The authors report the case of a 37 year-old male who presented with type I Hurler-Scheie (H-S) mucopolysaccharidosis revealed by ocular complications including bilateral corneal opacification and glaucoma. These complications are identical to those seen in Scheie's mucopolysaccharidosis. The patient underwent a trabeculectomy and a penetrating keratoplasty in both eyes. The corneal storage material was shown on the histological and ultrastructural examination of the buttons. These ocular complications result from excessive tissular storage of acid mucopolysaccharides due to an enzymatic alpha-L-iduronidase deficiency which was proved in our patient. H-S mucopolysaccharidosis is also characterized by dysmorphia and altered intellectual functions like in Hurler's disease in which the prognosis is however. The characteristics of the disease are discussed as well as the different therapeutical strategies which rely on leucocyte injections, skin fibroblast or bone marrow transplantation.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Alterations in Hurler-Scheie Syndrome Revealed by Mass Spectrometry-Based Proteomics and Phosphoproteomics Analysis.
OMICS
November 2024
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.
Hurler-Scheie syndrome (MPS IH/S), also known as mucopolysaccharidosis type I-H/S (MPS IH/S), is a lysosomal storage disorder caused by deficiency of the enzyme alpha-L-iduronidase (IDUA) leading to the accumulation of glycosaminoglycans (GAGs) in various tissues, resulting in a wide range of symptoms affecting different organ systems. Postgenomic omics technologies offer the promise to understand the changes in proteome, phosphoproteome, and phosphorylation-based signaling in MPS IH/S. Accordingly, we report here a large dataset and the proteomic and phosphoproteomic analyses of fibroblasts derived from patients with MPS IH/S ( = 8) and healthy individuals ( = 8).
View Article and Find Full Text PDFMucopolysaccharidosis type I Hurler-Scheie syndrome: a case report.
Ann Med Surg (Lond)
January 2024
Tulsipur Bhimsen Metro Hospital, Tulsipur, Dang, Gujarat.
Introduction And Importance: Hurler syndrome, also known as mucopolysaccharidoses type I, is a rare autosomal recessive lysosomal storage disorder with decreased activities of α-L iduronidase, resulting in the accumulation of glycosaminoglycans (GAGs) within various tissues.
Case Presentation: The authors presented a case report of a 15-year-old male who presented with a lower respiratory tract infection and was admitted to the pediatrics department with a history of facial dysmorphism, skeletal abnormalities, and corneal clouding and below-normal cognitive function which is consistent with the Hurler-Scheie syndrome. Skeletal abnormalities include inverted j-shaped sella turcica, bullet-shaped phalanges, thoracolumbar kyphosis, and acetabular dysplasia.
Vascular involvement in the genetic disorder mucopolysaccharidosis type I (MPS I) has features of atherosclerotic disease near branch points of arterial vasculature, such as intimal thickening with disruption of the internal elastic lamina, and proliferation of macrophages and myofibroblasts. Inflammatory pathways are implicated in the pathogenesis of vascular disease in MPS I animal models, evidenced by cytokines like CD18 and TGF-β within arterial plaques. The angiotensin II-mediated inflammatory pathway is well studied in human atherosclerotic coronary artery disease.
View Article and Find Full Text PDFNatural history of cardiac findings in mucopolysaccharidosis type I: report from an international registry.
Cardiol Young
February 2024
Department of Medical Genetics and the British Columbia Children's Hospital Research Institute, University of British Columbia, Vancouver, BC, Canada.
Mucopolysaccharidosis type I is an inborn error of glycosaminoglycan catabolism with phenotypes ranging from severe (Hurler syndrome) to attenuated (Hurler-Scheie and Scheie syndromes). Cardiovascular involvement is common and contributes significantly to morbidity and mortality. We conducted a retrospective analysis of the prevalence and natural history of cardiac abnormalities in treatment-naïve individuals enrolled in the international Mucopolysaccharidosis Type I Registry.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!