Brismar J, Ozand P T
Department of Diagnostic Radiology, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
AJNR Am J Neuroradiol. 1995 Apr;16(4):675-83.
To identify a pattern of findings on CT or MR of the brain in glutaric acidemia type I typical enough to permit a correct diagnosis.
Clinical history and findings and brain CT and MR results in 59 previously reported patients (MR in 12) and in 5 new patients (all examined with MR and 3 also with CT) were reviewed.
In half the patients macrocephaly was present, and in half the onset was acute, often following infection and mimicking encephalitis. Although brain atrophy or hypoplasia was found in 61% and white matter changes in 51% of the patients, open opercula (usually very widely open) and often also wide cerebrospinal fluid spaces anterior to the temporal lobes were seen in 93%. Basal ganglia lesions, presenting as volume loss and high T2 signal in the caudate head and often also the lentiform nucleus bilaterally, were found in 44% and extracerebral fluid collections in 7 of 64 patients.
The finding of very widely open opercula suggests glutaric acidemia type I, and if combined with basal ganglia lesions is almost pathognomonic, especially in a child with macrocephaly.
识别I型戊二酸血症患者脑部CT或MR上具有足够典型性、可用于正确诊断的表现模式。
回顾了59例既往报道患者（12例进行了MR检查）以及5例新患者（均进行了MR检查，3例还进行了CT检查）的临床病史、检查结果以及脑部CT和MR结果。
半数患者存在巨头畸形，半数患者起病急，常在感染后发病，类似脑炎。虽然61%的患者存在脑萎缩或发育不全，51%的患者存在白质改变，但93%的患者可见开放的小脑幕（通常开口非常大），且颞叶前方的脑脊液间隙通常也较宽。44%的患者发现基底节病变，表现为双侧尾状核头部以及通常还有豆状核的体积减小和T2高信号，64例患者中有7例存在脑外积液。
小脑幕开口非常大这一表现提示I型戊二酸血症，若与基底节病变同时出现，则几乎具有确诊意义，尤其是在患有巨头畸形的儿童中。
