Anthony Lipson

Fetal brain damage in the rat following prenatal exposure to cocaine

The aim of this study was to identify fetal brain damage induced by 1) prenatal cocaine exposure or 2) physical procedures causing temporary constriction or occlusion of the uterine vessels in pregnant rats. Brains were examined from rat fetuses killed 48 hours after the dam was given one or more intraperitoneal doses of cocaine (50-70 mg/kg) on day 16 of gestation. Only brains from fetuses with hemorrhage in the extremities were examined, as this indicated they had undergone a circulatory disturbance. Four of the 10 brains examined showed bilateral necrosis and cavitation in the cerebral cortex. There were also hemorrhage and ectopic outgrowths in the corpus striatum, bilateral cavitation in the brainstem and vacuolization in the lens of the eye. A similar type and distribution of damage was seen in rat fetal brains from dams treated by temporary occlusion of the uterine vessels or direct handling of the pregnant uterus on day 16 of gestation and examined 48 hours later. It is proposed that the procedures act through the common mechanism of constriction/occlusion of the uterine vessels. The damage to the fetuses appears to be due to hemorrhage from the fetal vessels and ischemia. These findings are discussed in relation to cocaine use during human pregnancy.

Velo-cardio-facial and partial DiGeorge phenotype in a child with interstitial deletion at 10p13--implications for cytogenetics and molecular biology.

We report on a female with a interstitial deletion of 10p13 and a phenotype similar to that seen with the 22q deletion syndromes (DiGeorge/velo-cardio-facial). She had a posterior cleft palate, perimembranous ventricular septal defect, dyscoordinate swallowing, T-cell subset abnormalities, small ears, maxillary and mandibular hypoplasia, broad nasal bridge, deficient alae nasi, contractures of fingers and developmental delay. This could indicate homology of some developmental genes at 22q and 10p so that patients with the velocardiofacial phenotype who do not prove to be deleted on 22q are candidates for a 10p deletion.

Anal anomalies: an uncommon feature of velocardiofacial (Shprintzen) syndrome?

We report three cases of velocardiofacial syndrome (VCFS) with anal anomalies who have deletions of the 22q11 region and a further case where the proband has VCFS clinically and her father has an anal anomaly. It is important to consider VCFS in the differential diagnosis of children with anal anomalies and to look for other features of the syndrome, such as asymmetrical crying facies, submucous cleft of the palate, developmental delay, cardiac anomalies, and hypoparathyroidism.

Ependymoblastoma associated with prenatal exposure to diphenylhydantoin and methylphenobarbitone.

Ependymoblastoma developed in a 28‐month‐old girl whose epileptic mother took diphenylhydantoin and methylphenobarbitone throughout pregnancy. The child was also shown to be a genetic carrier for ornithine transcarbamylase deficiency, an x‐linked inborn error of urea cycle metabolism. The possibility of transplacental carcinogenesis should be considered, as other juvenile embryonic tumors such as neuroblastoma, melanotic neuroectodermal tumor, and mesenchymoma have been reported in offspring after diphenylhydantoin use by the mother during pregnancy.

EPIDEMIC RICKETS IN SYDNEY

In the period from January, 1969, to December, 1971, 19 cases of nutritional rickets were seen at the Royal Alexandra Hospital for Children. Only 2 were seen in the 5 years preceding this period. The clinical and sociological features of these children are reviewed. Most cases occurred in immigrant families from the Middle East or Southern Europe. They presented in the first year of life with significant associated morbidity. The study underlines the fact that rickets in these patients is primarily due to a deficient exposure to sunlight.