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Lysosomal storage disorders: A review of the musculoskeletal features
Author(s) -
James Rebecca A.,
SinghGrewal Davinder,
Lee SenqJ,
McGill Jim,
Adib Navid
Publication year - 2016
Publication title -
journal of paediatrics and child health
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.631
H-Index - 76
eISSN - 1440-1754
pISSN - 1034-4810
DOI - 10.1111/jpc.13122
Subject(s) - medicine , lysosomal storage disorders , hepatosplenomegaly , carpal tunnel syndrome , short stature , musculoskeletal disease , disease , lysosomal storage disease , intensive care medicine , pediatrics , pathology , surgery
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.