Abstract
Pycnodysostosis is a rare autosomal recessive disorder caused by mutations in the cysteine protease Cathepsin K gene located on chromosome 1q21. It has a well characterized skeletal phenotype which include short stature, generalized increased bone density with propensity of fractures, open calvarial sutures and fontanelle, dental abnormalities, obtuse mandibular angle, resorption of lateral end of clavicle, acro-osteolysis, and in some cases visceromegaly. Central nervous system involvement is very rare and porencephalic cysts has been reported only once, the cause being hypothesised to be an imbalance between the growing brain, its vascular supply and intraventricular fluid pressure. We had a patient with bilateral frontal lobe porencephalic cysts; the patient presenting with complex partial seizures. Cathepsins have been found to be involved in neurological diseases and role of proteases has been well established in gliosis.
Copyright
Association for Helping Neurosurgical Sick People. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-Non Derivative-Non Commercial License, permitting copying and reproduction so long as the original work is given appropriate credit.
Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)
This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License, which permits unrestricted reproduction and distribution, for non-commercial purposes only; and use and reproduction, but not distribution, of adapted material for non-commercial purposes only, provided the original work is properly cited.
