title: Lysosomal storage disorders: A review of the musculoskeletal features.
abstract: The lysosomal storage disorders are a collection of progressive, multisystem disorders that frequently present in childhood. Their timely diagnosis is paramount as they are becoming increasingly treatable. Musculoskeletal manifestations often occur early in the disease course, hence are useful as diagnostics clues. Non-inflammatory joint stiffness or pain, carpal tunnel syndrome, trigger fingers, unexplained pain crises and short stature should all prompt consideration of a lysosomal storage disorder. Recurrent ENT infections, hepatosplenomegaly, recurrent hernias and visual/hearing impairment - especially when clustered together - are important extra-skeletal features. As diagnostic and therapeutic options continue to evolve, children with lysosomal storage disorders and their families are facing more sophisticated options for screening and treatment. The aim of this article is to highlight the paediatric presentations of lysosomal storage disorders, with an emphasis on the musculoskeletal features.
authors.affiliation: Department of Rheumatology, Royal Children's Hospital, Melbourne, Victoria.
authors.forename: Rebecca A
authors.initials: RA
authors.lastname: James
authors.affiliation: Department of Rheumatology, Children's Hospital at Westmead, Sydney, New South Wales.
authors.forename: Davinder
authors.initials: D
authors.lastname: Singh-Grewal
authors.affiliation: Department of Rheumatology, Princess Margaret Hospital, Perth, Western Australia.
authors.forename: Senq-J
authors.initials: SJ
authors.lastname: Lee
authors.affiliation: Department of Metabolic Medicine, Lady Cilento Children's Hospital, South Brisbane.
authors.forename: Jim
authors.initials: J
authors.lastname: McGill
authors.affiliation: Queensland Paediatric Rheumatology Services, Wesley Hospital, Brisbane, Queensland, Australia.
authors.forename: Navid
authors.initials: N
authors.lastname: Adib
mesh_terms: D000293:Adolescent; D017677:Age Distribution; D002648:Child; D002675:Child, Preschool; D015897:Comorbidity; D042241:Early Diagnosis; D005260:Female; D006801:Humans; D015994:Incidence; D007223:Infant; D007231:Infant, Newborn; D016464:Lysosomal Storage Diseases / Q000175:diagnosis* / Q000453:epidemiology* / Q000628:therapy; D008297:Male; D009140:Musculoskeletal Diseases / Q000175:diagnosis / Q000453:epidemiology* / Q000628:therapy; D015997:Neonatal Screening / Q000458:organization & administration*; D011379:Prognosis; D011788:Quality of Life; D018570:Risk Assessment; D012720:Severity of Illness Index; D017678:Sex Distribution; D016019:Survival Analysis
keywords: Fabry disease; Gaucher disease; joint contracture; lysosomal storage disorder; mucopolysaccharidosis