Carbonic anhydrase-II deficiency is an autosomal recessive disorder groundedon a triad of cerebral calcification, osteopetrosis and renal tubular acidosis away in whichproximal tubules, distal collecting ducts or combined.1 Other features include growth andmental retardation along with the complications of osteopetrosis.2 The only treatment to curethe calcification is allogeneic bone marrow stem cell replacement; however it does not have anyconsiderable effect on the renal lesions3 We report a case of a 3 week old male child of Afghanorigin with all these features who was clinically diagnosed as having carbonic anhydrase type IIdeficiency however unfortunately the baby passed during cranioplasty and genetic testing forenzyme deficiency could not be done. Our aim to present this case of a male child of Afghanorigin is to enhance the awareness about this rare syndrome in our medical community andinviting further research for a possible Afghan mutation of CA-II gene.

Carbonic anhydrase-II deficiency is an autosomal recessive disorder grounded on a triad of cerebral calcification, osteopetrosis and renal tubular acidosis away in which proximal tubules, distal collecting ducts or combined. 1 Other features include growth and mental retardation along with the complications of osteopetrosis. 2 The only treatment to cure the calcification is allogeneic bone marrow stem cell replacement; however it does not have any considerable effect on the renal lesions 3 We report a case of a 3 week old male child of Afghan origin with all these features who was clinically diagnosed as having carbonic anhydrase type II deficiency however unfortunately the baby passed during cranioplasty and genetic testing for enzyme deficiency could not be done. Our aim to present this case of a male child of Afghan origin is to enhance the awareness about this rare syndrome in our medical community and inviting further research for a possible Afghan mutation of CA-II gene.