The Guilbaud-Vainsel Syndrome Patient Presenting with Quadriparesis

Guilbaud-Vainsel syndrome is characterized by osteopetrosis, renal tubular acidosis, and intracerebral calcification. Guilbaud syndrome is also called marble brain disease. It can be seen as a result of carbonic anhydrase II deficiency and is inherited autosomal recessively. carbonic anhydrase II is 1 of the 7 soluble isoenzymes synthesized in the kidney, bone, brain, and lungs. It is more common in children, and it is rarely seen in adults. The aim of this article is to discuss, in line with the literature, Guilbaud-Vainsel syndrome in a 28-year-old patient with quadriparesis due to hypokalemia.

Cite this article as: Hüzmeli C. The Guilbaud-Vainsel syndrome patient presenting with quadriparesis. Turk J Nephrol. 2022;31(1):78-80.