Familial intrauterine convulsions in pyridoxine dependency.

Pyridoxine dependency is a relatively rare congenital metabolic disturbance. To date 16 patients have been reported who survived (Schmidt, 1964), and probably 7 of their sibs died because the disease was not recognized in time. The present report concerns the first cases observed in Czechoslovakia. Intrauterine convulsions are even rarer. Only two cases have been described (Badr-El-Din, 1960; Isler, 1964) and one mentioned in passing (Ford, 1960). Only one author (Badr-El-Din, 1960) mentions familial intrauterine convulsions, but there was no suggestion of a connexion between familial intrauterine convulsions and either congenital metabolic disturbance or pyridoxine dependency. For this reason we think our observations will be of interest. The present report concerns three sibs, in all of whom the mother noted intrauterine convulsions: the first two died in status epilepticus. The third survived thanks to pyridoxine treatment, and biochemical studies were undertaken after birth.