Cerebral calcification, osteopetrosis and renal tubular acidosis: is it carbonic anhydrase-II deficiency?

Carbonic anhydrase-II deficiency is an autosomal recessive disorder with a triad of cerebral calcification,osteopetrosis and renal tubular acidosis (often combined proximal and distal). Mental retardation,growth failure,complications of osteopetrosis and other features were all recorded in this syndrome. We present a case of an Iraqi male with all these features and a positive family history.