Un point d’appel ophtalmologique à l’origine du diagnostic de deux cas de mucopolysaccharidose

Lala-Gitteau, E.; Majzoub, S.; Labarthe, François; Blesson, Sophie; Pisella, Pierre‐Jean

doi:10.1016/s0181-5512(07)89568-4

Cited by 3 publications

(1 citation statement)

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“…Otological (otitis media) and respiratory (airway obstruction) problems can also be present. Other manifestations include impaired vision (corneal clouding and photophobia) [4] and cardiovascular involvement (myocardial hypertrophy, systolic dysfunction and valve dysfunction) [5–7]. …”

Section: Introductionmentioning

confidence: 99%

Imaging findings of mucopolysaccharidoses: a pictorial review

et al. 2013

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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.

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Section: Introductionmentioning

confidence: 99%

Imaging findings of mucopolysaccharidoses: a pictorial review

et al. 2013

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The importance of skeletal x-ray screening for dysostosis multiplex in the early diagnosis of mucopolysaccharidosis

Bilgin,

Ayaz

2024

Clinical Imaging

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Assessment and diagnosis of suspected glaucoma in patients with mucopolysaccharidosis

Ashworth

Flaherty

Pitz

et al. 2015

Acta Ophthalmologica

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ABSTRACT.Purpose: The mucopolysaccharidoses (MPS) are a group of rare lysosomal storage disorders, characterized by the accumulation of glycosaminoglycans within multiple organ systems including the eye. This study aimed to determine the prevalence of glaucoma in patients with MPS, as well as the characteristics, diagnosis and management of patients with MPS and glaucoma. Methods: A multicentre retrospective case-note review was carried out by ophthalmologists from four tertiary referral centres to identify patients with MPS who had been treated for glaucoma. Clinical ophthalmological data were collected using standardized data collection forms. Results: Fourteen patients were identified (27 eyes) of 294 patients with MPS. The prevalence of glaucoma ranged from 2.1% to 12.5%. The median age at diagnosis of glaucoma was 8 years. Diagnostic evaluation of glaucoma was incomplete in many patients: intraocular pressure was documented in all eyes, but optic disc appearance was only assessed in 67%, central corneal thickness in 26%, visual fields in 19% and iridocorneal angle in 15%. Conclusions: Patients with MPS need regular assessment for possible glaucoma including during childhood. Multiple factors contribute to the challenges of assessment, diagnosis and monitoring of glaucoma in these patients.

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Un point d’appel ophtalmologique à l’origine du diagnostic de deux cas de mucopolysaccharidose

Cited by 3 publications

References 24 publications

Imaging findings of mucopolysaccharidoses: a pictorial review

Imaging findings of mucopolysaccharidoses: a pictorial review

The importance of skeletal x-ray screening for dysostosis multiplex in the early diagnosis of mucopolysaccharidosis

Assessment and diagnosis of suspected glaucoma in patients with mucopolysaccharidosis

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