Premium
Nonimmune fetal hydrops and lysosomal storage disease: the finding of vacuolated lymphocytes in ascitic fluid in two cases
Author(s) -
Dugan R. B.,
Pletneva M. A.,
Salari K.,
Berman D. R.,
Treadwell M. C.
Publication year - 2014
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.4274
Subject(s) - hydrops fetalis , lysosomal storage disease , fetus , in utero , pathology , ascitic fluid , mucopolysaccharidosis , etiology , disease , prenatal diagnosis , medicine , mucopolysaccharidosis type i , biology , immunology , pregnancy , gastroenterology , ascites , enzyme replacement therapy , genetics
What's already known about this topic?Nonimmune fetal hydrops (NIFH) is a heterogeneous condition and establishing a diagnosis can be challenging. Inborn errors of metabolism are one of many possible etiologies for NIFH. Inborn errors of metabolism are often missed in utero.What does this study add?We present two cases of NIFH caused by underlying lysosomal storage disease: galactosialidosis and mucopolysaccharidosis type VII. The unique finding of vacuolated lymphocytes in fetal peritoneal fluid lead to the diagnosis.