Neuroimaging findings in infantile GM1 gangliosidosis

European Journal of Paediatric Neurology

Volumn 10, Issue 5-6, 2006, Pages 245-248

  Erol, Ilknur ^a   Alehan, Füsun ^a   Ali Pourbagher, M ^a   Canan, Oguz ^a   Vefa Yildirim, S ^a  

^a BASKENT UNIVERSITY   (Turkey)

Author keywords

Child; GM1 gangliosidosis; MRI; MRS

Indexed keywords

BETA GALACTOSIDASE; CHOLINE; CREATININE; GLYCOSPHINGOLIPID; N ACETYLASPARTIC ACID;

ARTICLE; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; DIAGNOSTIC IMAGING; FEMALE; GM1 GANGLIOSIDOSIS; HUMAN; LABORATORY TEST; METABOLIC DISORDER; NEUROIMAGING; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; PRESCHOOL CHILD; PRIORITY JOURNAL; THALAMUS; TURKEY (REPUBLIC);

ASPARTIC ACID; BRAIN; CHOLINE; FEMALE; GANGLIOSIDOSIS, GM1; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MAGNETIC RESONANCE SPECTROSCOPY; TOMOGRAPHY, X-RAY COMPUTED;

EID: 33751312489     PISSN: 10903798     EISSN: 15322130     Source Type: Journal    
DOI: 10.1016/j.ejpn.2006.08.005     Document Type: Article

References (17)

1. Suzuki Y., Sakuraba H., and Oshima A. β-Galactosidase deficiency (galactosidosis): GM1 gangliosidosis and Morquio B disease. In: Scriver C.R., Beaudet A.L., Sly W.S., et al. (Eds). The metabolic and molecular bases of inherited disease. 7th ed (1995), McGraw-Hill, New York 2785-2823
2. Pouwels P.J., Brockmann K., Kruse B., et al. Regional age dependence of human brain metabolites from infancy to adulthood as detected by quantitative localized proton MRS. Pediatr Res 46 (1999) 474-485
3. Kobayashi O., and Takashima S. Thalamic hyperdensity on CT in infantile GM1-gangliosidosis. Brain Dev 16 (1994) 472-474
4. Brismar J., Brismar G., Coates R., Gascon G., and Ozand P. Increased density of the thalamus on CT scans in patients with GM2 gangliosidosis. AJNR 11 (1990) 125-130
5. Kaye E.M., Alroy J., Raghavan S.S., et al. Dysmyelinogenesis in animal model of GM1 gangliosidosis. Pediatr Neurol 8 (1992) 255-261
6. Al-Essa M.A., Bakheet S.M., Patay Z.J., Nounou R.M., and Ozand P.T. Cerebral fluorine-18 labeled 2-fluoro-2-deoxyglucose positron emission tomography (FDG PET), MRI, and clinical observations in a patient with infantile GM1 gangliosidosis. Brain Dev 21 (1999) 559-562
7. Moore G.J. Proton magnetic resonance spectroscopy in pediatric neuroradiology. Pediatr Radiol 28 (1998) 805-814
8. Filippi C.G., Ulug A.M., Deck M.D., Zimmerman R.D., and Heier L.A. Developmental delay in children: assessment with proton MR spectroscopy. AJNR 23 (2002) 882-888
9. Kaye E.M., and van der Knaap M.S. Disorders primarily of white matter. In: Swaiman K.F., Asshwal S., and Ferriero D.M. (Eds). Pediatric neurology principles & practice. 4th ed (2006), Mosby Elsevier, Philadelphia 1345-1373
10. Muller G., Alldinger S., Moritz A., et al. GM1-gangliosidosis in Alaskan huskies: clinical and pathologic findings. Vet Pathol 38 (2001) 281-290
11. Di Rocco M., Rossi A., Parenti G., et al. Different molecular mechanisms leading to white matter hypomyelination in infantile onset lysosomal disorders. Neuropediatrics 36 (2005) 265-269
12. Gururaj A., Sztriha L., Hertecant J., et al. Magnetic resonance imaging findings and novel mutations in GM1 gangliosidosis. J Child Neurol 20 (2005) 57-60
13. Folkerth R.D., Alroy J., Bhan I., and Kaye E.M. Infantile GM1 gangliosidosis: complete morphology and histochemistry of two autopsy cases, with particular reference to delayed central nervous system myelination. Pediatr Dev Pathol 3 (2000) 73-86
14. van der Voorn J.P., Kamphorst W., van der Knaap M.S., and Powers J.M. The leukoencephalopathy of infantile GM1 gangliosidosis: oligodendrocytic loss and axonal dysfunction. Acta Neuropathol (Berl) 107 (2004) 539-545
15. Hanefeld F.A., Brockmann K., Pouwels P.J., et al. Quantitative proton MRS of Pelizaeus-Merzbacher disease: evidence of dys- and hypomyelination. Neurology 13 (2005) 701-706
16. Brockmann K., Dechent P., Wilken B., et al. Proton MRS profile of cerebral metabolic abnormalities in Krabbe disease. Neurology 11 (2003) 819-825
17. Aydin K., Bakir B., Tatli B., Terzibasioglu E., and Ozmen M. Proton MR spectroscopy in three children with Tay-Sachs disease. Pediatr Radiol 35 (2005) 1081-1085