[Cases of symptomatic epilepsy at a regional reference neuropediatric unit].

Objective: The objective of this study was to analyze, from an aetiological angle, the cases seen with symptomatic epilepsy by the Seccion de Neuropaediatria del Hospital Miguel Servet de Zaragoza.

Patients And Methods: We studied the cases diagnosed as having symptomatic epilepsy between May 1990 and November 1999.

Results: Of a total of 4,466 children assessed during the study period, the diagnosis of epilepsy was established in 461 children (10.

[Cases of idiopathic and cryptogenic epilepsias in a regional referral neuropediatric unit].

Introduction And Objectives: Advances in genetics, techniques for diagnosis and treatment, and increasing concern for the quality of life and neuropsychological aspects of epileptic children and the possible repercussions of treatment lead to changes in the approach to epilepsy and require continual adaptation. In this study we analysed a series of cases of idiopathic and cryptogenic epilepsy attended by the Neuropaediatric Department of the Hospital Miguel Servet in Zaragoza (Spain).

Patients And Methods: We studied the cases diagnosed as having idiopathic or cryptogenic epilepsy between May 1990 and December 1999.

[Aplasia cutis congenita in a newborn: etiopathogenic review and diagnostic approach].

Aplasia cutis congenita is a rare condition characterized by the congenital absence of epidermis, dermis and, in some cases, subcutaneous tissues. It was first described by Cordon in 1767 and more than 500 cases have been reported since, with an estimate incidence of 3 in 10,000 births. The lesions may occur on any body surface although localised agenesis of the scalp is the most frequent pattern.

[Oxidative phosphorylation defects with neonatal presentation: review of our caseload].

Objectives: To define the oxidative phosporilation deficit syndrome in the neonatal in terms of incidence and clinical, biochemical and genetic features.

Material And Methods: We report 9 newborns diagnosed as oxidatic phosporilation deficit during the last 8 years in our hospital by means of clinical, metabolic, pathological and molecular studies, among other evaluations. The diagnosis was established based on ensymatic deficit of the respiratory chain, associated with alterations in the mtDNA in one case, and with mitochondrial ultrastructural anomalies in 5 cases.

[Cerebral ischemia following varicella. A case report].

Introduction: Varicella in childhood is a self-limiting disease which usually follows a benign course. However, a considerable number of complications occur, particularly involving the nervous system. On rare occasions hemiparesis has been reported following an ischemic cerebrovascular accident related to varicella.

[McArdle's disease in a 14-year-old girl with fatigability and raised muscle enzymes].

Introduction: McArdle's disease is a disorder of muscle energy metabolism caused by a deficit of muscle phosphorylase. The typical form presents with fatigability muscle cramps and pains triggered by physical exercise. Some cases have few symptoms.

[Early diagnosis of a serious form of Pelizaeus-Merzbacher's disease confirmed by molecular analysis of the gene for proto-lipoproteins].

Introduction: Pelizaeus-Merzbacher's disease involves extensive demyelination of the Central Nervous System. This is due to a defect in the gene for proteolipoproteins, found on the X chromosome. It appears early as marked axial hypotonia, stridor, nystagmus and anomalous movements of the head, and later as variable pyramidal, extrapyramidal and cerebellar involvement.