A CASE OF ADENOSINE-DEAMINASE - NEGATIVE SEVERE COMBINED IMMUNODEFICIENCY WITH NEUROLOGICAL ABNORMALITIES

Presented here is a 17-month-old adenosine deaminase-deficient, severe combined immunodeficient patient with chest symptoms, oral ulcer, neu rologic manifestations, head lag, spasticity and developmental delay i n motor functions. Antibiotics, systemic antifungal agents, intravenou s immunoglobulins and partial exchange transfusions with irradiated fr esh red cells were given. No other mode of therapy for adenosine deami nase (ADA) deficiency was available at that time. Amelioration of neur ologic manifestations within one month of therapy with irradiated fres h red cell exchange transfusions suggests that these manifestations ma y have resulted from accumulated toxic metabolites. However, no Improv ement was seen in the course of infection and oral ulcer, and the pati ent died of respiratory failure on the 48(th) day of admission.