The prenatal diagnosis of the cerebro-hepato-renal syndrome of Zellweger.

The prenatal diagnosis of the cerebro-hepato-renal syndrome of Zellweger (CHRS) was made by assaying the levels of very long chain fatty acids (VLCFAs) in amniotic fluid cell cultures, obtained by amniocentesis at 16 1/2 weeks of pregnancy. The family-at-risk, because they had previously borne a child with CHRS, accepted these results as indications of an affected fetus, and chose to terminate the pregnancy at 20 1/2 weeks of gestation. The diagnosis was confirmed by the phenotype of the aborted fetus and the presence of markedly elevated levels of VLCFAs in fetal liver homogenates.

The cerebrohepatorenal (Zellweger) syndrome. Increased levels and impaired degradation of very-long-chain fatty acids and their use in prenatal diagnosis.

The cerebrohepatorenal (Zellweger) syndrome is a fatal autosomal recessive disorder manifested in the neonatal period by profound hypotonia, psychomotor retardation, dysmorphic features, and an enlarged liver. In this study we demonstrate fivefold or greater increases of very-long-chain fatty acid levels, particularly hexacosanoic acid (C26:0) and hexacosenoic acid (C26:1), in plasma and cultured skin fibroblasts from 20 patients. Similar findings in cultured amniocytes from 3 of 14 women in whom the fetus was at risk of the Zellweger syndrome permitted prenatal diagnosis.

Factors influencing outcome of pregnancy in heavy-drinking women.

18 pregnant women identified as heavy drinkers by the criteria of Cahalan et al., gave birth to 6 normal infants, 5 infants with fetal alcohol syndrome (FAS) and 7 with partial FAS. Average daily alcohol consumption of mothers of normal infants was less than that of mothers of FAS and partial FAS infants.

Cerebro-oculo-muscular syndrome: a variant of Fukuyama congenital cerebromuscular dystrophy.

Familial occurrence of cerebral malformations with muscular dystrophy was described by Fukuyama as congenital cerebromuscular dystrophy. We have observed a new syndrome belonging to the same group in three siblings. These syndromes differ in the degree of CNS involvement and abnormalities in the eye.