Philippe Labrune

An adolescent was hospitalized for recurring abdominal pains, which had previously led to appendicectomy. Laboratory data finally led to the diagnosis of hereditary angioneurotic oedema, after several hypotheses had been raised and ruled out. Angioneurotic oedema is a rare condition, which should be suspected in children with recurring abdominal pains, especially when there is liquid within the peritoneal cavity.

Summary: Eleven patients with glycogen storage disease type Ib (GSD Ib) were studied. Using a combination of single‐strand conformation polymorphism (SSCP) analysis, restriction enzyme digestion and direct sequencing, we were able to identify 21/22 mutant alleles comprising 12 different mutations in the glucose‐6‐phosphate translocase gene (G6PT). Among these, one is a novel mutation of G6PT: 855T>;C (L229P).

Apolipoprotein E (apo E) is pivotal in lipid metabolism. In women with preeclampsia, an atherogenic state is observed. We hypothesized that a particular genotype of apo E may be associated with preeclampsia. Genomic DNA was extracted from 55 normotensive and 49 preeclamptic women (defined according to the American College of Obstetricians and Gynecologists criteria). DNA was amplified by PCR and digested simultaneously by AflIII and HaeII giving profiles identifying all the possible genotypes of apo E. The most common isoform apo E3 was found both for normotensive and preeclamptic women (76% and 85%, respectively). The frequency of apo E2 and E4, which are more atherogenic, was not higher in the preeclamptic population. We were unable to demonstrate that the "atherogenic state" of preeclampsia is associated with a particular genotype of apo E. Familial studies show that shared genetic and environmental factors are involved in lipid variability. However, owing to the diversity of factors contributing to the development of preeclampsia (fetal and paternal genotypes), these data do not allow to rule-out a possible contribution of maternal apo E to preeclampsia.

Three children with Jeune syndrome (asphyxiating thoracic dystrophy) had clinical and laboratory evidence of liver disease. In two patients the disease evolved to biliary cirrhosis, whereas in the third it was recognized when extensive fibrosis was developing. In the three patients, treatment with ursodeoxycholic acid appeared to control the progression of the hepatic dysfunction. Am. J. Med. Genet. 87:324–328, 1999.