Anila Faisal, Amarah Kiani, Ahsen Farooq.
Afghan mutation of CA-II gene; osteopetrosis and carbonic anhydrase II deficiency with craniofacial disproportion in an Afghan child.
Professional Med J Jan ;23(06):756-9.

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 isallogeneic 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.

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