The presenting features of mucopolysaccharidosis type IH (Hurler syndrome)

Cleary, M. A.; Je, Wraith

doi:10.1111/j.1651-2227.1995.tb13640.x

Cited by 102 publications

(70 citation statements)

References 2 publications

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“…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. 16 Electroretinography (ERG) usually demonstrates a reduction in dark-adapted b-wave in the early stages.…”

Section: Introductionmentioning

confidence: 99%

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%

The ocular features of the mucopolysaccharidoses

Ashworth

Biswas

Wraith

et al. 2005

Eye

127

193

View full text Add to dashboard Cite

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“…1 The resulting accumulation of GAG throughout the body causes significant somatic, central nervous system, and musculoskeletal system impairments. [1][2][3][4][5][6][7][8] Little is known about the gross motor abilities of children with Hurler syndrome. It has been reported that children with Hurler syndrome reach their maximal functional abilities by 2 to 4 years of age, followed by a gradual regression in abilities.…”

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confidence: 99%

Gross motor abilities in children with Hurler syndrome

Dusing

Thorpe

Rosenberg³

et al. 2006

Develop Med Child Neuro

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Hurler syndrome is the most severe form of mucopolysaccharidosis type I. There is a paucity of literature reporting the gross motor abilities of children with untreated Hurler syndrome. The purpose of this case series is to describe the gross motor abilities of one male and three female children (mean age 11.4mo [SD 3.1]; range 9.5–16mo) diagnosed with Hurler syndrome. The children were assessed using the Peabody Developmental Motor Scales, 2nd edition. Gross motor delays were present in all four children at the time of assessment, and were most evident in locomotor abilities for three of the children. All four children had range of motion limitations at multiple joints. This case series provides evidence for early gross motor delays in this population, as well as evidence for specific gross motor abilities of children with untreated Hurler syndrome. It is recommended that children diagnosed with Hurler syndrome be referred to physical therapy services upon diagnosis and that physical therapists be part of the interdisciplinary team involved in the care of children with Hurler syndrome.

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“…Clinical manifestations include hepatosplenomegaly, cardiac disease with coronary insufficiency, airway compromise, vision and hearing impairment, severe skeletal abnormalities, progressive mental retardation, hydrocephalus and premature death with a median life span of approximately 5 years. [1][2][3][4][5][6] Allogeneic hematopoietic cell transplantation (HCT) is the only proven therapy that can prolong survival and either reverse or stabilize disease manifestations. [7][8][9][10][11][12][13][14] HCT is effective due to repopulation of recipient tissues by metabolically competent donor cells, including tissue macrophages 14 and non-neuronal cells in the central nervous system.…”

mentioning

confidence: 99%