AFGHAN MUTATION OF CA-II GENE

OSTEOPETROSIS AND CARBONIC ANHYDRASE II DEFICIENCY WITH CRANIOFACIAL DISPROPORTION IN AN AFGHAN CHILD

Abstract

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 lesions3 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.