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Biomedical subjects

E Zuazo Zamalloa

Publications and source records attributed to E Zuazo Zamalloa.

7 recordsLinked to original sources

[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↗

[Recurrent familial amyotrophic neuralgia of the brachial plexus. Report of a family and review of the literature].

A family with hereditary neuralgic amyotrophy of the brachial plexus throughout three generations is described. Outstanding features are early onset occurring during childhood or adolescence, unlike the idiopatic sporadic form of the disease, and the association with a peculiar physiognomy that reminds one of the facial expression found in Modigliani's paintings. Clinical evolution is not always favorable since relapses and long-lasting sequelae are common. The disease is inherited through an autosomal dominant gene with high penetrance and the neuropathy is always associated with the phenotypic features. The possible relationship with other pathological entities of very different clinical expression, such as tomacular neuropathy, is discussed, as well as the distinguishing peculiarities between the inherited and the sporadic forms of brachial plexus neuropathy.

Adolescent↗

[Celiac disease. Is its clinical pattern changing?].

Celiac disease (CD) is one of the most malabsorption syndromes in Pediatrics, its diagnosis being based on peroral intestinal biopsy. During the period 1974-1988 we have studied 178 patients with the suspected diagnosis of CD: diagnosis was confirmed in 117 whereas 22 are still under study. Mean age of the patients was 22.5 +/- 22.7 months, diagnosis being made during the first year of life in 32.6% of cases. Most cases had a classic clinical onset, although over the last year symptoms seen to be less apparent. Several patients presented with atypical forms. Also, associated diseases are observed in several cases. CD is often presented nowadays with few or atypical symptoms of difficult diagnosis and in this context the use of immunologic markers may be specially helpful.

Celiac Disease↗

[Incidence of celiac disease in Vizcaya].

Celiac disease (CD) is a permanent gluten-sensitive enteropathy appearing in individuals genetcally predisposed. Its incidence varies according to the authors, but is situated about 1/1.500 alive newborn infants (ANI). Recently, a decreased in the incidence of the disease as well as a delay in the onset of symptoms have been reported in several countries. The incidence of the disease in Spain is unknown so we have studied it in our population. In the period 1976-1987, 117 patients were suspected to have CD in the different centers performing intestinal biopsies in Vizcaya. Diagnosis was confirmed in 87 cases, thus implying an incidence of 1/2.151 ANI. Age onset has been stable along the years, and most cases continue to be diagnosed during the first 2 years of life.

Biopsy↗