Paralysis episodes in carbonic anhydrase II deficiency

Abstract EN

Carbonic anhydrase II (CAII) deficiency is an autosomal recessive disorder manifest by osteopetrosis, renal tubular acidosis, and cerebral calcification.

Other features include growth failure and mental retardation.

Complications of the osteopetrosis include frequent bone fractures, cranial nerve compression, and dental mal-occlusion.

A hyperchloremic metabolic acidosis, sometimes with hypokalemia, occurs due to renal tubular acidosis that may be proximal, distal, or more commonly, the combined type.

Such patients may present with global hypotonia, muscle weakness or paralysis.

We report a case of CA II deficiency with recurrent attacks of acute paralysis which was misdiagnosed initially as Guillian-Barre syndrome.