The mucopolysaccharidoses: a clinical review and guide to management.

Je, Wraith

doi:10.1136/adc.72.3.263

Cited by 198 publications

(192 citation statements)

References 11 publications

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“…The MPS have been historically subdivided into different types depending on clinical manifestations and they encompass a wide spectrum of phenotypes, ranging from those disorders, which are fatal in the first months of life to those compatible with a normal lifespan. 1,2 The MPS result from inherited abnormalities of specific lysosomal enzymes involved in degradation of GAG 3 (Table 1).…”

Section: Introductionmentioning

confidence: 99%

“…This manifests as a phenotypic spectrum of skeletal, cardiac, and respiratory problems. 3,15 MPS IH Hurler syndrome presents with facial dysmorphism and respiratory disease in early life, and patients may be referred to the ophthalmologist once the diagnosis is already made for detection of associated corneal opacification. 15 Retinopathy is a common complication in older children with MPS IH but may be difficult to detect because of corneal opacity.…”

Section: Introductionmentioning

confidence: 99%

“…MPS IS Scheie has milder systemic and ophthalmic manifestations, and MPS IH/S Hurler/ Scheie is an intermediate phenotype. 3 Hunter syndrome (MPS II) exhibits a wide variation in clinical severity, with seizures and learning difficulties as common features. 3 MPS III Sanfilippo results from defects in four different enzymes (Table 1), which result in clinically indistinguishable phenotypes.…”

Section: Introductionmentioning

confidence: 99%

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The ocular features of the mucopolysaccharidoses

Ashworth

Biswas

Wraith

et al. 2005

Eye

127

193

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Aims The mucopolysaccharidoses (MPS) are a heterogeneous group of rare disorders characterised by accumulation of glycosaminoglycans within multiple organ systems. This study aimed to determine the prevalence and severity of ocular complications in patients with MPS. Methods Clinical ophthalmic features and electrodiagnostic results of 50 patients with a diagnosis of MPS were retrospectively reviewed. Results A total of 79% of MPS IH patients had a visual acuity of less than 6/12 equivalent in their better eye, compared to 44% of MPS IH/S and 25% of MPS VI patients. In total, 16% of MPS IH and 25% of MPS IH/S had severe corneal opacification, compared to 38% of MPS VI patients. 16% of MPS IH patients had optic atrophy; 21% of MPS VI patients had mild disc swelling, 29% had markedly swollen discs, and 14% had optic atrophy. One patient with MPS IH, one with MPS IH/S and six with MPS VI had ocular hypertension. One MPS VI patient had glaucoma that required topical therapy. Nine patients with MPS IH had electrodiagnostic evidence of retinopathy, as did one MPS VI patient. Conclusions Ocular complications causing significant reduction in vision are common in MPS. The majority of MPS I and MPS VI patients have corneal opacification, which can lead to difficulties in diagnosis and monitoring of glaucoma, optic disc changes, and retinopathy.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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The ocular features of the mucopolysaccharidoses

Ashworth

Biswas

Wraith

et al. 2005

Eye

127

193

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“…In general, multi‐systemic and progressive signs and symptoms should raise suspicion of a genetic disorder, including a lysosomal storage disorder such as MPS I 8. The benefits of early treatment with haematopoietic stem cell transplantation (HSCT) in patients with severe MPS I include substantial changes in the disease course along with improved cognition 9, 10, 11.…”

Section: Introductionmentioning

confidence: 99%

Easy‐to‐use algorithm would provide faster diagnoses for mucopolysaccharidosis type I and enable patients to receive earlier treatment

Tylki‐Szymańska

Meırleır²,

Rocco

et al. 2018

Acta Paediatrica

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AimThe aim of this study was to develop an algorithm to prompt early clinical suspicion of mucopolysaccharidosis type I (MPS I).MethodsAn international working group was established in 2016 that comprised 11 experts in paediatrics, rare diseases and inherited metabolic diseases. They reviewed real‐world clinical cases, selected key signs or symptoms based on their prevalence and specificity and reached consensus about the algorithm. The algorithm was retrospectively tested.ResultsAn algorithm was developed. In patients under two years of age, kyphosis or gibbus deformity were the key symptoms that raised clinical suspicion of MPS I and in those over two years they were kyphosis or gibbus deformity, or joint stiffness or contractures without inflammation. The algorithm was tested on 35 cases, comprising 16 Hurler, 10 Hurler–Scheie, and nine Scheie patients. Of these 35 cases, 32 (91%) – 16 Hurler, nine Hurler–Scheie and seven Scheie patients – would have been referred earlier if the algorithm had been used.ConclusionThe expert panel developed and tested an algorithm that helps raise clinical suspicion of MPS I and would lead to a more prompt final diagnosis and allow earlier treatment.

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“…However, airway infiltration by GAGs is a major concern in these patients, as it leads to the obstructive sleep apnea syndrome (OSAS) and, consequently, to cor pulmonale. Death occurs early on, often in the second or third decades of life (Wraith 1995;Kakkis and Wynn 2015).…”

Section: Introductionmentioning

confidence: 99%

Correlation Between Flexible Fiberoptic Laryngoscopic and Polysomnographic Findings in Patients with Mucopolysaccharidosis Type VI

et al. 2015

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This study aimed to compare flexible fiberoptic laryngoscopy (FFL) and polysomnography (PSG) findings in patients with mucopolysaccharidosis (MPS) type VI and to describe upper airway anatomical findings and abnormal PSG results in these patients. In this cross-sectional study, all MPS VI patients followed up at the genetic division of a hospital in southern Brazil were included. Overnight PSG was performed, and the results were classified as normal or mildly, moderately, or severely abnormal. FFL was performed between 7 days before and 7 days after PSG. FFL findings were classified as (1) no obstruction, (2) mild obstruction, (3) moderate obstruction, or (4) severe obstruction of the airways, using the highest score obtained in all the regions.Eleven patients with MPS VI were included. FFL detected severe airway obstruction in eight (72.7%) patients, moderate obstruction in two (18.2%), and mild obstruction in one (9.1%). PSG revealed obstructive sleep apnea syndrome (OSAS) in nine (81.8%) patients. Among these, mild OSAS was observed in five (45.5%) patients, moderate OSAS in three (27.2%), and severe OSAS in one (9.1%). Moderate to severe hypertrophy of the nasal turbinates was found in 81.8% of the patients, and 64% had severe infiltration in the supraglottic region. There was no association between FFL and PSG findings (p ¼ 0.454; k ¼ À0.09; 95%CI ¼ À0.34 to 0.17), indicating no agreement between the two methods. In the present study, all patients with MPS showed some degree of airway obstruction. We suggest performing PSG in MPS patients to determine disease severity.

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The mucopolysaccharidoses: a clinical review and guide to management.

Cited by 198 publications

References 11 publications

The ocular features of the mucopolysaccharidoses

The ocular features of the mucopolysaccharidoses

Easy‐to‐use algorithm would provide faster diagnoses for mucopolysaccharidosis type I and enable patients to receive earlier treatment

Correlation Between Flexible Fiberoptic Laryngoscopic and Polysomnographic Findings in Patients with Mucopolysaccharidosis Type VI

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