Ultrasound detection of congenital arteriovenous aneurysm of the great cerebral vein of Galen.

Using combined echoencephalography and Doppler flow determination the diagnosis Arteriovenous aneurysm of the great cerebral vein of Galen could be made in two infants. Without vascular surgery one patient died, the other recovered completely. CT scanning confirmed the diagnosis.

Glucosephosphate isomerase deficiency, a new variant in a Dutch family. Case report.

The clinical course and the biochemical findings are reported from a patient suffering from glucosephosphate isomerase (G.P.I EC 5.

A new variant of glucosephosphate isomerase deficiency.

A new variant of glucose-6-phosphate isomerase deficiency is described. The enzyme kinetics and properties were studied. Genetic and electrophoretic data pointed to a double heterozygous state in the patient.