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RT Journal Article
SR Electronic
T1 MR imaging and proton spectroscopy in 3-hydroxy-3-methylglutaryl coenzyme A lyase deficiency.
JF American Journal of Neuroradiology
JO Am. J. Neuroradiol.
FD American Society of Neuroradiology
SP 378
OP 382
VO 19
IS 2
A1 van der Knaap, M S
A1 Bakker, H D
A1 Valk, J
YR 1998
UL http://www.ajnr.org/content/19/2/378.abstract
AB Three patients with 3-hydroxy-3-methylglutaryl coenzyme A lyase deficiency were examined with MR imaging and proton MR spectroscopy. In two patients, both clinically normal, MR images showed a diffuse mild abnormality in signal intensity of the cerebral white matter, with multiple foci of more pronounced signal abnormality superimposed. In the third patient, who was clinically retarded and had a cerebral visual impairment, MR imaging showed, in addition to a diffuse signal abnormality of the cerebral white matter, atrophic scarring of the occipital lobes and abnormal signal intensity of the thalami and basal ganglia. It is highly probable that the additional lesions in the occipital lobes and basal nuclei were related to the episode of severe neonatal hypoglycemia the patient experienced. The MR spectroscopic abnormalities correlated with the degree of disease as evidenced by MR imaging.