Brain magnetic resonance imaging findings in patients with mucopolysaccharidosis VI

Azevedo, Ana Cecília; Artigalás, Osvaldo Alfonso Pinto; Vedolin, Leonardo; Komlós, Márcia; Pires, Adriana; Giugliani, Roberto; Schwartz, Ida Vanessa Döederlein

doi:10.1007/s10545-012-9559-x

Cited by 22 publications

(25 citation statements)

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“…Patients with MPS I, II, III, and VII may also exhibit learning difficulties and neurological decline [1]. Although MPS IV and VI are generally considered not to affect neurocognitive development, some patients may have an IQ below the normal range [3,4]. It remains to be elucidated if this is a direct result of the disease or indirectly results from reduced school attendance or [2].…”

Section: Introductionmentioning

confidence: 99%

Unique medical issues in adult patients with mucopolysaccharidoses

Mitchell

Berger

Borgo³

et al. 2016

European Journal of Internal Medicine

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The mucopolysaccharidoses are a group of inherited metabolic diseases caused by deficiencies in enzymes involved in the sequential degradation of glycosaminoglycans (GAGs) leading to substrate accumulation in various tissues and organs. GAG accumulation can cause growth retardation and progressive damage to respiratory, cardiovascular, musculoskeletal, nervous, gastrointestinal, auditory, and visual systems. In the past, few people with severe phenotypic mucopolysaccharidosis (MPS) reached adulthood. However, better methods for diagnosis, multi-disciplinary care, and new therapies have extended lifespan, leading to an increasing number of patients surviving beyond childhood. The growing number of adult MPS patients poses significant challenges for clinicians who may not be familiar with the clinical manifestations of MPS. In addition, as new interventions have changed the natural history of these disorders, it is difficult to anticipate both the impact on life expectancy and other complications that may occur as these patients age. Because the MPS disorders are multi-organ diseases, their management requires a coordinated multi-disciplinary approach. Here we discuss the unique pattern of medical issues and multi-organ involvement in adult patients with MPS and identify the challenges that are associated with management of MPS. This review is based on information from an expert investigator meeting with MPS specialists held October 2-4, 2014 in Dublin, Ireland, as well as on current literature searches focusing on MPS and adults.

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Section: Introductionmentioning

confidence: 99%

Unique medical issues in adult patients with mucopolysaccharidoses

Mitchell

Berger

Borgo³

et al. 2016

European Journal of Internal Medicine

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“…Nevertheless, in a recent study of 25 MPS VI patients, approximately 30 percent had IQ scores below the normal range (69 or lower) (20). As brain abnormalities on MRI did not correlate with IQ scores, the investigators suggested that cultural deprivation and physical limitations associated with the disease (fatigue, and visual or hearing deficits) may have an impact on the outcome of IQ testing in these patients (20).…”

Section: Clinical Features Of Mps VImentioning

confidence: 99%

Section: Clinical Features Of Mps VImentioning

confidence: 99%

“…Although several studies have shown abnormalities in the central nervous system of patients with MPS VI, including abnormalities in the ventricular system, white matter and perivascular spaces, communicating hydrocephalus, and cerebral atrophy (18)(19)(20), MPS VI is generally considered not to affect intellectual development. Nevertheless, in a recent study of 25 MPS VI patients, approximately 30 percent had IQ scores below the normal range (69 or lower) (20). As brain abnormalities on MRI did not correlate with IQ scores, the investigators suggested that cultural deprivation and physical limitations associated with the disease (fatigue, and visual or hearing deficits) may have an impact on the outcome of IQ testing in these patients (20).…”

Section: Clinical Features Of Mps VImentioning

confidence: 99%

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Mucopolysaccharidosis VI pathophysiology diagnosis and treatment

Harmatz¹

2017

Front Biosci

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Mucopolysaccharidosis VI (MPS VI), or Maroteaux-Lamy syndrome, is an autosomal recessive lysosomal storage disorder caused by deficient activity of the enzyme arylsulfatase B (ASB). Progressive accumulation of glycosaminoglycans (GAGs) in organs and tissues leads to the development of multisystem clinical manifestations. The presentation of MPS VI is genotypically and phenotypically diverse, with a large number of potential disease-causing mutations and a phenotypic spectrum ranging from very slowly to very rapidly progressing disease. Diagnosis of MPS VI relies on presence of clinical features, increased GAG levels in urine or low ASB activity in dried blood spots, and measurement of enzyme activity levels in leukocytes or fibroblasts. The management of MPS VI involves enzyme replacement therapy and medical and surgical treatment of disease manifestations. Liquid chromatography/tandem mass spectrometry of GAG-derived disaccharides in blood or urine is emerging as a valuable method in the diagnosis, prognosis and assessment of therapeutic efficacy in MPS VI.

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“…MPS VI was evaluated because it is among the rarest subtype worldwide yet is frequent in Brazil. The study was performed in Porto Alegre in 2007, and an estimated 65 patients were diagnosed with MPS VI in Brazil; of these, 38.5% showed the most common clinical characteristics of the disease . MPS VI shows autosomal recessive inheritance in the short arm of chromosome 5 (5q12‐13) and causes the absence of the lysosomal enzyme N‐acetylgalactosamine‐sulfatase, which functions in glycosaminoglycan degradation, namely dermatan sulfate (DS) and chondroitin sulfate (CS) …”

Section: Introductionmentioning

confidence: 99%