Achondroplasia (ACh) is the most frequent bone dysplasia. The mode of inheritance is autosomal dominant. The incident of neurological complications ranges between 20% and 47%; frequently the symptoms are subtle but are due to such serious conditions as cervicomedullary compressive syndromes, syringomyelia or hydrocephalus; thus, the early identification of this disorder is very important. We made a prospective study of 39 patients (20 female, 19 male) with ACh; their ages ranged from 3 months to 17 years (mean 4 years and 6 months). All patients had hypotonia and psychomotor delay; 3 had recurrent apnea, 1 developed radicular syndrome and 1 had leg paresthesias. The CT scan was normal in 5, 20 had cortical atrophy and 18 communicating hydrocephalus; we identified foramen magnum abnormalities in 28 patients, and reduced craniocervical junction with cervicomedullary compression in 6. Myelography and myelotomography demonstrated spinal compression in 12 patients. The MRI showed cervicomedullary infarct in 1, syringomyelia in 2 and diastematomyelia in 1. The somatosensory evoked responses (SSER) were very useful in the early identification of brain stem and spinal abnormalities. We concluded that the neurological manifestations of pediatric patients with ACh are frequent and very important, demanding comprehensive clinical evaluation even in asymptomatic patients, especially those with severe hypotonia or SSER alterations.

The objective of this study was to determine the main clinical, neurophysiological and angiographic findings in brain death (BD) in children seen at the Instituto Nacional de Pediatría, a third-level facility in Mexico City, between 1991 and 1996. The following variables were retrospectively analyzed: sex, age, etiology, associated morbidity, duration of stay in hospital, and the results of two of three confirmatory studies (electroencephalogram, evoked potentials, radioisotopic angiography). In all, 125 patients were studied 78 male, median age 2 years (range: 18 days to 17 years)[. The most frequent etiology was infection (34%); 57% of the children developed associated morbidity. In 111 of 122 patients electrocerebral silence was observed; 100 of 107 had brain stem and somatosensory evoked potentials affording conclusive evidence of BD; and 83 of 90 patients had a positive radioisotopic angiography indicating BD. In 76 patients all three confirmatory studies were performed: for 15 there was at least one false-negative test result. Our age cohort showed a predominance of children less than 2 years old. BD etiologies in developing countries differ from those reported in developed countries.

No abstract

No abstract

When the three groups were compared in terms of appropriate epileptic control and normal psychomotor development, group I differed from the other groups and the difference was statistically significant.