A Clinical Neuropathological Study of the Fetal Alcohol Syndrome

Abstract

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.

Centuries ago, alcohol was thought to exert harmful effects on prenatal human development (Mendelson 1979). About 10 years ago, characteristic patterns of dysmorphogenesis in infants were ascribed to maternal drinking during pregnancy (Jones et al 1973, Jones and Smith 1975). These abnormalities were termed the "fetal alcohol syndrome" (FAS) (Jones et al 1973) "alcohol embryopathy" (Majewski et al 1976) or "alcohol embryo- and fetopathy" (Peiffer et al 1979).
To date, FAS has been diagnosed in not less than 450 cases throughout the world (Majewski 1981, Tanake et al 1981, Sokol 1981). The abnormalities observed in FAS can be grouped into four categories: 1) central nervous system dysfunctions 2) growth deficiencies 3) characteristic facial dysmorphism and 4) varied major and minor malformations (Clarren and Smith 1978). The clinical features of FAS are rather consistent and, therefore, better known than the pathological features. The incidence of heart defects and urinary tract malformations has been estimated, but until the present time the frequency of brain malformations was not known (Majewski 1981). The described brain anomalies have not been uniform and, therefore, new observations are of interest.

In order to study the incidence and types of nervous system malformations occurring in FAS, all autopsied cases of patients who died with this clinical diagnosis during the preceding 5 years were studied. Five such cases were identified.

Key words

Fetal alcohol syndrome - Neuropathology: major, minor cerebral malformations - Microcephaly