Henri de Toulouse-Lautrec (1864-1901) was initially thought to have had osteogenesis imperfecta. However, following the description of pycnodysostosis as a new genetic skeletal dysplasia, Maroteaux and Lamy concluded that this was Toulouse-Lautrec’s affliction (Figure1). He, in fact, presented all the clinical features suggestive of this diagnosis, in addition to parental consanguinity. Toulous...

Introduction Pycnodysostosis (PDO) is a rare autosomal recessive lysosomal storage disease of the bone caused by a mutation in a gene mapped to chromosome 1q21 that codes for the enzyme cathepsin K (CTSK). Pycnodysostosis (Greek: pycnos = dense; dys = defective; osteon = bone) was first coined in 1962 by Maroteaux and Lamy [1], although the first case fitting the description may have been repor...

INTRODUCTION Mucopolysaccharidoses (MPS) are a group of inherited disorders due to lysosomal enzyme deficiencies. The aims of this study are to describe the neuroimaging findings in children evaluated in our hospital with this diagnosis, looking for a possible correlation of these alterations with the type of MPS and clinical severity, and finally to compare these findings with those previously...

Maroteaux-Lamy disease, also known as mucopolysaccharidosis (MPS) VI, is an MPS disorder caused by mutations in the ARSB gene encoding for the lysosomal enzyme arysulfatase B (ARSB). Deficient ARSB activity leads to lysosomal accumulation of dermatan sulfate in a wide range of tissues and organs. There are various animal models of MPS VI that have been well characterized from a biochemical and ...

Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) is a very rare inherited lysosomal storage disease. We evaluated the efficacy and safety of weekly infusions of recombinant human arylsulfatase B as enzyme replacement therapy for two patients in whom this condition was advanced. The primary outcome variables were the distance walked in a 6-minute walk test, forced vital capacity, and ejection ...

INTRODUCTION [corrected] Advanced bone maturation is a radiographic feature that might be encountered in a number of different forms of skeletal dysplasias such as Desbuquois dyspalsia, Larsen syndrome, the Reunion Island form of Larsen syndrome, diastrophic dysplasia, acrodysostosis, Catel-Manzke syndrome, a variant of metatropic dysplasia and Maroteaux-lamy syndrome. CASE PRESENTATION We re...