Akademik Veri Yönetim Sistemi
İskelet Displazileri, İlhan Sezgin, Editör, Türkiye Klinikleri Yayınevi, Ankara, ss.58-65, 2019
Lysosomal storage disorders (LSD) are a group of about 50 inherited metabolic diseases
characterised by an accumulation of waste products in the lysosomes because of enzymatic defects.
These diseases can affect different parts of the body such as skeleton, brain, skin, heart, and central
nervous system. The incidence of LSDs is estimated to be approximately 1:5.000 live births in medical
circles. In terms of the clinical presentation, LSD is usually a neurodegenerative disease of
infancy/childhood. Lysosomal storage diseases consist of various diseases such as aspartylglucosaminuria,
cystinosis, Fabry’s disease, Gaucher’s disease, mucopolysaccharidoses, mucolipidosis
etc. Some of the lysosomal storage diseases have skeletal abnormalities called dysostosis multiplex.
The concept of dysostosis multiplex includes certain radiographic skeletal findings, mainly macrocephaly,
thickened cortical bone/calvarium, J-shaped sella turcica, malformations of the vertebral
bodies, genu valgum, hip dysplasia and facial anomalies like mandibular prognatism. This article describes
lysosomal storage diseases accompanied with skeletal involvement.