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Imaging findings of mucopolysaccharidoses: a pictorial review.

ABSTRACT: INTRODUCTION: Mucopolysaccharidosis (MPS) represent a heterogeneous group of inheritable lysosomal storage diseases in which the accumulation of undegraded glycosaminoglycans (GAGs) leads to progressive damage of affected tissues. The typical symptoms include organomegaly, dysostosis multiplex, mental retardation and developmental delay. Definitive diagnosis is usually possible through enzymatic assays of the defective enzyme in cultured fibroblasts or leukocytes. IMAGING FINDINGS: Radiological and neuroradiological findings are reported. The most important neuroradiological features include abnormal signal intensity in the white matter, dilatation of periventricular spaces, widening of cortical sulci, brain atrophy, enlargement of extraventricular spaces and spinal cord compression. With reference to the skeletal system, most important radiological findings include multiplex dysostosis, which is represented by several bone malformations found in the skull, hands, legs, arms and column. The abnormal storage of GAGs leads to liver and spleen enlargement; it also damages cartilage layers and synovial recesses in the joints. CONCLUSION: The aim of this pictorial essay is to describe the imaging findings of MPS, represented by skeletal and neurological features; skeletal X-ray and MR allow an assessment of the severity of disease, to plan medical and surgical therapy and to evaluate response to treatment. TEACHING POINTS: • To describe the imaging findings common to different types of MPS. • To describe multiplex dysostosis encountered in the axial and appendicular skeleton. • To evaluate neuroradiological features of MPS, including brain abnormal signal intensity and atrophy. • To evaluate important otorhinolaryngological problems, such as otitis media and airways obstruction.

SUBMITTER: Palmucci S

PROVIDER: S-EPMC3731470 | biostudies-other | 2013 Aug

REPOSITORIES: biostudies-other

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Imaging findings of mucopolysaccharidoses: a pictorial review.

Palmucci Stefano S Attinà Giancarlo G Lanza Maria Letizia ML Belfiore Giuseppe G Cappello Giuseppina G Foti Pietro Valerio PV Milone Pietro P Di Bella Domenico D Barone Rita R Fiumara Agata A Sorge Giovanni G Ettorre Giovanni Carlo GC

Insights into imaging 20130505 4

<h4>Introduction</h4>Mucopolysaccharidosis (MPS) represent a heterogeneous group of inheritable lysosomal storage diseases in which the accumulation of undegraded glycosaminoglycans (GAGs) leads to progressive damage of affected tissues. The typical symptoms include organomegaly, dysostosis multiplex, mental retardation and developmental delay. Definitive diagnosis is usually possible through enzymatic assays of the defective enzyme in cultured fibroblasts or leukocytes.<h4>Imaging findings</h4> ...[more]

PMID: 23645566

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Project description:Primary biliary cholangitis (PBC) is a rare chronic autoimmune-mediated cholestatic liver disease involving medium and small bile ducts that can lead to liver fibrosis and cirrhosis. To date, the pathogenesis of PBC remains elusive, and there is currently no curative medical treatment. Computed tomography (CT) and magnetic resonance (MR) imaging, as common technical tools that allow non-invasive monitoring of liver tissue in vivo, play crucial roles in the diagnosis, staging, and prognosis prediction in PBC by enabling assessment of abnormalities in liver morphology and parenchyma, irregular configuration of bile ducts, lymphadenopathy, portal hypertension, and complications of cirrhosis. Moreover, CT and MRI can be used to monitor the disease progression after treatment of PBC (e.g. the onset of cirrhotic decompensation or HCC) to guide the clinical decisions for liver transplantation. With the optimization of imaging technology, magnetic resonance elastography (MRE) offers additional information on liver stiffness, allows for the identification of early cirrhosis in PBC and provides a basis for predicting prognosis. Gadoxetic acid-enhanced MRI enables the assessment of liver function in patients with PBC. The purpose of this review is to detail and illustrate the definition, pathological basis, and clinical importance of CT and MRI features of PBC to help radiologists and clinicians enhance their understanding of PBC.Critical Relevance StatementCharacteristic CT and MR imaging manifestations of primary biliary cholangitis may reflect the course of the disease and provide information associated with histological grading and altered cellular function.Key points• Imaging has become highly useful for differentiating PBC from other diseases.• Key pathological alterations of PBC can be captured by CT and MRI.• Characteristic manifestations provide information associated with histological grade and cellular function.• Despite this, the CT or MRI features of PBC are not specific.

Dataset Information

Imaging findings of mucopolysaccharidoses: a pictorial review.

Publications

Imaging findings of mucopolysaccharidoses: a pictorial review.

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