CEN Case Rep 2016 May 8;5(1):108-112. Epub 2015 Dec 8.
Department of Medicine (38), College of Medicine, King Saud University, P.O. Box 2925, Riyadh, 11461, Kingdom of Saudi Arabia.
Carbonic anhydrase II (CAII) deficiency is an autosomal recessive disorder characterized by renal tubular acidosis, osteopetrosis, recurrent bone fractures, renal stones, growth failure, and mental retardation. Several cases have been reported in Saudi Arabia with homozygous mutations in CA2 consistent with a high degree of consanguinity. We report a case of carbonic anhydrase II deficiency with short stature, mixed renal tubular acidosis, recurrent bone fractures due to trivial trauma, recurrent renal stones and cerebral calcification. Read More