THE FOLLOWING ARTICLE is written to draw to the attention of all physicians a clinical syndrome which can lead to severe mental retardation or death in the neonate if it goes unrecognized, while early recognition and treatment will result in dramatic and prompt relief of symptoms and subsequent normal development. Two case reports from one family serve as illustrative examples of the diagnostic problems, therapy, and prognosis. The patient in case 1 is suspected of having had the disorder although there is no actual proof of this. Case 2 illustrates most of the characteristic symptoms of the syndrome with a dramatic response to therapy.
Report of Cases
This male infant was born Oct 22, 1962 after a full-term uncomplicated pregnancy. The delivery was precipitous and the child was apneic and cyanotic at birth. During the night he was reported to have had intermittent irregularities of breathing, tonic seizures,
Robins MM. Pyridoxine Dependency Convulsions in a Newborn. JAMA. 1966;195(6):491–493. doi:10.1001/jama.1966.03100060131042