TY - JOUR
A2 - Pambuccian, Stefan
AU - Bhutada, Ekta
AU - Pyragius, Timothy
AU - Petersen, Scott G.
AU - Niemann, Frans
AU - Matsika, Admire
PY - 2018
DA - 2018/05/09
TI - Perinatal Lethal Gaucher Disease due to RecNcil Recombinant Mutation in the GBA Gene Presenting with Hydrops Fetalis and Severe Congenital Anemia
SP - 2549451
VL - 2018
AB - 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.
SN - 2090-6781
UR - https://doi.org/10.1155/2018/2549451
DO - 10.1155/2018/2549451
JF - Case Reports in Pathology
PB - Hindawi
KW -
ER -