ArticleInsights into imaging2013
Imaging findings of mucopolysaccharidoses: a pictorial review.
Article in Insights into imaging, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers.
What it found
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Who cites it
41 citing papers in PubMed, 83 citations in OpenAlex.
- Neurophysiological Characteristics of Upper Extremity Neuropathy in Three Young Patients with Mucopolysaccharidosis Type I and II in a Five-Year Observation-A Case Series Study.Neurology international · 2026Article
- A pictorial essay of thoracic wall diseases: multiple pathologies in the same anatomical site.Insights into imaging · 2025Article
- Radiographic assessment of mucopolysaccharidoses: A pictorial review.World journal of clinical pediatrics · 2025Review
- Imaging hallmarks of mucopolysaccharidosis in a young Ethiopian boy: A case report.Radiology case reports · 2025Article
- Craniovertebral Junction Compression in Patients With Morquio Syndrome: Case Series and Literature Review.Cureus · 2025Article
- Atypical Neuroimaging Findings in a Patient With Mucopolysaccharidosis Type VII (Sly Syndrome).Cureus · 2024Article
- Capsular and retinaculum thickening in type II mucopolysaccharidosis: a novel MRI finding.Skeletal radiology · 2024Article
- Macrocephaly and Finger Changes: A Narrative Review.International journal of molecular sciences · 2024Review
- Mucopolysaccharidosis type II zebrafish model exhibits early impaired proteasomal-mediated degradation of the axon guidance receptor Dcc.Cell death & disease · 2024Article
- Hand Radiographs in Skeletal Dysplasia: A Pictorial Review.The Indian journal of radiology & imaging · 2024Review
- Modeling skeletal dysplasia in Hurler syndrome using patient-derived bone marrow osteoprogenitor cells.JCI insight · 2024Article
- Posterior Fossa Horns in Hurler Syndrome: Prevalence and Regression.AJNR. American journal of neuroradiology · 2023Article
- A pictorial review of the radiographic skeletal findings in Morquio syndrome (mucopolysaccharidosis type IV).Pediatric radiology · 2023Review
- Mucopolysaccharidosis Type I in Mexico: Case-Based Review.Children (Basel, Switzerland) · 2023Article
- Proteomics identifies novel biomarkers of synovial joint disease in a canine model of mucopolysaccharidosis I.Molecular genetics and metabolism · 2023Article
- Mucopolysaccharidosis Type 1 among Children-Neuroradiological Perspective Based on Single Centre Experience and Literature Review.Metabolites · 2023Article
- The reformatted sagittal spine on abdominal CT: structured approach to non-traumatic pathology.Emergency radiology · 2022Article
- Mucopolysaccharidosis type IV: report of 5 cases of Morquio Syndrome.Radiology case reports · 2022Article
- Proposal of an Algorithm to Early Detect Attenuated Type I Mucopolysaccharidosis (MPS Ia) among Children with Growth Abnormalities.Medicina (Kaunas, Lithuania) · 2022Article
- Early enzyme replacement therapy prevents dental and craniofacial abnormalities in a mouse model of mucopolysaccharidosis type VI.Frontiers in physiology · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionMucopolysaccharidosis (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
findingsRadiological 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.
conclusionThe 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.
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.