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Neuropediatrics 1988; 19(3): 162-165
DOI: 10.1055/s-2008-1052422
Case report

© Georg Thieme Verlag KG Stuttgart · New York

The Syndrome of Osteopetrosis, Renal Acidosis and Cerebral Calcification in Two Sisters

S. Al Rajeh , M. I. El Mouzan , A.  Ahlberg , D.  Ozaksoy
  • Department of Neurology, Pediatrics, Orthopedic Surgery and Radiology, King Fahd Hospital of the University, King Faisal University, P.O. Box 2114, Dammam 31451, Saudi Arabia
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Publication History

Publication Date:
19 May 2008 (online)

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Abstract

The syndrome of osteopetrosis associated with renal tubular acidosis and cerebral calcification, inherited as an autosomal recessive disorder, as seen in two sisters, is described. The primary defect in this rare syndrome is deficiency of carbonic anhydrase (CA) II. Significant reduction in blood levels of CA II were found in both parents and another sister, suggesting that these individuals are heterozygotic carriers.

Key words

Osteopetrosis - Renal acidosis - Cerebral calcification - Carbonic anhydrase deficiency