Lee Hsiu-Fen, Chi Ching-Shiang, Tsai Chi-Ren, Chen Hung-Chieh, Lee I-Chun
Division of Nursing, Jen-Teh Junior College of Medicine, Nursing and Management, 79-9, Sha-Luen Hu Xi-Zhou Li Hou-Loung Town, Miaoli, Taiwan.
Department of Pediatrics, Taichung Veterans General Hospital, 1650, Taiwan Boulevard Sec. 4, Taichung, 40705, Taiwan.
Orphanet J Rare Dis. 2017 Jun 19;12(1):115. doi: 10.1186/s13023-017-0668-3.
Isolated sulfite oxidase deficiency (ISOD) is a very rare autosomal recessive inherited neurometabolic disease. The most striking postnatal neuroimaging finding is multicystic encephalomalacia, which occurs rapidly within days to weeks after birth and mimics severe hypoxic-ischemic encephalopathy. The aim of this study was to describe the prenatal neuroimaging features in a neonate and a fetus diagnosed with ISOD.
We report an 11-day-old female neonate who presented with feeding difficulties, decreased activity, neonatal seizures, and movement disorders within a few days after birth. Brain MRI at 9 days of age showed cystic lesions over the left frontal and temporal areas, diffuse and evident T2 high signal intensity of bilateral cerebral cortex, and increased T2 signal intensity of the globus pallidi. A pronounced low level of plasma cysteine and normal level of plasma uric acid were noted. Mutation analysis of SUOX revealed homozygous c.1200C > G mutations, resulting in an amino acid substitution of tyrosine to a stop codon (Y400X). The diagnosis of ISOD was made. The brain MRI of a prenatally diagnosed ISOD fetus of the second pregnancy of the mother of the index case showed poor gyration and differentiation of cortical layers without formation of cystic lesions at gestational age 21 weeks.
Cystic brain destruction might occur prenatally and neurodevelopment of gyration and differentiation of the cortical layers in the developing brain could be affected by sulfite accumulation early during the second trimester in ISOD patients. This is the first description of the prenatal neurodevelopment of brain disruption in ISOD.
孤立性亚硫酸盐氧化酶缺乏症（ISOD）是一种非常罕见的常染色体隐性遗传神经代谢疾病。出生后最显著的神经影像学表现是多囊性脑软化，在出生后数天至数周内迅速出现，类似严重的缺氧缺血性脑病。本研究的目的是描述一名诊断为ISOD的新生儿和一名胎儿的产前神经影像学特征。
我们报告一名11日龄女性新生儿，出生后数天出现喂养困难、活动减少、新生儿惊厥和运动障碍。9日龄时的脑部MRI显示左侧额叶和颞叶区域有囊性病变，双侧大脑皮质弥漫性且明显的T2高信号强度，以及苍白球T2信号强度增加。血浆半胱氨酸水平明显降低，血浆尿酸水平正常。SUOX突变分析显示纯合子c.1200C＞G突变，导致氨基酸由酪氨酸替换为终止密码子（Y400X）。确诊为ISOD。索引病例母亲第二次妊娠中产前诊断为ISOD的胎儿在孕21周时的脑部MRI显示脑回形成不良和皮质层分化不良，无囊性病变形成。
ISOD患者在妊娠中期早期，亚硫酸盐积累可能会影响产前脑囊性破坏的发生，以及发育中大脑皮质层脑回形成和分化的神经发育。这是首次对ISOD患者产前脑破坏的神经发育情况进行描述。
