Abstract:
:The mucopolysaccharidoses are a heterogeneous group of inherited lysosomal storage disorders, characterized by the accumulation of undegraded glycosaminoglycans in various organs, leading to tissue damage. Mucopolysaccharidoses include eight individual disorders (IS [Scheie syndrome], IH [Hurler syndrome], II, III, IV, VI, VII and IX). They have autosomal-recessive transmission with the exception of mucopolysaccharidosis II, which is X-linked. Each individual disorder has a wide spectrum of phenotypic variation, depending on the specific mutation, from very mild to very severe. The skeletal and central nervous systems are particularly affected. The typical clinical presentation includes organomegaly, dysostosis multiplex with short trunk dwarfism, mental retardation and developmental delay. In this article, we review the neuroimaging manifestations of the different types of mucopolysaccharidoses including the dysostosis multiplex of the skull and spine as well as the various central nervous system complications. These include white matter injury, enlargement of the perivascular spaces, hydrocephalus, brain atrophy, characteristic enlargement of the subarachnoid spaces as well as compressive myelopathy. The correlation between several of the neuroimaging features and disease severity remains controversial, without well-established imaging biomarkers at this time. Imaging has, however, a crucial role in monitoring disease progression, in particular craniocervical junction stenosis, cord compression and hydrocephalus, because this allows for timely intervention before permanent damage occurs.
journal_name
Pediatr Radioljournal_title
Pediatric radiologyauthors
Nicolas-Jilwan M,AlSayed Mdoi
10.1007/s00247-018-4139-3subject
Has Abstractpub_date
2018-09-01 00:00:00pages
1503-1520issue
10eissn
0301-0449issn
1432-1998pii
10.1007/s00247-018-4139-3journal_volume
48pub_type
杂志文章,评审abstract::In the context of health care, risk assessment is the identification, evaluation and estimation of risk related to a particular clinical situation or intervention compared to accepted medical practice standards. The goal of risk assessment is to determine an acceptable level of risk for a given clinical treatment or i...
journal_title:Pediatric radiology
pub_type: 杂志文章,评审
doi:10.1007/s00247-017-4023-6
更新日期:2018-01-01 00:00:00
abstract::We report a case of multifocal metachronous giant cell tumor (GCT) that involved the fibula, tibia, and sacrum of a 15-year-old boy. Multifocal GCT of bone presenting in children is an exceedingly rare phenomenon; however, there is evidence that multifocal GCT presents, on average, at a younger age than solitary GCT. ...
journal_title:Pediatric radiology
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doi:10.1007/s00247-004-1346-x
更新日期:2005-04-01 00:00:00
abstract::Ultrasound scans of 18 children with primary hepatic tumours were reviewed to assess the accuracy of ultrasound in determining hepatic origin, extent, resectability, and histology. Using basic landmarks, ultrasound correctly predicted extent and resectability in 72% of patients. Accuracy would be increased by more det...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/BF02388402
更新日期:1988-01-01 00:00:00
abstract:BACKGROUND:Chronic lung disease (CLD) in premature infants shows a variable clinical course with different radiological manifestations. OBJECTIVE:To evaluate the correlation between parameters of trans-membrane permeability [albumin/secretory component (SC)] and oxidative stress [malondialdehyde (MDA)/SC] in tracheal ...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/s002470100444
更新日期:2001-05-01 00:00:00
abstract:BACKGROUND:Pediatric radiology fellowship web pages convey practical information and provide an opportunity to impress upon visitors the mission and principles that are core to the program. OBJECTIVE:The goal of the study was to assess pediatric radiology fellowship program websites and identify potential areas for im...
journal_title:Pediatric radiology
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doi:10.1007/s00247-019-04381-w
更新日期:2019-05-01 00:00:00
abstract::Treatment-related neurotoxicity is a potentially life-threatening clinical condition that can represent a diagnostic challenge. Differentiating diagnoses between therapy-associated brain injury and recurrent disease can be difficult, and the immediate recognition of neurotoxicity is crucial to providing correct therap...
journal_title:Pediatric radiology
pub_type: 杂志文章,评审
doi:10.1007/s00247-016-3750-4
更新日期:2017-05-01 00:00:00
abstract:BACKGROUND:We have previously shown that urinary bladder volume index (BVI = length x width x depth of bladder) and bladder volume wall thickness index (BVWI = BVI at full bladder/average bladder wall thickness) are useful indicators of bladder dysfunction in children with enuresis and urinary tract infection. These in...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/s00247-006-0376-y
更新日期:2007-02-01 00:00:00
abstract::The risks associated with total splenectomy, including overwhelming postsplenectomy infection, have led to an interest in the use of partial splenectomy as an alternative surgical option for children with congenital hemolytic anemias and hypersplenism. Partial splenectomy, a procedure designed to remove enough spleen ...
journal_title:Pediatric radiology
pub_type: 杂志文章,评审
doi:10.1007/s00247-009-1519-8
更新日期:2010-07-01 00:00:00
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journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/BF02013178
更新日期:1990-01-01 00:00:00
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journal_title:Pediatric radiology
pub_type: 杂志文章
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更新日期:2000-04-01 00:00:00
abstract::Hydrostatic reduction of an ileocolic intussusception has not been reported when barium dissects around the intussusceptum as opposed to pushing it retrograde. Consequently, this development is considered an indication to discontinue hydrostatic reduction. We have studied a baby in whom draining the colon caused a see...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/BF02387971
更新日期:1986-01-01 00:00:00
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journal_title:Pediatric radiology
pub_type: 杂志文章,评审
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更新日期:2009-08-01 00:00:00
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journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/s00247-013-2627-z
更新日期:2013-08-01 00:00:00
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journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/BF02012410
更新日期:1993-01-01 00:00:00
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journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/BF00973363
更新日期:1975-01-24 00:00:00
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journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/s00247-020-04771-5
更新日期:2020-11-01 00:00:00
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journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/BF02015352
更新日期:1992-01-01 00:00:00
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journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/s00247-015-3426-5
更新日期:2015-12-01 00:00:00
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journal_title:Pediatric radiology
pub_type: 杂志文章,评审
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更新日期:2019-10-01 00:00:00
abstract::High-resolution CT (HRCT) is the most sensitive radiographic method to image small airways disease. We discuss the HRCT features of follicular bronchiolitis in a 5-year-old boy and correlate them with the histopathological findings. The changes described include centrilobular nodules, bronchiectasis and bronchiolectas...
journal_title:Pediatric radiology
pub_type: 杂志文章,评审
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更新日期:1997-11-01 00:00:00
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journal_title:Pediatric radiology
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更新日期:2010-07-01 00:00:00
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journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/BF02015620
更新日期:1991-01-01 00:00:00
abstract::Ectopic thyroid gland is a well-known developmental anomaly. We present a child with a unique anatomical variant of this anomaly, namely double ectopic thyroid. The purpose of this report is to demonstrate the scintigraphic findings and to emphasize the importance of performing a thyroid scan in every case of thyroid ...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/s00247-002-0787-3
更新日期:2002-12-01 00:00:00
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journal_title:Pediatric radiology
pub_type: 杂志文章
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更新日期:2002-05-01 00:00:00
abstract::We report a healthy, asymptomatic 15-year-old girl with a meandering right pulmonary vein draining to the left atrium. A meandering pulmonary vein may or may not be associated with the scimitar syndrome. The differential diagnosis with the scimitar syndrome and other forms of scimitar variants is discussed. ...
journal_title:Pediatric radiology
pub_type: 杂志文章,评审
doi:10.1007/s002470050651
更新日期:1999-08-01 00:00:00
abstract:OBJECTIVE:The purpose of this prospective study was to measure in vivo blood oxygen saturation (%O2) by MRI in children with congenital heart disease (CHD) using population-based values for T2O (T2 signal decay of fully oxygenated blood) and K (a parameter representing the deoxyhemoglobin effect) and compare the %O2 wi...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/s00247-004-1305-6
更新日期:2005-02-01 00:00:00
abstract:BACKGROUND:MRI is frequently utilized to evaluate patients for osteomyelitis. The findings of intramedullary and extramedullary fat globules as well as extramedullary fat-fluid levels can help improve the specificity of MRI for this diagnosis. OBJECTIVE:To correlate these MRI findings with the clinical characteristics...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/s00247-011-2073-8
更新日期:2011-10-01 00:00:00
abstract:BACKGROUND:Medical examination is the main source of artificial radiation exposure. Because children present an increased sensitivity to ionising radiation, radiology practices at a national level in paediatrics should be monitored. OBJECTIVE:This study describes the ionising radiation exposure from diagnostic medical...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/s00247-014-3065-2
更新日期:2014-12-01 00:00:00
abstract:BACKGROUND:Sclerotic bone lesions are often seen on chest CT in adults with tuberous sclerosis complex. OBJECTIVE:To characterize bone lesions at abdominal MRI in children with tuberous sclerosis complex. MATERIALS AND METHODS:This retrospective review included 70 children with tuberous sclerosis complex who had unde...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/s00247-016-3549-3
更新日期:2016-05-01 00:00:00
abstract::Congenital neutropenia is an uncommon entity which may be familial and has a wide spectrum of clinical expression. Three sisters with the severe form of the disease, that suffered from recurrent infections which lead to their demise, are described. Review of their radiographs revealed the presence of cortical thickeni...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/BF02388088
更新日期:1987-01-01 00:00:00