Correlation of MR imaging and MR spectroscopy findings with cognitive impairment in mucopolysaccharidosis II

American Journal of Neuroradiology

Volumn 28, Issue 6, 2007, Pages 1029-1033

  Vedolin, Leonardo M ^a,d   Schwartz, I V D ^b,c   Komlos, M ^a   Schuch, A ^c   Puga, A C ^b   Pinto, L L C ^b   Pires, A P ^b   Giugliani, R ^b,c  

^a HOSPITAL MÃE DE DEUS   (Brazil)

^b HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

^c FEDERAL UNIVERSITY OF RIO GRANDE DO SUL   (Brazil)

^d NONE   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

CHOLINE; CREATINE; INOSITOL; N ACETYLASPARTIC ACID;

ADOLESCENT; ADULT; ARTICLE; BRAIN ATROPHY; CHILD; CLINICAL ARTICLE; COGNITIVE DEFECT; CONTROLLED STUDY; CORRELATION ANALYSIS; DISEASE SEVERITY; FRONTAL LOBE; GRAY MATTER; HUMAN; HUNTER SYNDROME; HYDROCEPHALUS; IMAGE ANALYSIS; INTERMETHOD COMPARISON; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; OCCIPITAL CORTEX; WHITE MATTER;

ADOLESCENT; ADULT; BRAIN; BRAIN CHEMISTRY; CHILD; CHILD, PRESCHOOL; COGNITION DISORDERS; HUMANS; MAGNETIC RESONANCE IMAGING; MAGNETIC RESONANCE SPECTROSCOPY; MALE; MUCOPOLYSACCHARIDOSIS II; STATISTICS;

EID: 34250822221     PISSN: 01956108     EISSN: None     Source Type: Journal    
DOI: 10.3174/ajnr.A0510     Document Type: Article

References (34)

1. Neufeld E, Musner J. The mucopolysaccharidoses. In: Scriver C, Beudet A, Sly W, Valle D, eds. The Metabolic and Molecular Bases on Inherited Disease. 8th ed. New York: McGraw-Hill; 2001:3421-52
2. Meikle PJ, Hopwood JJ, Clague AE, et al. Prevalence of lysosomal storage disorders. JAMA 1999;281:249-54
3. Muenzer J, Wraith JE, Beck M, et al. A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome). Genet Med 2006;8:465-73
4. Lee C, Dineen TE, Brack M, et al. The mucopolysaccharidoses: characterization by cranial MR imaging. AJNR Am J Neuroradiol 1993;14:1285-92
5. Murata R, Nakajima S, Tanaka A, et al. MR imaging of the brain in patients with mucopolysaccharidosis. AJNR Am J Neuroradiol 1989;10:1165-70
6. Shimoda-Matsubayashi S, Kuru Y, Sumie H, et al. MRI findings in the mild type of mucopolysaccharidosis II (Hunter's syndrome). Neuroradiology 1990;32:328-30
7. Parsons VJ, Hughes DG, Wraith JE. Magnetic resonance imaging of the brain, neck and cervical spine in mild Hunter's syndrome (mucopolysaccharidoses type II). Clin Radiol 1996;51:719-23
8. Seto T, Kono K, Morimoto K, et al. Brain magnetic resonance imaging in 23 patients with mucopolysaccharidoses and the effect of bone marrow transplantation. Ann Neurol 2001;50:79-92
9. Gabrielli O, Polonara G, Regnicolo L, et al. Correlation between cerebral MRI abnormalities and mental retardation in patients with mucopolysaccharidoses. Am J Med Genet A 2004;125:224-31
10. Matheus MG, Castillo M, Smith JK, et al. Brain MRI findings in patients with mucopolysaccharidosis types I and II and mild clinical presentation. Neuroradiology 2004;46:666-72
11. Castillo M, Kwock L, Mukherji SK. Clinical applications of proton MR spectroscopy. AJNR Am J Neuroradiol 1996;17:1-15
12. Bianchi MC, Tosetti M, Battini R, et al. Proton MR spectroscopy of mitochondrial diseases: analysis of brain metabolic abnormalities and their possible diagnostic relevance. AJNR Am J Neuroradiol 2003;24:1958-66
13. Hunter JV, Wang ZJ. MR spectroscopy in pediatric neuroradiology. Magn Reson Imaging Clin N Am 2001;9:165-89, ix
14. Takahashi Y, Sukegawa K, Aoki M, et al. Evaluation of accumulated mucopolysaccharides in the brain of patients with mucopolysaccharidoses by (1)H-magnetic resonance spectroscopy before and after bone marrow transplantation. Pediatr Res 2001;49:349-55
15. Siegel DA, Walkley SU. Growth of ectopic dendrites on cortical pyramidal neurons in neuronal storage diseases correlates with abnormal accumulation of GM2 ganglioside. J Neurochem 1994;62:1852-62
16. Hochuli M, Wuthrich K, Steinmann B. Two-dimensional NMR spectroscopy of urinary glycosaminoglycans from patients with different mucopolysaccharidoses. NMR Biomed 2003;16:224-36
17. Vougioukas VI, Berlis A, Kopp MV, et al. Neurosurgical interventions in children with Maroteaux-Lamy syndrome. Case report and review of the literature. Pediatr Neurosurg 2001;35:35-38
18. Robertson SP, Klug GL, Rogers JG. Cerebrospinal fluid shunts in the management of behavioural problems in Sanfilippo syndrome (MPS III). Eur J Pediatr 1998;157:653-55
19. Barone R, Parano E, Trifiletti RR, et al. White matter changes mimicking a leukodystrophy in a patient with mucopolysaccharidosis: characterization by MRI. J Neurol Sci 2002;195:171-75
20. Mancini GM, van Diggelen OP, Huijmans JG, et al. Pitfalls in the diagnosis of multiple sulfatase deficiency. Neuropediatrics 2001;32:38-40
21. Ben-Zeev B, Gross V, Kushnir T, et al. Vacuolating megalencephalic leukoencephalopathy in 12 Israeli patients. J Child Neurol 2001;16:93-99
22. Kurihara M, Kumagai K, Goto K, et al. Severe type Hunter's syndrome. Polysomnographic and neuropathological study. Neuropediatrics 1992;23:248-56
23. Meier C, Wismann U, Herschkowitz N, et al. Morphological observations in the nervous system of prenatal mucopolysaccharidosis II (M. Hunter). Acta Neuropathol (Berl) 1979;48:139-43
24. Brand A, Richter-Landsberg C, Leibfritz D. Multinuclear NMR studies on the energy metabolism of glial and neuronal cells. Dev Neurosci 1993;15:289-98
25. Katz-Brull R, Lenkinski RE, Du Pasquier RA, et al. Elevation of myoinositol is associated with disease containment in progressive multifocal leukoencephalopathy. Neurology 2004;63:897-900
26. Vrenken H, Barkhof F, Uitdehaag BM, et al. MR spectroscopic evidence for glial increase but not for neuro-axonal damage in MS normal-appearing white matter. Magn Reson Med 2005;53:256-66
27. Ashwal S, Holshouser B, Tong K, et al. Proton spectroscopy detected myoinositol in children with traumatic brain injury. Pediatr Res 2004;56:630-38
28. Mucke L, Oldstone MB, Morris JC, et al. Rapid activation of astrocyte-specific expression of GFAP-lacZ transgene by focal injury. New Biol 1991;3:465-74
29. Kim JP, Lentz MR, Westmoreland SV, et al. Relationships between astrogliosis and 1H MR spectroscopic measures of brain choline/creatine and myo-inositol/creatine in a primate model. AJNR Am J Neuroradiol 2005;26:752-59
30. Walkley SU. Cellular pathology of lysosomal storage disorders. Brain Pathol 1998;8:175-93
31. Walkley SU, Haskins ME, Shull RM. Alterations in neuron morphology in mucopolysaccharidosis type I. A Golgi study. Acta Neuropathol (Berl) 1988;75:611-20
32. Inglese M, Nusbaum AO, Pastores GM, et al. MR imaging and proton spectroscopy of neuronal injury in late-onset GM2 gangliosidosis. AJNR Am J Neuroradiol 2005;26:2037-42
33. Yamasue H, Fukui T, Fukuda R, et al. 1H-MR spectroscopy and gray matter volume of the anterior cingulate cortex in schizophrenia. Neuroreport 2002;13:2133-37
34. Saraf-Lavi E, Bowen BC, Pattany PM, et al. Proton MR spectroscopy of gliomatosis cerebri: case report of elevated myoinositol with normal choline levels. AJNR Am J Neuroradiol 2003;24:946-51