Lee H F, Mak B S C, Chi C S, Tsai C R, Chen C H, Shu S G
Department of Pediatrics, Taichung Veterans General Hospital, Taichung, Taiwan.
Neuropediatrics. 2002 Aug;33(4):174-9. doi: 10.1055/s-2002-34491.
Isolated sulphite oxidase deficiency (ISOD) is a very rare hereditary metabolic disorder. Imaging findings of the neonatal form of ISOD, including multicystic leukoencephalopathy with brain atrophy, resemble those of severe ischemic changes of the brain. We report the case of a ten-month-old boy who exhibited neonatal seizures on the 24th day after birth. Excessive quantities of sulphite and S-sulphocysteine in the urine and normal blood uric acid were noted. These findings were consistent with those of ISOD. Point mutations were found in two alleles of the sulphite oxidase (SUOX) gene. One of the mutations was a 1029 C > G mutation, which resulted in an amino acid substitution of tyrosine to a stop code (Y343 X); and the other was a 479 G > A mutation, which resulted in an amino acid substitution of arginine to glutamine (R160 Q). Y343 X is a novel SUOX gene mutation. A review of the literature, including data from this report, showed that 3 of 6 cases had typical imaging findings characterized by initial cerebral edema followed by dramatic multicystic leukoencephalopathy. We emphasize that neonatal ISOD should be included in the differential diagnosis of neonates with unexplained hypoxic-ischemic changes on neuroimaging studies.
孤立性亚硫酸盐氧化酶缺乏症（ISOD）是一种非常罕见的遗传性代谢紊乱疾病。ISOD新生儿型的影像学表现，包括伴有脑萎缩的多囊性白质脑病，与严重的脑缺血性改变相似。我们报告了一例10个月大男孩的病例，该男孩在出生后第24天出现新生儿惊厥。尿液中发现大量亚硫酸盐和S-磺基半胱氨酸，血尿酸正常。这些发现与ISOD相符。在亚硫酸盐氧化酶（SUOX）基因的两个等位基因中发现了点突变。其中一个突变是1029 C＞G突变，导致酪氨酸被终止密码子取代（Y343X）；另一个是479 G＞A突变，导致精氨酸被谷氨酰胺取代（R160Q）。Y343X是一种新的SUOX基因突变。对包括本报告数据在内的文献回顾显示，6例中有3例具有典型的影像学表现，其特征为最初的脑水肿，随后是显著的多囊性白质脑病。我们强调，在对神经影像学检查显示有不明原因的缺氧缺血性改变的新生儿进行鉴别诊断时，应考虑新生儿ISOD。
