Original contributionMagnetic resonance imaging in the diagnosis of the cranio-cervical manifestations of the mucopolysaccharidoses
References (18)
- et al.
Diagnosis of Mucopolysaccharidosis using 1 H-n.m.r. spectroscopy of glycosaminoglycans
Carbohydrate Research
(1986) - et al.
Comparison of CT and MR in 400 patients with suspected disease of the brain and cervical spinal cord
Radiology
(1984) - et al.
Mucopolysaccharidosis types I, II, IIIA and V pathological and biochemical abnormalities in the neural and mesenchymal elements of the brain
Acta Neuropath (Berl.)
(1977) - et al.
Mucopolysaccharidosis type V (Scheie syndrome)
Arch. Path. Lab. Med.
(1976) - et al.
CT metrizamide myelography of the cervical spine in Morquio syndrome
AJNR
(1982) - et al.
Magnetic resonance imaging compared with computed tomography in adrenoleuckodystrophy
AJDC
(1986) - et al.
Magnetic resonance imaging of the brain in Hurler syndrome
AJNR
(1984) - et al.
Mr imaging of the craniovertebral junction
AJNR
(1985) - et al.
Neuroradiologic findings in AIDS: A review of 200 cases
AJR
(1986)
Cited by (60)
Clinical Manifestations and Surgical Management of Spinal Lesions in Patients With Mucopolysaccharidosis: A Report of 52 Cases
2019, Spine DeformityCitation Excerpt :We also do not support this argument, as we have seen patients with dysraphism without instability of C1–C2. The third instability factor determined by Ransford et al. [9] was GAG deposits around the dens of the axis and close to the posterior longitudinal ligament, known as fibrocartilage neo tissue, similar to findings by Kulkarni et al. [13]. These were easily seen in the preoperative MRI in our patients but did not totally disappear in the postoperative MRIs.
The Pediatric Airway
2019, A Practice of Anesthesia for Infants and ChildrenAnatomical changes and pathophysiology of the brain in mucopolysaccharidosis disorders
2018, Molecular Genetics and MetabolismCitation Excerpt :Multifocal or diffuse white matter lesions are almost universally present in all these MPS types (Fig. 1A) [5, 18] and have been shown to be more abundant in MPS II patients with cognitive impairment [19] and to increase in number with increasing disease duration [20]. Increased signal intensity in the periventricular white matter has been reported for MPS I, II, III, and VII [21–23]. Dilated perivascular spaces (PVS), also referred to as cribriform changes, are among the most frequently observed CNS abnormalities in MPS I, II, and III patients (Fig. 1B) [21, 24–28].
Abnormalities of the craniovertebral junction in the paediatric population: a novel biomechanical approach
2018, Clinical RadiologyCitation Excerpt :Additional features in the cervical spine include platyspondyly and anterior vertebral beaking. Similar features are demonstrated in Hunter syndrome (MPS II),65,71–73 Hurler syndrome (MPS I),63,74–78 and Maroteaux–Lamy syndrome (MPS VI).79,80 Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominant disorder caused by heterozygous mutations in COL2A1 genes encoding type 2 collagen.
The Pediatric Airway
2018, A Practice of Anesthesia for Infants and ChildrenQuantitative neuroimaging in mucopolysaccharidoses clinical trials
2017, Molecular Genetics and Metabolism