J Pediatr Genet 2019; 08(02): 091-094
DOI: 10.1055/s-0038-1675781
Case Report
Georg Thieme Verlag KG Stuttgart · New York

Report of Another Mutation Proven Case of Carbonic Anhydrase II Deficiency

Amit Kumar Satapathy
1  Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India
,
Swati Pandey
1  Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India
,
Madhumita Roy Chaudhary
1  Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India
,
Arvind Bagga
1  Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India
,
Madhulika Kabra
1  Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India
,
Kornak Uwe
2  Institute of Medical Genetics and Human Genetics, Berlin, Germany
,
Neerja Gupta
1  Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India
› Author Affiliations
Funding None.
Further Information

Publication History

29 July 2018

02 October 2018

Publication Date:
18 November 2018 (eFirst)

Abstract

Carbonic anhydrase (CA) II deficiency results in an uncommon type of autosomal recessive sclerosing bone dysplasia with renal tubular acidosis and intracerebral calcification. We report a classic case of CA II-associated osteopetrosis with a previously reported homozygous frameshift mutation. Child was evaluated for short stature and failure to thrive. He was diagnosed as osteopetrosis in view of the presence of hepatosplenomegaly and increased bone density though hematological parameters were normal. Further evaluation showed presence of associated distal renal tubular acidosis raising a possibility of CA II deficiency. Mutation analysis revealed a previously reported homozygous frameshift mutation c.143-146delCTGT (p.Ser48Phefs*9) in CA2.Child has normal growth after initiation of alkali therapy.

Authors' Contribution

S.P. and A.K.S. managed the case. A.K.S., S.P., and N.G. prepared the manuscript. K.U. helped in molecular diagnosis and analysis. M.R.C. and N.G. were involved in prenatal diagnosis. M.K., N.G., and A.B. critically revised the manuscript and N.G. will act as guarantor.