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Abstract：
Perinatal lethal Gaucher disease (PLGD), a particular and serious form of type 2 Gaucher disease (GD), often causes lethality in utero or death within hours after birth. The typical clinical manifestations include non-immune hydrops fetalis (NIHF), premature birth, fetal growth restriction, fetal intrauterine death, or neonatal distress and rapid death after birth. Here, we present a premature neonate with GD whose main clinical manifestations included intrauterine growth retardation, anasarca, facial dysmorphia, ichthyosis, respiratory distress, hepatosplenomegaly, joint contractures, myoclonus, refractory thrombocytopenia, anemia, elevated levels of liver enzymes, bile acid and direct bilirubin, cholestasis, pulmonary hypoplasia, intracranial hemorrhage, and abnormal electroencephalogram. The activity of β- glucocerebrosidase was 0 in the peripheral white blood cells of the neonate. The sequencing analysis identified the presence of missense G234E and H413P heterozygous mutations in glucerebrosidase (GBA) exon 7 and 10, with the latter first observed to be associated with PLGD. This infant died at 73 days of age.
摘要：
围产期致死戈谢病（PLGD），一种特殊和严重的2型戈谢病（GD），通常在子宫内致死或在出生后数小时内死亡。典型的临床表现包括非免疫性胎儿水肿（NIHF），早产,胎儿生长受限,胎儿宫内死亡，或新生儿窘迫和出生后快速死亡。这里,我们介绍了一名患有GD的早产儿，其主要临床表现包括宫内发育迟缓，Anasarca,面部畸形,鱼鳞病,呼吸窘迫,肝脾肿大,关节挛缩,肌阵鸣,难治性血小板减少症,贫血,肝酶水平升高，胆汁酸和直接胆红素，胆汁淤积,肺发育不全,颅内出血,和异常的脑电图。新生儿外周血白细胞β-葡萄糖脑苷脂酶活性为0。测序分析鉴定了葡糖脑苷脂酶(GBA)外显子7和10中存在错义G234E和H413P杂合突变,其中首先观察到后者与PLGD相关。这名婴儿在73岁时死亡。
