Pycnodysostosis: An Anaesthetic Approach to This Rare Genetic Disorder

Abstract

Pycnodysostosis (the Toulouse-Lautrec syndrome) is a rare autosomal-recessive disorder of osteoclast dysfunction. This disorder was first described by Maroteaux and Lamy in 1962. We describe anaesthetic management of a 35-year-old female having pyknodysostosis with fracture shaft left femur with anticipated difficult intubation. Therefore, spinal anesthesia was planned for her fracture fixation. The intra- and postoperative period remains uneventful.

Anaesthetic Considerations in a Patient with Pycnodysostosis undergoing Caesarean Delivery

“…Pycnodysostosis also called Toulouse-Lautrec syndrome was first described in 1923 and defined by Mareteux and Lamy in 1962 [ 5 ]. The disease is equally distributed on both sexes [ 6 ]. The gene responsible for pycnodysostosis is located on chromosome 1q21.…”

The role of cathepsin K in oral and maxillofacial disorders

“…The typical features of pycnodysostosis include short stature, an increase in the bone density of long bones, pathological fractures with poor healing, stubby hands and feet with dystrophic nails, and typical craniofacial features (Xue et al, 2011). Here, we summarized the typical craniofacial features of pycnodysostosis in 135 reported cases (Table 1) (Arman et al, 2014;Balaji et al, 2014;Berenguer et al, 2012;Caracas et al, 2012;Cortisse et al, 2012;Della Marca et al, 2012;Farronato et al, 2014;Girbal et al, 2013;Huang et al, 2015;Kamak et al, 2012;Kshirsagar et al, 2012;Kumar, 2014;Kyung and Horton, 2015;Ortegosa et al, 2014;Ozdemir et al, 2013;Pangrazio et al, 2014;Puri et al, 2013;Raposo-Amaral et al, 2013;Rohit et al, 2015;Singh et al, 2015;Singh and Sambandam, 2014;Tinsa et al, 2014;Utokpat et al, 2013;Xue et al, 2015;Ainola et al, 2008;Alibhai et al, 1999;Alves Pereira et al, 2008;Bathi and Masur, 2000;Bertola et al, 2010;Chavassieux et al, 2008;Chen et al, 2007;Dimitrakopoulos et al, 2007;Fonteles et al, 2007;Fratzl-Zelman et al, 2004;Frota et al, 2010;…”

Pycnodysostosis: a distinctive brittle bone disease?

“…The defective gene has been identified recently as that encoding cathepsin K, and PKND is now classified as a lysosomal disorder caused by defective tissuespecific expression of this enzyme. 3 We report a case with PKND, presents the maxillofacial clinical features, osteomyelitis of the jaw bone, multiple fractures of long bones and discuss management issues for this type of patient.…”