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C Garaizar Axpe

Publications and source records attributed to C Garaizar Axpe.

11 recordsLinked to original sources
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↗