Hurler holes in Hunter syndrome [PDF]
BMJ Case Reports, 2021 A 16-year-old male presented to our hospital with complaints of mild mental retardation, umbilical and bilateral inguinal hernias, distended abdomen, profound bilateral hearing loss and recent onset seizures. On physical examination, he had a short stature, thick rough skin, depressed nasal bridge,
Rajaram Sharma +3 more
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The nature and impact of neurobehavioral symptoms in neuronopathic Hunter syndrome [PDF]
Molecular Genetics and Metabolism Reports, 2020 In neuronopathic Hunter syndrome, neurobehavioral symptoms are known to be serious but have been incompletely described. While families face significant stress stemming from this complex and far-reaching array of symptoms, neither caregiver burden nor ...
J.B. Eisengart +4 more
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A case of hunter syndrome and Alder-Reilly anomaly
Journal of Applied Hematology, 2017 A 2-year-old boy presented with delayed speech, hydrocephalus, skeletal deformities, and right-sided hydrocele. On investigation, the peripheral smear revealed Alder–Reilly anomaly in the neutrophils suggesting mucopolysaccharidosis (MPS).
Nour AlMozain, Nasir A Bakshi
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The Impact of Hydrotherapy on Health‐Related Quality of Life, Pain and Mobility in Individuals With Mucopolysaccharidosis Type II (Hunter Syndrome): A Pilot Feasibility Study [PDF]
JIMD ReportsEnzyme Replacement Therapy (ERT) is the clinical standard for Mucopolysaccharidosis II (MPSII), yet its limited penetration into poorly vascularised tissues such as bone, cartilage and heart valves leaves participants with significant musculoskeletal ...
Andrew Oldham +6 more
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Transabdominal preperitoneal repair for an adolescent patient with Hunter syndrome: a case report [PDF]
Surgical Case Reports, 2019 Background Hunter syndrome is an X-linked disorder caused by a deficit of the lysosomal enzyme iduronate-2-sulfatase and is associated with many disorders. Patients with Hunter syndrome often develop inguinal hernias in early childhood and undergo Potts’
Yoichiro Tada +11 more
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Immune Modulation for Enzyme Replacement Therapy in A Female Patient With Hunter Syndrome [PDF]
Frontiers in Immunology, 2020 A 3.5 year old Hispanic female presented with signs and symptoms concerning for MPS II (Hunter Syndrome). The diagnosis of MPS II was confirmed by enzyme and molecular testing.
Daniel C. Julien +6 more
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Treatment outcomes maintained in Hunter syndrome patients: a case series on switching from idursulfase to idursulfase beta in Belarus [PDF]
Therapeutic Advances in Rare DiseaseHunter syndrome (Mucopolysaccharidosis type II, MPS II) is a rare X-linked lysosomal storage disorder caused by iduronate-2-sulfatase deficiency, leading to glycosaminoglycan accumulation.
Anna Kulpanovich
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Hunter syndrome with persistent thrombocytopenia [PDF]
BMJ Case Reports, 2019 A case of Hunter syndrome, 6½-year-old boy presented with persistent thrombocytopenia and bleeding diathesis. However, cytopenia is not a usual presentation in patients with mucopolysaccharidosis II. After ruling out other causes of severe thrombocytopenia, a clinical possibility of chronic Epstein-Barr virus (EBV) infection was considered.
Inusha Panigrahi +3 more
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The mutational spectrum of hunter syndrome reveals correlation between biochemical and clinical profiles in Tunisian patients [PDF]
BMC Medical Genetics, 2020 Background Mucopolysaccharidosis type II (MPS II) or Hunter syndrome is an X-linked recessive lysosomal storage disorder resulting from deficient activity of iduronate 2-sulfatase (IDS) and the progressive lysosomal accumulation of sulfated ...
L Chkioua +8 more
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