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Biomedical subjects

C Garaizar Axpe

Publications and source records attributed to C Garaizar Axpe.

18 recordsLinked to original sources
PubMed2003

[Antiepileptic drugs used in childhood. New products and new concepts].

INTRODUCTION: Eight new antiepileptic drugs (AED) have been marketed in Spain since 1990 and others will soon follow. OBJECTIVE: To review the concepts underlying the development of the new drugs, as well as their indications, efficacy and safety. DEVELOPMENT: Pharmacologic antiepileptic intervention is no longer solely directed towards an anticonvulsant effect, but also to epileptogenic prevention, disease modification and reversal of pharmacoresistance. The development of new AED, initially based on the screening of putative products in animal models, changed during the last half of the century to a rational design based on known facts about excitatory /inhibitory neuronal mechanisms. More recently, attention has focussed on pharmacogenetics. The new AED were initially indicated for partial epilepsies, but some have been shown to have a broader clinical spectrum. Some show the ideal pharmacokinetic mechanisms, avoiding hepatic metabolism and protein binding. Drug interactions and adverse effects, especially severe idiosyncratic adverse effects, are rare, although there are some exceptions. In most cases, however, seizure control does not seem to be better than with the classic AED. Because of the specific characteristics of childhood epilepsy and pharmacokinetics, as well as the regulations governing the development of clinical trials, the use of new products in children is circumspect, which in turn delays the access of such patients to a possible therapeutic benefit.

Anticonvulsants↗
PubMed2003

[Mitochondrial leukoencephalopathy of infancy: is it an early expression of Leigh syndrome?].

INTRODUCTION: Leigh syndrome is probably the most frequent metabolic disorder in infancy and childhood. The classic form of the disease is characterized by bilateral lesions of basal ganglia and brainstem. The extensive involvement of white matter, without radiological basal ganglia abnormalities, is an unusual manifestation of the disease. OBJECTIVE: Four patients who presented the disease during the first year of life are described. PATIENTS AND METHODS: The four patients presented a stereotyped clinical picture, consisting of regression of already acquired psychomotor abilities and very prominent pyramidal signs. These clinical manifestations and results of neuroimaging studies suggested a primary leukodystrophy. Increased values of lactic and piruvic acids suggested a mitochondrial disorder. Enzymatic studies confirmed a mitochondrial respiratory chain deficiency in two patients, and a pyruvate dehydrogenase complex defect in the remaining two patients. The pathological findings in the latter two sisters were consistent with the characteristic microscopic lesions of Leigh syndrome, but with atypical distribution. CONCLUSION: Diagnosis of Leigh syndrome must be taken into consideration in infants presenting with a leukodystrophic clinical and radiological pattern, despite the lack of basal ganglia involvement.

Dementia, Vascular↗
PubMed2002

[Congenital myasthenic syndromes. Clinical and electromyographic evaluation].

BACKGROUND: Congenital myasthenic syndromes are the more frequent group of disorders involving neuromuscular transmission in childhood. They are characterized by hypotonia, weakness and periodic apneic spells, which can be life threatening. Further elucidation of the causes of these syndromes requires sophisticated technology, which is not available in all hospitals. OBJECTIVE: To provide evidence that clinical features and repetitive stimulation support and guide the correct diagnosis in the absence of invasive techniques. METHODS: All the patients diagnosed with congenital myasthenic syndrome were selected. The sample consisted of four children: two with a defect in acetylcholine resynthesis and mobilization (familial infantile myasthenia), one with absence of the endplate-specific form of acetylcholinesterase and one with acetylcholine receptor deficit. The clinical and electromyographic features of these syndromes are described in detail. CONCLUSIONS: Clinical phenotypes and repetitive stimulation can be used to classify the most common myasthenic syndromes and to avoid more aggressive techniques, predict potentially life threatening respiratory exacerbations and avoid iatrogenic effects. They can also be used in genetic counseling.

Child↗
PubMed1998

[Frequency and current clinical diversity of cerebral cortical dysgenesis].

OBJECTIVE: The extended use of MRI has increased the number of patients diagnosed of cortical dysgenesis and has changed the clinical spectrum usually associated with this disorder. The aim of this study was to know the frequency and clinical variety of cortical dysgenesis in our current patient population. PATIENTS AND METHODS: All patients with dysgenesis of the neocortex or of the hippocampus, according to radiological or pathological features, were selected from the total number of patients attended during 1996 at an outpatient hospital-based neuropediatric clinic. Malformations of cerebellar cortex and neurocutaneous syndrome were excluded. RESULTS: Twenty-one patients (1.3% of all patients attended at the clinic) studied by MRI showed polymicrogyria (43%) which was of perisilvian localization in three patients, heterotopias (33%), dysplasia of the hippocampus (24%), agyria-pachygria (14%) and hemimegaencephalia (5%). Three patients underwent surgical interventions. Epilepsy was present in 90%, mental retardation in 68%, cerebral palsy 47%, infantile spasms 40%, microcephally 25%, autism 10%, hyperkinesis 5% and learning disabilities in 33% of those school age children free of mental retardation. CONCLUSIONS: The actual prevalence of cortical dysgenesis at our clinic is similar to that of neurodevelopmental impairments following birth-asphyxia (1.2%), amounting to two thirds of those following prematurity and to half of those following a brain injury of late prenatal onset. Except for the almost constant presence of epilepsy, especially infantile spasms, clinical symptomatology is diverse and occurs in a similar percentages in brain lesions acquired during labour or during late pregnancy. Hyperkinesis and autism have a similar prevalence to that seen in the total number of patients attended at the clinic during 1996.

Cerebral Cortex↗
PubMed1997

[Polymorphic epilepsy in children. Study of 12 patients].

OBJECTIVE: The purpose of this report is to describe our series of patients with polymorphic epilepsy, an infrequent diagnosis which was previously called severe myoclonic epilepsy. PATIENTS AND METHODS: A retrospective descriptive study of 12 patients diagnosed with polymorphic epilepsy according to the criteria proposed by the International League Against Epilepsy (1989) was carried out. All patients were recruited from the Neuropediatric Unit at our hospital. Minimum follow-up was 18 months, with a maximum of 20 years. RESULTS: In our opinion, the syndrome's evolution has three clinical EEG phases. The febrile phase, the catastrophic phase and the residual phase. The main interest from a pediatric point of view is the absence of EEG anomalies during the febrile phase, in spite of the severity of the condition. This may lead to confusion of the actual syndrome with complicated febrile seizures, which usually have a better prognosis. Another misleading diagnosis could be post-immunization disorders. To our best knowledge, evolution towards the catastrophic phase cannot be deterred. Antiepileptic drugs, in mono- or poly-therapy, at least until the present, have not proven to be useful in this disorder.

Adolescent↗
PubMed1993

[Glutaric aciduria type I].

We report three patients with glutaric aciduria type I. The biochemical diagnosis of two cases was revealed by determination of free glutaric acid in urine, by using the CG/EM method. In the third patient, however, these levels were only slightly increased and the diagnosis was attained by the determination of total glutaric acid and glutaryl-carnitine. Serum carnitine levels were decreased in two cases. Clinical symptoms of this type of organic acidemia are highlighted by an acute or subacute presentation with signs of dysfunction of the neostriatum, simulating a cerebral paralysis with extrapyramidal signs. Homozygous patients have been reported with the same biochemical and enzymatic activity findings, but these patients were neurologically asymptomatic throughout life. Other features suggestive of the disease are macrocephaly associated with a widening of the subarachnoid spaces. Riboflavin and carnitine administration to these patients seems to prevent new bouts of neurological dysfunction.

Amino Acid Metabolism, Inborn Errors↗
PubMed1991

[Migraine in a pediatric emergency service].

105 patients were studied, during a one year period, who had attended the Pediatric Emergency Room, because of a migraine or migraine-like attack. In 8 patients, a different final diagnosis was accomplished during the acute episode: cerebral tumor, subaracnoid bleeding, epilepsy and meningitis. The clinical features are described. Aura symptoms and/or neurologic deficit were necessarily more frequent in these patients than those attending a pediatric out-patient clinic. Neurodiagnostic procedures (EEG, lumbar puncture, CT-Scan) were done in 20%; a third part of the patients were observed at the hospital during several hours before discharge, but only 5% required to be admitted. 30% had attended the Emergency Room in previous occasions for the same purpose. Half of the children did not have a history of migraine, therefore a definite diagnostic of migraine would depend of posterior evolution.

Age Factors↗
PubMedDate not supplied

[Course of drug-resistant childhood epilepsy treated with topiramate].

INTRODUCTION: The variable proportion of cases with childhood epilepsy resistant to treatment, has led to the development of different new drugs. OBJECTIVE: To study the efficacy of topiramate as add-on therapy in the everyday practice of a neuropaediatric clinic. PATIENTS AND METHODS: A retrospective study of all the patients treated with topiramate in a hospital outpatient clinic was performed. OUTCOME MEASUREMENT: 1. Reduction in >/= 50% as compared to basal frequency (partial control) and total control of seizures, and 2. Duration of drug treatment, using the Kaplan-Meier method. RESULTS: We studied 31 courses of treatment in 29 children. The aetiology of the epileptic syndromes was: idiopathic epilepsy (3.3%), cryptogenic epilepsy (58%) and symptomatic epilepsy (38.7%). We found a >/= 50% reduction in the basal monthly frequency of seizures after 3 months of treatment in 52% of the patients, which persisted 18 months later in 25%. Total control of seizures was obtained in 18.5% of the patients after 3 months of treatment, and this response was maintained 12 months later in 12.5%. The probability of maintaining treatment with topiramate for 6 months was 80%, and for 12 months was 49%. The average duration of treatment was 7.9 months (interval 1-29 months). Topiramate was suspended in 9 patients (29%). CONCLUSION: In difficult to treat childhood epilepsy topiramate as add-on therapy provides a partial and total responses which are similar to those reported with classical drugs, and depend on the duration of follow-up.

Anticonvulsants↗
PubMedDate not supplied

[Benign childhood occipital epilepsy: evolution of the occipital spikes].

PURPOSE: We studied the electro-clinical evolution of the occipital EEG discharges characteristic of partial benign epilepsy of childhood with occipital paroxysms. The influence of age, sex, epilepsy course and treatment on the evolution of this electrical event were analyzed. METHODS: A longitudinal retrospective study that included 30 patients who fullfilled the diagnostic criteria of benign occipital epilepsy proposed by the ILAE. The onset, migration and disappearance of EEG foci were analyzed using the Pearson coefficient and non-parametric tests. RESULTS: Occipital spikes are found earlier when vomiting is an ictal symptom (p < 0.01) or longer seizures (p = 0.05). Patients with and antecedent of febrile seizures or with an visual aura show a later onset of occipital spikes (p < 0.05). Ictal vomiting is associated with a longer persistence of occipital spikes along the years. Migration of EEG foci to anterior regions is characteristic of early onset seizures and predicts a later remission (p < 0.05). Extraoccipital foci are associated with a high seizure and occipital spike recurrence rate. CONCLUSIONS: Occipital spikes persist longer than seizures. Ictal vomiting is the only symptom related to specific EEG features: early onset, longer evolution and late remission of EEG discharges.

Child↗