Bhutada Ekta, Pyragius Timothy, Petersen Scott G, Niemann Frans, Matsika Admire
Mater Pathology, Mater Health Services, South Brisbane, QLD, Australia.
Department of Biomedical Sciences, Faculty of Medicine, University of Queensland, Brisbane, QLD, Australia.
Case Rep Pathol. 2018 May 9;2018:2549451. doi: 10.1155/2018/2549451. eCollection 2018.
A 35-year-old woman presented at 27-week gestation with hypertension and pedal edema. Antenatal scan showed hydrops fetalis and growth restriction. Cordocentesis showed severe fetal anemia. This was treated with multiple in utero blood transfusions with no clinically significant improvement and intrauterine death occurred at 28 weeks. Perinatal autopsy confirmed severe hydrops with hepatosplenomegaly and visceral effusions. Microscopic examination of the reticuloendothelial organs showed widespread infiltration by large mono- and multinucleate histiocytic cells with fibrillary appearance ("Gaucher cells"). DNA extracted from fetal tissue was submitted for analysis by next generation sequencing which revealed homozygosity for the RecNcil mutation in the gene. Both parents were found to be heterozygous for the variant. The case report highlights a severe form of Gaucher disease with histopathological and molecular confirmation that presents with hydrops fetalis and severe refractory anemia. It also emphasizes the importance of perinatal autopsy coupled with exome sequencing in confirming syndromic diagnosis in the modern area.
一名35岁女性在妊娠27周时出现高血压和足部水肿。产前超声检查显示胎儿水肿和生长受限。脐带穿刺显示严重胎儿贫血。对此进行了多次宫内输血治疗，但无临床显著改善，胎儿于28周时发生宫内死亡。围产期尸检证实存在严重水肿，伴有肝脾肿大和内脏积液。对网状内皮器官的显微镜检查显示，有大量呈纤维状外观的单核和多核组织细胞广泛浸润（“戈谢细胞”）。从胎儿组织中提取的DNA进行下一代测序分析，结果显示该基因中RecNcil突变呈纯合状态。发现父母双方均为该变异的杂合子。该病例报告突出了一种严重形式的戈谢病，通过组织病理学和分子学确认，其表现为胎儿水肿和严重难治性贫血。它还强调了围产期尸检结合外显子组测序在现代领域确诊综合征诊断中的重要性。
