No abstract

A prospective study of 98 consecutive adults with a first seizure to determine the most important etiological factors and the optimum diagnostics. 27 were thought to have cryptogenic seizures. Main causes of symptomatic seizures were: cerebral infarction, alcohol-withdrawal, CNS infections, tumors, vascular malformations, traumatism and miscellanea. Eight were infected by human immunodeficiency virus (HIV-1) representing 8.2% of all the patients with a first seizure and 20% of the 15-45-year age group. CT disclosed structural lesions in 33 cases. MRI in those with normal CT and no other explanation of seizure revealed additional lesions in 22.2%, but did not change management in any. We conclude that CT is essential in evaluation of adults with first seizure. MRI may be useful in selected cases. The HIV-infected now represent an important group with a first seizure.

Nine months of L-arginine supplementation did not show effectiveness in the four patients affected with CRTR-D in this protocol.

Mental retardation (MR) is a common disorder frequently of unknown origin. Because there are few studies regarding MR and inborn errors of metabolism (IEM), we aimed to identify patients with IEM from a cohort of 944 patients with unexplained MR. Biochemical examinations such as determination of creatine (Cr) metabolites, acylcarnitines, purine, and pyrimidines in urine were applied. We found seven patients with IEM [three with cerebral Cr deficiency syndromes (CCDS)], one with adenylosuccinate lyase (ADSL) deficiency, and three, born before the neonatal metabolic screening program in Catalonia, with phenylketonuria (PKU). All told, they represent 0.8% of the whole cohort. All of them had additional symptoms such as epilepsy, movement disorders, autism, and other psychiatric disturbances. In conclusion, in patients with MR, it is essential to perform a thorough appraisal of the associated signs and symptoms, and in most disorders, it is necessary to apply specific analyses. In some cases, it is important to achieve an early diagnosis and therapy, which may reduce the morbimortality, and to offer genetic counselling.