FATAL NEONATAL LACTIC-ACIDOSIS WITH RESPIRATORY INSUFFICIENCY DUE TO COMPLEX-I AND COMPLEX-IV DEFICIENCY

We present a newborn boy who died after 53 days of life in respiratory failure with lactic acidosis. Analysis of skeletal muscle mitochondri a demonstrated a combined defect in complexes I and IV of the respirat ory chain. The boy had severe muscle hypotonia but no signs of encepha lopathy, illustrating the variation in multi-organ presentation of mit ochondrial defects.