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.Case Reports Case 1.In 1962 a girl, A.B., was first seen at 1 month of age.She was the first child (first pregnancy) of healthy unrelated parents, in whom there was no relevant family history.The mother was well throughout pregnancy, but following the birth of the second child volunteered that she had been aware of abnormal paroxysmal movements before the birth of both the first 2 children.At birth the infant weighed 3400 g. and measured 51 cm.Delivery was normal, but breathing was difficult from the start, with intercostal recession during inspiration.After birth the child's condition kept changing; at times she was flaccid and the Moro reflex abolished, then she became irritable, agitated, and cried with an abnormal voice, and the extremities were held in abduction, so that the child looked as though it were crucified, the upper extremities in extension, the