MR-IMAGING AND PROTON SPECTROSCOPY IN 3-HYDROXY-3-METHYLGLUTARYL COENZYME-A LYASE DEFICIENCY

Three patients with 3-hydroxy-3-methylglutaryl coenzyme A lyase defici ency mere examined,vith MR imaging and proton MR spectroscopy. In two patients, bath clinically normal, MR images showed a diffuse mild abno rmality in signal intensity of the cerebral white matter, with multipl e foci of more pronounced signal abnormality superimposed. In the thir d patient, who was clinically retarded and had a cerebral visual impai rment, 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 an a basal nuclei were related to the episode of severe neonatal hypoglyc emia the patient. experienced. The MR spectroscopic abnormalities corr elated with the degree of disease as evidenced by MR imaging.