Hunter syndrome presenting as macrocephaly and hydrocephalus.

Yatziv, S; Epstein, C. J.

doi:10.1136/jmg.14.6.445

Cited by 17 publications

(6 citation statements)

References 7 publications

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“…For patients with communicating hydrocephalus or evidence of progressive ventricular enlargement, a ventriculoperitoneal shunt can be placed to relieve intracranial pressure [ 77 , 78 ]. Motor function has been reported to improve after shunt placement [ 79 ].…”

Section: Non-disease-specific Approaches To Managing Mps IImentioning

confidence: 99%

Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease

Scarpa

Almássy

Beck

et al. 2011

Orphanet J Rare Dis

205

220

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Mucopolysaccharidosis type II (MPS II) is a rare, life-limiting, X-linked recessive disease characterised by deficiency of the lysosomal enzyme iduronate-2-sulfatase. Consequent accumulation of glycosaminoglycans leads to pathological changes in multiple body systems. Age at onset, signs and symptoms, and disease progression are heterogeneous, and patients may present with many different manifestations to a wide range of specialists. Expertise in diagnosing and managing MPS II varies widely between countries, and substantial delays between disease onset and diagnosis can occur. In recent years, disease-specific treatments such as enzyme replacement therapy and stem cell transplantation have helped to address the underlying enzyme deficiency in patients with MPS II. However, the multisystem nature of this disorder and the irreversibility of some manifestations mean that most patients require substantial medical support from many different specialists, even if they are receiving treatment. This article presents an overview of how to recognise, diagnose, and care for patients with MPS II. Particular focus is given to the multidisciplinary nature of patient management, which requires input from paediatricians, specialist nurses, otorhinolaryngologists, orthopaedic surgeons, ophthalmologists, cardiologists, pneumologists, anaesthesiologists, neurologists, physiotherapists, occupational therapists, speech therapists, psychologists, social workers, homecare companies and patient societies.Take-home messageExpertise in recognising and treating patients with MPS II varies widely between countries. This article presents pan-European recommendations for the diagnosis and management of this life-limiting disease.

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Section: Non-disease-specific Approaches To Managing Mps IImentioning

confidence: 99%

Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease

Scarpa

Almássy

Beck

et al. 2011

Orphanet J Rare Dis

205

220

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“…Late-stage disease is characterized by a neurodegenerative state often associated with seizures and lack of mobility [ 41 ]. Communicating hydrocephalus with increased intracranial pressure may contribute to the behavioral problems, as well as seizures [ 33 , 38 ].…”

Section: Severe Hunter Syndromementioning

confidence: 99%

The role of enzyme replacement therapy in severe Hunter syndrome—an expert panel consensus

et al. 2011

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Intravenous enzyme replacement therapy (ERT) with idursulfase for Hunter syndrome has not been demonstrated to and is not predicted to cross the blood–brain barrier. Nearly all published experience with ERT with idursulfase has therefore been in patients without cognitive impairment (attenuated phenotype). Little formal guidance is available on the issues surrounding ERT in cognitively impaired patients with the severe phenotype. An expert panel was therefore convened to provide guidance on these issues. The clinical experience of the panel with 66 patients suggests that somatic improvements (e.g., reduction in liver volume, increased mobility, and reduction in frequency of respiratory infections) may occur in most severe patients. Cognitive benefits have not been seen. It was agreed that, in general, severe patients are candidates for at least a 6–12-month trial of ERT, excluding patients who are severely neurologically impaired, those in a vegetative state, or those who have a condition that may lead to near-term death. It is imperative that the treating physician discuss the goals of treatment, methods of assessment of response, and criteria for discontinuation of treatment with the family before ERT is initiated. Conclusion: The decision to initiate ERT in severe Hunter syndrome should be made by the physician and parents and must be based on realistic expectations of benefits and risks, with the understanding that ERT may be withdrawn in the absence of demonstrable benefits.

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“…It is possible that episodes of raised intracranial pressure may be the mechanism that lead to some of the abnormal behaviour in patients with mucopolysaccharidoses. Although ventriculomegaly has been assumed to be a secondary phenomenon due to cerebral atrophy in MPSIII and therefore shunting thought not to be useful in management [4], we were encouraged to perform CSF shunting in our patients after a positive outcome in another centre (the late Dr B Turner, Sydney, personal communication) Favourable outcomes using the procedure in patients with Hurler and Hunter [1,8] syndromes have also been reported. Thioridazine in large doses combined with anti-Parkinsonian agents provides some control over behaviour in most patients with MPSIII but it does not always provide sucient relief from severe problems or screaming episodes [3,5].…”

Section: Discussionmentioning

confidence: 99%

Cerebrospinal fluid shunts in the management of behavioural problems in Sanfilippo syndrome (MPS III)

Robertson

Klug

Rogers

1998

European Journal of Pediatrics

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Hunter syndrome presenting as macrocephaly and hydrocephalus.

Cited by 17 publications

References 7 publications

Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease

Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease

The role of enzyme replacement therapy in severe Hunter syndrome—an expert panel consensus

Cerebrospinal fluid shunts in the management of behavioural problems in Sanfilippo syndrome (MPS III)

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