van der Knaap M S, Bakker H D, Valk J
Department of Child Neurology, Free University Hospital, Amsterdam, The Netherlands.
AJNR Am J Neuroradiol. 1998 Feb;19(2):378-82.
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.
对3例3-羟基-3-甲基戊二酰辅酶A裂解酶缺乏症患者进行了磁共振成像（MR成像）和质子磁共振波谱检查。在2例临床症状正常的患者中，MR图像显示脑白质信号强度弥漫性轻度异常，叠加有多个信号异常更明显的病灶。在第3例临床发育迟缓且有脑性视力障碍的患者中，MR成像显示，除脑白质弥漫性信号异常外，枕叶萎缩性瘢痕形成以及丘脑和基底神经节信号强度异常。枕叶和基底核的额外病变极有可能与该患者经历的严重新生儿低血糖发作有关。MR波谱异常与MR成像所示的疾病程度相关。
