Neuroimaging of inherited metabolic disorders producing seizures

Brain and Development

Volumn 33, Issue 9, 2011, Pages 734-744

  Zimmerman, Robert A ^a  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

Author keywords

Metabolic diseases; MRI; Proton MRS

Indexed keywords

ACIDURIA; ADRENOLEUKODYSTROPHY; ALEXANDER DISEASE; BRAIN ATROPHY; BRAIN MALFORMATION; CANAVAN DISEASE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ENZYME DEFICIENCY; FUCOSIDOSIS; GLOBOID CELL LEUKODYSTROPHY; GLUTARIC ACIDURIA TYPE 1; HOMOCYSTINURIA; HUMAN; LEUKODYSTROPHY; LEUKOENCEPHALOPATHY; MAPLE SYRUP URINE DISEASE; MEGALENCEPHALIC LEUKOENCEPHALOPATHY; METABOLIC DISORDER; METACHROMATIC LEUKODYSTROPHY; METHYLMALONIC ACIDURIA; MUCOLIPIDOSIS TYPE 2; MUCOPOLYSACCHARIDOSIS; MYELINATION; NEUROENDOCRINE DISEASE; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PELIZAEUS MERZBACHER DISEASE; REVIEW; SEIZURE;

BRAIN DISEASES, METABOLIC; HUMANS; MAGNETIC RESONANCE IMAGING; MAGNETIC RESONANCE SPECTROSCOPY; SEIZURES;

EID: 80052458533     PISSN: 03877604     EISSN: 18727131     Source Type: Journal    
DOI: 10.1016/j.braindev.2011.03.006     Document Type: Review

References (24)

1. Wang Z.H., Zimmerman R.A. The value of proton MR spectroscopy in pediatric metabolic brain disease. Am J Neuroradiol 1997, 18:1872-1879.
2. Berry G.T., Hunter J.V., Wang Z., Dreha S., Mazur A., Brooks D.G. In vivo evidence of brain galactitol accumulation in an infant with galactosemia and encephalopathy. J Pediatrics 2001, 138:260-262.
3. Wang Z.J., Berry G.T., Dreha S.F., Zhao H., Segel S., Zimmerman R.A. Proton MRS of brain metabolites in galactosemia. Ann Neurol 2001, 50:266-269.
4. Stockler S., Holzbach U., Hanefeld F., Marquardt I., Helms G., Requart M., et al. Creatine deficiency in the brain: a new, treatable inborn error of metabolism. Pediatric Research 1994, 36:409-413.
5. Marks H.G., Caro P.A., Wang Z.Y., Detre J.A., Bogdan A.R., Gusnard D.A., et al. Use of computed tomography, magnetic resonance imaging, and localized 1H magnetic resonance spectroscopy in Canavan's disease: a case report. Ann Neurol 1991, 30:106-110.
6. Brismar J., Brismar G., Gascon G., Ozand P. Canavan disease: CT and MR imaging of the brain. Am J Neuroradiol 1990, 11:805-810.
7. van der Knaap M.S., Naidu S., Breiter S.N., Blaser S., Stroink H., Springer S., et al. Alexander disease: diagnosis with MR imaging. Am J Neuroradiol 2001, 22:541-552.
8. Moser H.W., Loes D.J., Melhem E.R., Raymond G.V., Bezman L., Cox C.S., et al. X-linked adrenoleukodystrophy: overview and prognosis as a function of age and brain magnetic resonance imaging abnormality. A study involving 372 patients. Neuropediatrics 2000, 31:227-239.
9. Confort-Gouny S., Vion-dury J., Chabrol B., Nicoli E., Cozzone P.J. Localised proton MRS in X-linked adrenoleukodystrophy. Neuroradiology 1995, 37:568-575.
10. Melhem E.R., Loes D.J., Georgiades C.S., Raymond G.V., Moser H.W. X-linked adrenoleukodystrophy: the role of contrast-enhanced MR imaging in predicting disease progression. Am J Neuroradiol 2000, 21:839-844.
11. de Grauw T.J., Smit L.M., Brockstedt M., Meijer Y., vd Klei-von Moorsel J., Jakobs C. Acute hemiparesis as the presenting sign in a heterozygote for ornithine transcarbamylase deficiency. Neuropediatrics 1990, 21:133-135.
12. Takanashi J.-I., Barkovich A.J., Cheng S.F., Kostiner D., Baker J.C., Packman S. Brain MR imaging in acute hyperammonemic encephalopathy arising from late-onset ornithine transcarbamylase deficiency. Am J Neuroradiol 2003, 24:390-393.
13. Santavuori P., Vanhanen S.L., Autti T. Clinical and neuroradiological diagnostic aspects of neuronal ceroid lipofuscinoses disorders. Eur J Paediatr Neurol 2001, 5(Suppl. A):157-161.
14. Detre J.A., Wang Z., Bogdan A.R., Gusnard D.A., Bay C.A., Bingham P.M., et al. Regional variation in brain lactate in Leigh syndrome by localized 1H MRS. Ann Neurol 1991, 29:218-221.
15. Bismar J., Ozand P.T. CT and MR of the brain in glutaric aciduria type I: a review of 59 published cases and a report of 5 new patients. Am J Neuroradiol 1995, 16:675-683.
16. Jan W., Zimmerman R.A., Wang Z.J., Berry G.T., Kaplan P.B., Kaye E.M. MR diffusion imaging and MR spectroscopy of maple syrup urine disease during acute metabolic decompensation. Neuroradiology 2003, 45:393-399.
17. Schiffmann R., van der Knaap M.S. An MRI-based approach to the diagnosis of white matter disorders. Neurology 2009, 72:750-759.
18. Faerber E.N., Melvin J.J., Smergel E.M. MRI appearances of metachromatic leukodystrophy. Pediatr Radiol 1999, 29:669-672.
19. Nezu A., Kimura S., Takeshita S., Osaka H., Kimura K., Inoue K. An MRI and MRS study of Pelizaeus-Merzbacher disease. Pediatr Neurol 1998, 18:334-337.
20. D'Incerti L., Farina L., Moroni I., Uziel G., Savoiardo M. L-2-Hydroxyglutaric aciduria: MRI in seven cases. Neuroradiology 1998, 40:727-733.
21. De Stefano N., Dotti M.T., Mortilla M., Federico A. Magnetic resonance imaging and spectroscopic changes in brains of patients with cerebrotendinous xanthomatosis. Brain 2001, 124:121-131.
22. De Haan J., Grossman R.I., Civitello L., Hackney D.B., Goldberg H.I., Bilaniuk L.T., et al. High-field magnetic resonance imaging of Wilson's disease. J Comput Tomogr 1987, 11:132-135.
23. Shevell M.I., Matthews P.M., Scriver C.R., Brown R.M., Otero L.J., Legris M., et al. Cerebral dysgenesis and lactic academia: an MRI/MRS phenotype associated with pyruvate dehydrogenase deficiency. Pediatr Neurol 1994, 11:224-229.
24. Barkovich A.J., Peck W.W. MR of Zellweger syndrome. Am J Neuroradiol 1997, 18:1163-1170.