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.

Maternal ingested methadone, body fluid methadone, and the neonatal withdrawal syndrome.

The relationship between the quantity of methadone ingested by the pregnant mother, the quantity of methadone in maternal and neonatal body fluids, and the subsequent neonatal withdrawal course was studied. The severity of the neonatal withdrawal syndrome was found to be related to the total dose of methadone ingested by the mother during the last 12 weeks of pregnancy (p less than 0.02), the maternal dose of methadone at delivery (p less than 0.

Identification of the cold-insoluble globulin of plasma in amniotic fluid.

A fetal and adult plasma protein known as the cold-insoluble globulin (CIg) of plasma has been identified in amniotic fluid. Its concentration relative to the total protein in amniotic fluid is several times higher than that in adult or fetal plasma, suggesting that it arises from amniotic tissues.

The surgical correction of retrograde ejaculation.

Two patients with retrograde ejaculation subsequent to Y-V plasty of the bladder neck underwent a surgical procedure to reconstruct the internal vesical sphincter and correct the phenomenon. The approach is transvesical and the internal vesical sphincter is reconstructed to the diameter of a No. 16 Foley catheter.

Studies in porphyria. IV. Expression of the gene defect of acute intermittent porphyria in cultured human skin fibroblasts and amniotic cells: prenatal diagnosis of the porphyric trait.

The gene lesion of the porphyrin-heme synthetic pathway in acute intermittent porphyria (AIP) is reflected in a deficient level of activity of the cytosol enzyme uroporphyrinogen I synthetase (URO-S). A marked URO-S deficiency has been demonstrated in the liver and in circulating erythrocytes of individuals with both active and latent AIP. This enzymic abnormality accounts for the excessive production and excretion into urine of the porphyrin precursors, lamda-aminolevulinic acid (ALA) and porphobilinogen (PBG) in AIP subjects.

Anosmia and hypogonadism with ovarian mosaicism.

An 18-year-old woman with anosmia and hypogonadotropic hypogonadism is presented. In addition endocrinologic evaluation revealed an apparent deficiency in pituitary growth hormone secretion in response to hypoglycemia and an ovarian insensitivity to exogenous gonadotropins. The ovaries, which on histologic examination appeared to be normal, upon karyotyping showed a chromosomal mosaicism, probably 46, XX/47, XXF+.