Five patients with the clinical diagnosis of fetal alcohol syndrome (FAS) died at the ages of 8 and 4 months and 17, 4 and 2 days. Neuropathological examination revealed microencephalic brains in all cases, without morphological evidence of maturation delay. One of them showed agenesis of the corpus callosum and hypoplasia of the cerebellar vermis. Five of them had only small dysgenetic changes, consisting mainly of glio or glioneuronal meningeal or parenchymal heterotopias. Our findings indicate that the brain is commonly but not affected in FAS. The influence of alcohol and its metabolites, as well as undernutrition, and use of other drugs by the mothers, should be taken into account as possible etiologic factors.
Our material presents two patterns of white matter lesions in the brain of newborns dying with the clinical diagnosis of intrauterine or perinatal pathology: (1) classical periventricular ischemic infarction resulting in coagulative necrosis and (2) diffuse periventricular colliquative necrosis, in some cases involving the center of the cerebral convolutions. The majority of cases did not survive the first month of life. The cases with longer survival (up to six years) presented clinically with the syndrome of bilateral spastic cerebral palsy. Neuropathological examination showed dilation of the lateral ventricles, small cavities, and diffuse glial scars, not only in the periventricular white matter but also involving the axis of cerebral convolutions, as opposed to the relative sparing of cerebral cortex and other brain structures. These changes could be considered as evident or putative forms of a distinct type of perinatal brain damage.
Only six cases of living newborns with apparently complete monosomy 21 have been reported. All the previous cases with the exception of the present case died between 3 weeks and 20 months. Only one of these cases had a postmortem examination. The subject of this report was previously described at the age of 6 years (Davis et al. 1976). He survived until 11 years old and is the oldest known case of complete monosomy 21. We report here the clinical presentation over 11 years, results of gene dosage studies, cytogenetic analysis, and the neuropathological postmortem examination.
The brain lesions produced by temporary arrest of circulation in a newborn and an 11-month-old infant are described. In the newborn, two periods of arrest occurred, one on the fifth day after birth and the second a few days before death on the sixth week. The older infant suffered a single episode of cardiac arrest at the age of 11 months and survived 8 days. In both cases, postmortem examination revealed lesions in spinal cord, in brain stem, and in cerebral hemispheres. This distribution of damage is compared with the patterns of injury produced experimentally by episodes of partial (hypoxia) and total (anoxia) asphyxia in subhuman primates. The coexistence of hemispheral and brain stem nuclear patterns of pathology indicates that both hypoxia and anoxia had occurred in the present cases.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.