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Type:
Educational Exhibit
Keywords:
Connective tissue disorders, Congenital, Imaging sequences, MR, Digital radiography, CT, Musculoskeletal spine, Musculoskeletal system, Musculoskeletal bone
Authors:
A. Semprini1, A. Leone2, L. Tonetti1, V. Zecchi2, M. Marino1, C. Colosimo2; 1Roma/IT, 2Rome/IT
DOI:
10.1594/ecr2016/C-0508
Background
MPS represent a rare group of inheritable lysosomal storage diseases caused by genetic mutations of enzymes involved in catabolism of different long-chain complex carbohydrates known as mucopolysaccharides or glycosaminoglycans (GAGs) [1].
Enzyme deficiency or malfunction gives rise to abnormal development and maturation of cartilage and bone as well as partly degraded GAGs deposits in the meninges and supporting ligaments,
resulting in clinically heterogeneous multisystemic diseases.
MPS were originally described by Hunter in 1917 [2] and then many similar cases were described during the following years.
To date,
seven distinct clinical types and numerous subtypes of MPS have been identified,
each one characterized by various residual enzymatic activity and,
consequently,
different biochemical and clinical features [3] (Table 1).
Table 1: Classification of MPS.
References: Leone A et al. (2015) Spinal Involvement in mucopolysaccharidoses: a review. Childs Nerv Syst 31:203-212.
The pattern of musculoskeletal anomalies,
due to defective endochondral and membranous growth throughout the body,
is known as dysostosis multiplex [4].
Spinal involvement is a common feature in patients with MPS,
with a substantial increase of morbidity and mortality,
especially in MPS IVA,
VI and I [1].