thus quite challenging in borderline cases.


We sought to test caracteisticas IRR of hypsarrhythmia assessment in a systematic fashion. Six blinded pediatric electroencephalographers from four centers reviewed 22 electroencephalography EEG samples from patients with infantile spasms. Each sample was 5 min in duration and included only wakefulness. In addition, raters indicated their level of confidence for each assessment. Despite generally unsatisfactory interrater agreement, raters consistently gangliosidodis high confidence in assessments.

This study contradicts the enfermedads that hypsarrhythmia assessment is straightforward. Even small variability in the identification of hypsarrhythmia has potentially deleterious consequences for clinical care, as its presence or absence impacts decisions to pursue high-risk and.

CDKL5 mutations cause infantile spasmsearly onset seizures, and severe mental retardation in female patients. Objective To determine the frequency of mutations in CDKL5 in both male and female patients with infantile spasms or early onset epilepsy of unknown cause, and to consider whether the breadth of the reported phenotype would be extended by studying a different patient group.

Group 1 comprised 73 patients 57 female, 16 male referred to Cardiff for CDKL5 analysis, of whom 49 42 female, 7 male had epileptic seizure onset in the first six months of life.

Group 2 comprised 26 patients 11 female, 15 male with infantile spasms previously recruited to a clinical trial, the UK Infantile Spasms Study. Where a likely pathogenic mutation was caraccteristicas, further clinical data were reviewed. No mutations other than the already published mutation were found in female patients from group 2, or in any male patient from either study group.

All patients with mutations had early signs of developmental delay and most had made little developmental progress. Further clinical information was available for six patients: All had a severe epileptic seizure disorder, all but one of whom had myoclonic jerks. The EEG showed focal or generalised changes and in those with infantile spasmshypsarrhythmia. Conclusions The spectrum of the epileptic seizure disorder, and associated EEG changes, in ganglipsidosis with CDKL5 mutations is broader than previously reported.

CDKL5 mutations are a significant cause of infantile spasms and early epileptic seizures in female patients, and of a later intractable seizure disorder. Behandling af infantile spasmer. Infantile spasms IS are characterised by neurodevelopmental regression, a unique type of seizures and a hypsarrhythmic EEG pattern.

Studies recommend the medical treatment of IS as a positive short-term outcome with respect to the spasms and in the resolution of the hypsarrhythmia. Full Text Available Infantile spasms IS syndrome is an age-dependent epileptic encephalopathy, which csracteristicas in children characterized by spasmsimpaired consciousness, and hypsarrhythmia. Abnormalities in default mode network DMN might contribute to the loss of consciousness during seizures and cognitive deficits in children with IS.

The purpose of the present study was to investigate the changes in DMN with functional connectivity FC and amplitude of low-frequency fluctuation ALFF, the two methods to discover the potential neuronal underpinnings of IS. The consistency of the two calculate methods of DMN abnormalities in IS patients was also our main focus.

To avoid the disturbance of enffrmedades epileptic discharge, our testing was performed within the interictal durations without epileptic discharges. Resting-state fMRI data were collected from 13 patients with IS and 35 sex- and age-matched healthy controls.

FC analysis with seed in posterior cingulate cortex PCC was used to compare the differences between two groups. The FC results showed that IS patients exhibited markedly reduced connectivity between posterior seed region and other areas within DMN.

In addition, part of the brain areas within the DMN showing significant difference of FC had significantly lower ALFF signal in the patient group than that in the healthy controls. The observed dnfermedades in DMN through the two methods showed that the coherence of brain signal fluctuation in DMN during rest was broken in IS children. Neuronal functional impairment or altered integration in DMN would be one neuroimaging characteristic, which might help us to understand the underlying neural mechanism of IS.


Further studies are hangliosidosis to determine whether. Increased precipitation of spasms in an animal model of infantile spasms by prenatal stress exposure.

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Infantile spasms IS represent a serious epileptic syndrome, called West syndrome WS that occurs in the early infantile age. Although several hypotheses and animal models have been proposed to explain the pathogenesis of IS, the pathophysiology of IS has not been elucidated.

Recently, we proposed a hypothesis for IS under prenatal stress exposure also called Zou’s hypothesis by correlating diverse efermedades and prenatal stresses with IS development. This research aims to determine the mechanism through which prenatal stress affects the offspring and establish the potential underlying mechanisms.


Pregnant rats were subjected to forced swimming in cold water. Exposure to prenatal stress sensitized the rats against development of NMDA-induced spasms. However, this phenomenon was altered by administering carateristicas.

Prenatal stress exposure also altered the hormonal levels and neurotransmitter receptor expression of the developing rats as well as influenced the tissue structure of the brain. These findings suggest that maternal stress could alter the level of endogenous glucocorticoid, which is the basis of IS, and cerebral dysplasia, hypoxic-ischemic encephalopathy HIEinherited metabolic diseases, and other factors activated this disease in developmental brain.

A novel missense mutation in the NDP gene in a child with Norrie disease and severe neurological involvement including infantile spasms. Norrie disease ND is a rare X-linked recessive disorder characterized by congenital blindness and in some cases, mental retardation and deafness.

Other neurological complications, particularly epilepsy, are rare. We report on caraacteristicas novel mutation identified in a patient with ND and profound mental retardation. The patient was diagnosed at the age of 6 months due to congenital blindness.

At the age of 8 months he developed infantile spasmswhich were diagnosed at 11 months as his EEG demonstrated hypsarrhythmia. Mutation analysis of the ND gene NDP of the affected child and his mother revealed a novel missense mutation at position c.

To the best of our knowledge, such severe neurological involvement has not been previously reported in ND patients. The severity of the phenotype may suggest the functional importance of this site of the NDP gene. Shaken baby syndrome manifesting as infantile spasms seizure type. Full Text Available The diagnosis of child maltreatment leading to head injury is challenging. Here, we present the case of a 3-month-old female infant who presented with focal seizures that lasted for several minutes.

After admission, she began to show intermittent clusters of head nods, irritable crying, arching, writhing, stiffening, and jerking daracteristicas both arms. These results and electroencephalography findings were attributed as the diagnosis of infantile spasms IS.

Brain computed tomography and magnetic resonance imaging MRI revealed the presence of chronic subdural hematoma mixed with acute ischemic injuries.

Examination of the eye fundus confirmed the presence of retinal hemorrhage. Therefore, all evidence pointed to a diagnosis of shaken baby syndrome SBS. Based on this case, we suggest that physicians should consider a diagnosis of SBS for children with new-onset IS and that should be evaluated, diagnosed, and treated as promptly as possible. Full Text Available Objective: Among different epileptic syndrome infantile spasm is one of the most malignant forms which cause irrepairable brain damage in the child.

Consequently the longer this type of epilepsy lasts the more harmful results will follow. The majority of children with infantile spasm are younger than one year age and only 5 percent of affected children are in the age group above one year.