Complex acid-base disorders in subacute necrotizing encephalomyelopathy (Leigh's syndrome).
This report describes a case of subacute necrotizing encephalomyelopathy (Leigh's syndrome) in a 7-month-old boy. The clinical data suggest an association with a disorder of renal tubular acidification, characterized by both (proximal) type II and (distal) type I renal tubular acidosis (hybrid type). Concomitantly, the initial uncompensated metabolic acidosis evolved into a mixed metabolic acidosis and respiratory alkalosis-features of this syndrome not previously reported.
D000137:Acid-Base Imbalance / Q000188:drug therapy / Q000209:etiology*; D000138:Acidosis / Q000188:drug therapy / Q000209:etiology; D000141:Acidosis, Renal Tubular / Q000188:drug therapy / Q000209:etiology; D000472:Alkalosis, Respiratory / Q000188:drug therapy / Q000209:etiology; D001639:Bicarbonates / Q000627:therapeutic use; D001933:Brain Stem; D002245:Carbon Dioxide / Q000097:blood; D004678:Encephalomalacia / Q000150:complications*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000150:complications; D008297:Male; D011596:Psychomotor Disorders / Q000150:complications; D013577:Syndrome
D001639:Bicarbonates; D002245:Carbon Dioxide