Proposal of an Algorithm to Early Detect Attenuated Type I Mucopolysaccharidosis (MPS Ia) among Children with Growth Abnormalities

Baronio, Federico; Zucchini, Stefano; Zulian, Francesco; Salerno, Mariacarolina; Parini, Rossella; Cattoni, Alessandro; Deodato, Federica; Gaeta, Alberto; Bizzarri, Carla; Gasperini, Serena; Pession, Andrea

doi:10.3390/medicina58010097

Cited by 3 publications

(1 citation statement)

References 19 publications

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“…It aimed at improving the clinical awareness of MPS 1, especially its attenuated forms. The mentioned algorithm was established on the basis of clinical and radiological features accompanying growth retardation [ 38 ]. These children are reviewed by general and pediatric radiologists most of the time; therefore, drawing their attention to distinctive skeletal abnormalities is necessary.…”

Section: Discussionmentioning

confidence: 99%

Mucopolysaccharidosis Type 1 among Children—Neuroradiological Perspective Based on Single Centre Experience and Literature Review

Machnikowska-Sokołowska

Myszczuk²,

Wieszała

et al. 2023

Metabolites

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Mucopolysaccharidosis 1 (MPS 1) is a group of rare lysosomal genetic disorders resulting from the accumulation of undegraded glycosaminoglycans (GAGs) leading to multiorgan damage. Neurological symptoms vary from mild to severe. Neuroimaging—mainly magnetic resonance (MRI)—plays a crucial role in disease diagnosis and monitoring. Early diagnosis is of the utmost importance due to the necessity of an early therapy implementation. New imaging tools like MR spectroscopy (MRS), semiquantitative MRI analysis and applying scoring systems help substantially in MPS 1 surveillance. The presented analysis of neuroimaging manifestations is based on 5 children with MPS 1 and a literature review. The vigilance of the radiologist based on knowledge of neuroradiological patterns is highlighted.

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Section: Discussionmentioning

confidence: 99%

Mucopolysaccharidosis Type 1 among Children—Neuroradiological Perspective Based on Single Centre Experience and Literature Review

Machnikowska-Sokołowska

Myszczuk²,

Wieszała

et al. 2023

Metabolites

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How to Distinguish Attenuated Forms of Mucopolysaccharidosis and Articular Forms of Juvenile Arthritis: Development of Diagnostic Algorithm Based on the Data from Multicenter Retrospective Study

Buchinskaya¹,

Вашакмадзе

Журкова

et al. 2023

Vopr. sovr. pediatr.

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Background. Differential diagnosis of attenuated forms of mucopolysaccharidosis (MPS) and juvenile idiopathic arthritis (JIA) can be challenging due to their similarities. Objective. The aim of the study is to create simple diagnostic criteria (DScore) that would allow to differentiate MPS from JIA for earlier MPS diagnosis. Methods. The retrospective multicenter study included analysis of clinical (joint, heart, eye involvement, hearing loss, hernias, psychomotor delay, noisy breathing, posture disorders, macrocephaly, hepatomegaly, splenomegaly, and growth delay) and laboratory data (ESR, CRP, hemoglobin, WBC, and platelets) from MPS patients (n = 41) and from rheumatoid factor-negative polyarticular category of JIA patients (n = 255). These variables allowed to differentiate both conditions and were used to create DScore. Results. Patients with MPS had younger onset age, male predominance, height and weight delay, lower inflammation markers (WBC, platelets, and ESR), and usually involved joints, especially cervical spine, upper limbs joints, hip, and small foot joints. The prevalence of eye involvement was similar for both diseases, however, the type of involvement was different. JIA patients had uveitis and its’ complications and MPS patients — corneal opacity and cataract. No differences in CRP levels were revealed in most cases. The major diagnostic criterion of MPS was the presence of more than one extra-articular manifestation associated with polyarticular involvement. DScore has included 5 following criteria: ESR ≤ 11 mm/h (38 points), height ≤ -2.0 SD (20 points), onset age of articular manifestations ≤ 1.1 year (24 points), male gender (15 points), and symmetrical limitation of movements in elbow joints (29 points). The sum > 38 points allowed us to differentiate MPS and JIA with sensitivity of 92.7% and specificity of 91.0%. Conclusion. This DScore can be used for differential diagnosis of mild MPS and JIA alongside with routine diagnostic procedures. DScore allows us to identify a group of patients with joint involvement who require MPS exclusion.

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Mucopolysaccharidosis: What Pediatric Rheumatologists and Orthopedics Need to Know

2022

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Mucopolysaccharidosis (MPS) is a group of disorders caused by the reduced or absent activity of enzymes involved in the glycosaminoglycans (GAGs) degradation; the consequence is the progressive accumulation of the substrate (dermatan, heparan, keratan or chondroitin sulfate) in the lysosomes of cells belonging to several tissues. The rarity, the broad spectrum of manifestations, the lack of strict genotype-phenotype association, and the progressive nature of MPS make diagnosing this group of conditions challenging. Musculoskeletal involvement represents a common and prominent feature of MPS. Joint and bone abnormalities might be the main clue for diagnosing MPS, especially in attenuated phenotypes; therefore, it is essential to increase the awareness of these conditions among the pediatric rheumatology and orthopedic communities since early diagnosis and treatment are crucial to reduce the disease burden of these patients. Nowadays, enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation (HSCT) are available for some MPS types. We describe the musculoskeletal characteristics of MPS patients through a literature review of MPS cases misdiagnosed as having rheumatologic or orthopedic conditions.

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Proposal of an Algorithm to Early Detect Attenuated Type I Mucopolysaccharidosis (MPS Ia) among Children with Growth Abnormalities

Cited by 3 publications

References 19 publications

Mucopolysaccharidosis Type 1 among Children—Neuroradiological Perspective Based on Single Centre Experience and Literature Review

Mucopolysaccharidosis Type 1 among Children—Neuroradiological Perspective Based on Single Centre Experience and Literature Review

How to Distinguish Attenuated Forms of Mucopolysaccharidosis and Articular Forms of Juvenile Arthritis: Development of Diagnostic Algorithm Based on the Data from Multicenter Retrospective Study

Mucopolysaccharidosis: What Pediatric Rheumatologists and Orthopedics Need to Know

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