2008
DOI: 10.1007/s10545-008-0878-x
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Neurological findings in Hunter disease: Pathology and possible therapeutic effects reviewed

Abstract: Hunter disease (mucopolysaccharidosis type II, MPS II) is an X-linked lysosomal storage disease caused by deficiency of iduronate-2-sulfatase. Accumulation of chondroitin sulfate B and heparan sulfate in various tissues is the biochemical consequence of MPS II. Children with Hunter disease are normal at birth, and symptoms occur between 2 and 10 years of age. Typical symptoms include coarse facies with enlarged tongue and prominent forehead as well as a short, stocky built stature with short neck. The cardiova… Show more

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Cited by 77 publications
(60 citation statements)
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“…The most common findings consistent with CNS involvement are mental retardation, hydrocephalus, progressive spasticity, seizures, cerebral infarction, ataxia, cervical cord compression and myelopathy, sleep apnea, optic atrophy, hearing impairment, and hyperactivity with aggressive behavior. [4][5][6] Carpal and tarsal tunnel syndromes represent the most common features of peripheral nervous system impairment. 6 The introduction of ERT along with potentially new therapeutic regimens aimed at the neurologic manifestations of MPS underlined the great need to identify reliable markers for predicting the outcome and monitoring CNS progression.…”
mentioning
confidence: 99%
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“…The most common findings consistent with CNS involvement are mental retardation, hydrocephalus, progressive spasticity, seizures, cerebral infarction, ataxia, cervical cord compression and myelopathy, sleep apnea, optic atrophy, hearing impairment, and hyperactivity with aggressive behavior. [4][5][6] Carpal and tarsal tunnel syndromes represent the most common features of peripheral nervous system impairment. 6 The introduction of ERT along with potentially new therapeutic regimens aimed at the neurologic manifestations of MPS underlined the great need to identify reliable markers for predicting the outcome and monitoring CNS progression.…”
mentioning
confidence: 99%
“…[4][5][6] Carpal and tarsal tunnel syndromes represent the most common features of peripheral nervous system impairment. 6 The introduction of ERT along with potentially new therapeutic regimens aimed at the neurologic manifestations of MPS underlined the great need to identify reliable markers for predicting the outcome and monitoring CNS progression. Thus, neuroimaging studies are of great importance because CNS involvement has to be diagnosed early and carefully followed up to prevent serious complications.…”
mentioning
confidence: 99%
“…1 However, the true impact on the central nervous system and skeletal and skull abnormalities is still debated. 1,4 Several MR imaging findings have been described so far in patients with Hunter syndrome. [5][6][7][8][9][10][11] In a recent systematic study of brain and spine MR imaging features of patients with Hunter syndrome, 12 our attention was drawn by a peculiar herniation of meninx and brain parenchyma, consistent with a meningoencephalocele, in a couple of patients (Fig 1).…”
mentioning
confidence: 99%
“…Considerando-se apenas as manifestações neurológicas, o fenótipo leve da MPS tipo II assemelha-se ao fenótipo Scheie da MPS I. Da mesma forma, os pacientes graves compartilham alterações cognitivas com os pacientes com o fenótipo Hurler da MPS I (Kliegman and Muenzer 2005;Sawaf et al 2008).…”
Section: Mps II Ou Síndrome De Hunterunclassified
“…Hidrocefalia comunicante pode surgir, mesmo nos casos com inteligência próxima ao normal. Crises epilépticas também podem fazer parte do quadro clínico (Sawaf et al 2008). …”
Section: Mps II Ou Síndrome De Hunterunclassified