Search results for "mucopolysaccharidosis"

Audiological Findings in Children With Mucopolysaccharidoses Type I–IV

2017

Abstract Objective The aim of our study is to reflect hearing impairment of 23 children diagnosed with mucopolysaccharidosis (MPS) type I, II, III and IV. Methods Retrospective study of the clinical, audiological and treatment (medical vs surgical) findings of 23 children diagnosed with MPS type I, II, III and IV followed at a Tertiary Referral Hospital between 1997 and 2015. Results Six cases of MPS I, 8 of MPS II, 4 of MPS III and 5 of MPS IV were reviewed. 71.2% of patients had secretory otitis media (SOM) and 54% of patients had some type of hearing loss (HL). The behaviour of hearing loss was variable in each of the subgroups of MPS, finding greater involvement and variability in types…

Systemic therapies for mucopolysaccharidosis: ocular changes following haematopoietic stem cell transplantation or enzyme replacement therapy - a rev…

2010

The management of mucopolysaccharidosis (MPS) is focused on the multi-organ, sometimes life-threatening, clinical manifestations that occur over time. In the past, the limited, symptom-based treatment options led physicians to adopt a palliative approach towards individual disease-associated complications. The availability of systemic treatments such as haematopoietic stem cell transplantation (HSCT) and enzyme replacement therapy (ERT) has created a better prognosis for MPS patients, particularly when initiated early in life. As part of an integrated management approach, these therapies could be valuable in managing the ocular features that are present in many children with MPS. HSCT has b…

219 Incidence Testing of Hunter Syndrome in A Population at Risk - First Results of A Binational Screening Programme

2012

Background Hunter syndrome (Mucopolysaccharidosis type II; X-linked inheritance; prevalence rate in Europe approximately 1:77000 male newborns) is a rare, progressive, multisystemic disease, caused by deficiency of the lysosomal enzyme Iduronate-2-sulfatase. Due to the very heterogeneous phenotype Hunter syndrome is often not diagnosed before pre-school age. This is unfortunate, because patients would significantly benefit from the earliest possible start of treatment containing enzyme replacement therapy. Early screening methods are possible, but due to the rarity of this disease they are too expensive to be performed in all newborns. An at-risk patient population screening provides opport…

Characteristics of patients with mucopolysaccharidosis type II who have received a bone marrow transplant: Data from the Hunter Outcome Survey

2019

Mucopolysaccharidosis type II (MPS II Hunter syndrome) is a rare, life-limiting, X-linked lysosomal storage disease. The Hunter Outcome Survey (HOS) is a Shire-sponsored, global, observational registry initiated in 2005 that collects real-world data on the natural history of MPS II and long-term treatment with enzyme replacement therapy (ERT) with idursulfase. Patients receiving other forms of pharmacological ERT are excluded from HOS but individuals who have received a bone marrow transplant (BMT) may be enrolled. This analysis examined the characteristics of 36 male patients in HOS from Europe and North America who had received a BMT (March 2018 data). In total, 22 patients (61.1%) were E…

A multinational, multidisciplinary consensus for the diagnosis and management of spinal cord compression among patients with mucopolysaccharidosis VI.

2012

Cervical cord compression is a sequela of mucopolysaccharidosis VI, a rare lysosomal storage disorder, and has devastating consequences. An international panel of orthopedic surgeons, neurosurgeons, anesthesiologists, neuroradiologists, metabolic pediatricians, and geneticists pooled their clinical expertise to codify recommendations for diagnosing, monitoring, and managing cervical cord compression; for surgical intervention criteria; and for best airway management practices during imaging or anesthesia. The recommendations offer ideal best practices but also attempt to recognize the worldwide spectrum of resource availability. Functional assessments and clinical neurological examinations …

75 The hunter outcome survey (HOS): A registry of mucopolysaccharidosis II patients

2007

29 Clinical benefit of enzyme replacement therapy (ERT) in mucopolysaccharidosis II (MPS II, Hunter syndrome)

2007

Musculoskeletal manifestations and orthopaedic problems in patients with mucopolysaccharidosis - an overview

2007

Orthopedic manifestations in patients with mucopolysaccharidosis type II (Hunter syndrome) enrolled in the Hunter Outcome Survey.

2010

Mucopolysaccharidosis type II (MPS II or Hunter syndrome) is a rare, inherited disorder caused by deficiency of the lysosomal enzyme iduronate-2-sulfatase. As a result of this deficiency, glycosaminoglycans accumulate in lysosomes in many tissues, leading to progressive multisystemic disease. The cardiopulmonary and neurological problems associated with MPS II have received considerable attention. Orthopedic manifestations are common but not as well characterized. This study aimed to characterize the prevalence and severity of orthopedic manifestations of MPS II and to determine the relationship of these signs and symptoms with cardiovascular, pulmonary and central nervous system involvemen…

Recurrent stereotyped TIAs: atypical Bow Hunter’s syndrome due to compression of non-dominant vertebral artery terminating in PICA

2019

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