Abstract：
Oculocerebrorenal syndrome (Lowe syndrome) is a rare X-linked disorder affecting 1/500,000 males that most frequently affects the eyes, central nervous system, and kidneys. Phenotypic presentation includes congenital cataracts, developmental delay, intellectual disability, and Fanconi-type renal dysfunction. Lowe Syndrome is caused by hemizygous loss of function variants in the OCRL gene. While individuals may live into the third and fourth decade of life, some will die in the first few years of either renal failure or infection. While early diagnosis is important, few cases have documented the prenatal phenotype of this condition, which has included bilateral cataracts and variable neurological abnormalities. We report a case of a family with an extensive history of congenital cataracts, immune compromise, and neonatal death in male members. The fetus was found to have a unilateral cataract, mild ventriculomegaly, vertebral anomalies, and an underlying diagnosis of Lowe Syndrome with a mutation in OCRL at c.2582-1G>C (IVS23-1G>C).
摘要：
眼脑肾综合征（Lowe综合征）是一种罕见的X连锁疾病，影响1/500,000男性，最常影响眼睛，中枢神经系统,还有肾脏.表型表现包括先天性白内障，发育迟缓,智力残疾,和Fanconi型肾功能不全.Lowe综合征是由OCRL基因功能变异的半合子丧失引起的。虽然个人可能活到生命的第三和第四个十年，有些人会在肾衰竭或感染的最初几年死亡。早期诊断很重要,很少有病例记录了这种情况的产前表型，其中包括双侧白内障和各种神经系统异常。我们报告了一个有广泛先天性白内障病史的家庭，免疫妥协，男性成员的新生儿死亡。胎儿被发现患有单侧白内障，轻度脑室增宽,椎骨异常,以及Lowe综合征的潜在诊断，其OCRL突变为c.2582-1G>C（IVS23-1G>C）。
