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| CASE REPORT |
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| Year : 2003 |
Volume
: 14 | Issue : 1 | Page
: 70-74 |
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Paralysis Episodes in Carbonic Anhydrase II Deficiency
Alia Al-Ibrahim, Mosa Al-Harbi, Sulaiman Al-Musallam
Nephrology Section, Suleimania Children’s Hospital, Riyadh, Saudi Arabia
Correspondence Address:
Alia Al-Ibrahim
Consultant Pediatrician and Nephrologist, Head, Section of Pediatric Nephrology, Suleimania Children’s Hospital, P.O. Box 59046, Riyadh 11525
Saudi Arabia
 Source of Support: None, Conflict of Interest: None  | Check |
PMID: 17657093 
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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. |
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