Perinatal Lethal Gaucher Disease due to RecNcil Recombinant Mutation in the GBA Gene Presenting with Hydrops Fetalis and Severe Congenital Anemia
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 intr...
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| Format: | Article |
| Language: | English |
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Wiley
2018-01-01
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| Series: | Case Reports in Pathology |
| Online Access: | http://dx.doi.org/10.1155/2018/2549451 |
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| _version_ | 1832562635991678976 |
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| author | Ekta Bhutada Timothy Pyragius Scott G. Petersen Frans Niemann Admire Matsika |
| author_facet | Ekta Bhutada Timothy Pyragius Scott G. Petersen Frans Niemann Admire Matsika |
| author_sort | Ekta Bhutada |
| collection | DOAJ |
| description | 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 GBA 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. |
| format | Article |
| id | doaj-art-c31ac8882af84cd5a35521377bab1018 |
| institution | Kabale University |
| issn | 2090-6781 2090-679X |
| language | English |
| publishDate | 2018-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Pathology |
| spelling | doaj-art-c31ac8882af84cd5a35521377bab10182025-02-03T01:22:12ZengWileyCase Reports in Pathology2090-67812090-679X2018-01-01201810.1155/2018/25494512549451Perinatal Lethal Gaucher Disease due to RecNcil Recombinant Mutation in the GBA Gene Presenting with Hydrops Fetalis and Severe Congenital AnemiaEkta Bhutada0Timothy Pyragius1Scott G. Petersen2Frans Niemann3Admire Matsika4Mater Pathology, Mater Health Services, South Brisbane, QLD, AustraliaNational Referral Laboratory, Genetics and Molecular Pathology, SA Pathology, North Adelaide, SA, AustraliaCentre for Maternal Fetal Medicine, Mater Health Services, South Brisbane, QLD, AustraliaMater Pathology, Mater Health Services, South Brisbane, QLD, AustraliaMater Pathology, Mater Health Services, South Brisbane, QLD, AustraliaA 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 GBA 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.http://dx.doi.org/10.1155/2018/2549451 |
| spellingShingle | Ekta Bhutada Timothy Pyragius Scott G. Petersen Frans Niemann Admire Matsika Perinatal Lethal Gaucher Disease due to RecNcil Recombinant Mutation in the GBA Gene Presenting with Hydrops Fetalis and Severe Congenital Anemia Case Reports in Pathology |
| title | Perinatal Lethal Gaucher Disease due to RecNcil Recombinant Mutation in the GBA Gene Presenting with Hydrops Fetalis and Severe Congenital Anemia |
| title_full | Perinatal Lethal Gaucher Disease due to RecNcil Recombinant Mutation in the GBA Gene Presenting with Hydrops Fetalis and Severe Congenital Anemia |
| title_fullStr | Perinatal Lethal Gaucher Disease due to RecNcil Recombinant Mutation in the GBA Gene Presenting with Hydrops Fetalis and Severe Congenital Anemia |
| title_full_unstemmed | Perinatal Lethal Gaucher Disease due to RecNcil Recombinant Mutation in the GBA Gene Presenting with Hydrops Fetalis and Severe Congenital Anemia |
| title_short | Perinatal Lethal Gaucher Disease due to RecNcil Recombinant Mutation in the GBA Gene Presenting with Hydrops Fetalis and Severe Congenital Anemia |
| title_sort | perinatal lethal gaucher disease due to recncil recombinant mutation in the gba gene presenting with hydrops fetalis and severe congenital anemia |
| url | http://dx.doi.org/10.1155/2018/2549451 |
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