Primary hyperoxaluria in a neonate

Primary hyperoxaluria can frequently be controlled by high dose pyridoxine therapy (1, 2). It can also run a severe course causing renal damage and death within the first few years of life (3). It is therefore desirable to try and diagnose the condition as early in life as possible. Often the first sib in a family is only found to have primary hyperoxaluria after severe renal damage has been caused. However, all subsequent sibs should then be investigated very early in life so that if another case is found treatment can be started before serious damage has occurred. Here we describe exactly that sequence of events in which one sib died of primary hyperoxaluria but when the next sib was found at a very early age to have the same disease he was treated with pyridoxine and has thrived. In this case the mother was anxious that had it been possible to prove that the fetus had primary hyperoxaluria then the pregnancy should have been terminated. To this end measurements were made of oxalate in the amniotic fluid of the fetus at risk and of six other samples from presumed normal controls.