Wang Kevin Y, Barker Peter B, Lin Doris D M
Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Divison of Neuroradiology, The Russel H. Morgan Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine, 600 North Wolfe Street, Baltimore, MD, 21287, USA.
Childs Nerv Syst. 2016 Jul;32(7):1305-9. doi: 10.1007/s00381-015-2942-9. Epub 2015 Oct 24.
Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare autosomal recessive disorder of γ-aminobutyric acid metabolism, leading to elevated levels of γ-aminobutyric acid and γ-hydroxybutyric acid in cerebrospinal fluid.
We describe the neuroimaging findings of a previously healthy 6-month-old girl with acute onset of lethargy, hypotonia, and choreiform movements, and a subsequent diagnosis of SSADH deficiency. Magnetic resonance (MR) imaging of the brain revealed symmetric T2 hyperintense signal abnormalities and reduced diffusivity of the globus pallidi bilaterally. Arterial spin-labeling perfusion MR imaging suggested bilateral hyperperfusion of the globus pallidi. MR spectroscopy of the thalamus and frontal lobe white matter revealed increased signal intensity in the glutamate and glutamine region of the spectra between 2.1 and 2.4 ppm.
The unique early imaging findings described here may be attributable to bioenergetic failure and deficiency in mitochondrial energy metabolism and are consistent with SSADH-knockout mice studies.
琥珀酸半醛脱氢酶（SSADH）缺乏症是一种罕见的常染色体隐性γ-氨基丁酸代谢紊乱疾病，导致脑脊液中γ-氨基丁酸和γ-羟基丁酸水平升高。
我们描述了一名此前健康的6个月大女孩的神经影像学表现，该女孩急性起病，出现嗜睡、肌张力减退和舞蹈样动作，随后被诊断为SSADH缺乏症。脑部磁共振成像（MR）显示双侧苍白球对称的T2高信号异常以及扩散率降低。动脉自旋标记灌注MR成像显示双侧苍白球血流灌注增加。丘脑和额叶白质的磁共振波谱显示，在2.1至2.4 ppm之间的光谱谷氨酸和谷氨酰胺区域信号强度增加。
此处描述的独特早期影像学表现可能归因于生物能量衰竭和线粒体能量代谢缺陷，与SSADH基因敲除小鼠研究结果一致。
