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Atretic cephalocele appears as an unimportant and benign lesion. This malformation consists of meningeal and vestigial tissues (arachnoid, glial, or central nervous system rests). The authors report the findings in 16 cases (seven parietal and nine occipital) of rudimentary cephaloceles. Twelve patients presented with associated brain abnormalities detected(More)
Magnetic resonance imaging (MRI) has enabled the identification of neuronal migration disorders in living subjects. This represents an important achievement in the diagnosis of patients with these anomalies. At least five affected families with coexistent subcortical laminar heterotopia and lissencephaly have been reported recently. This association(More)
Oxygen free radicals damage kidneys and accumulate during the period of preservation prior to transplantation. We hypothesized that a perfusate containing either an oxygen free radical scavenger such as ceruloplasmin, or an iron-chelating agent such as deferoxamine, would improve kidney preservation. Thirty-eight mongrel dogs underwent autotransplantation(More)
We describe a Quality Life scale in childhood epilepsy (CAVE) composed by 8 items, behaviour, school compliance, learning, autonomy, social relation, frequency and intensity of seizures and the parents opinions. Each item may be answered as very bad (5), bad (2), medium (3), good (4), or very good (5), and we can obtain full scores before and after the(More)
Forty-nine asymptomatic asthmatic children who showed exercise induced bronchospasm (EIB), received in a randomized double-blind fashion one of the four following drugs administered through nebulizer and facial mask: salbutamol 4 mg (13 patients), disodium chromoglycate 20 mg (12 patients), ipratroprium bromide 0.4 mg (12 patients), placebo (12 patients).(More)
A six year old girl is presented, who shows a short trunk dwarfism, is mentally retarded, lacks excretion of mucopolysaccharides in urine and has very severe generalized oseous alterations which corresponds to the characteristics of the Dyggve-Melchior-Clausen syndrome. The parents of the patient were cousins, which makes one think of a recessive autosomic(More)
BACKGROUND/AIM Rett syndrome (RTT) is an X-linked neurodevelopmental dominant disorder that affects almost exclusively girls. The disease is mainly sporadic, caused by de novo mutations at MECP2 gene (Xq28), but a low percentage of familial cases have been reported. We present the results of RTT prenatal diagnosis in three families and discuss the(More)
Two cases are presented, a female and a male, with a clinical and radiological picture which can be included in Kniest's syndrome. Both patients showed significant psychomotor retardation. The boy presented bilateral glaucoma. The osseous biopsy of the girl showed many large sized chondrocytes in the cartilagenous tissue surrounded by clear lacunae and(More)