title: An autophagic vacuolar myopathy-like disorder presenting as nonimmune hydrops in a female fetus.
abstract: A 37-year-old woman presented for routine obstetrical care at 15 weeks' gestational age and the fetus was found to have hydrops fetalis. Following elective termination of the pregnancy at 18 weeks' gestational age, pathologic examination of the female conceptus revealed findings suggestive of a lysosomal storage disease within the liver and cardiac muscle. Enzyme assays for beta-galactosidase, neuraminidase, alpha-l-iduronidase, beta-glucuronidase, beta-glucosidase, Morquio disease type A enzyme, beta-fucosidase, alpha-mannosidase, and beta-mannosidase were all normal, ruling out many of the common storage diseases. Electron microscopy identified vacuoles within hepatocytes, Kupffer cells, and cardiac myocytes resembling the autophagic vacuoles characteristic of a group of diseases known as the autophagic vacuolar myopathies (AVMs). Because these diseases are exceptionally rare in females, and because such autophagic vacuoles have never before been described in liver, we propose a novel entity of "AVM-like lysosomal storage disease" presenting as nonimmune hydrops in a female fetus.
authors.affiliation: Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada.
authors.forename: Charis
authors.initials: C
authors.lastname: Kepron
authors.forename: Andrea
authors.initials: A
authors.lastname: Blumenthal
authors.forename: David
authors.initials: D
authors.lastname: Chitayat
authors.forename: Ernest
authors.initials: E
authors.lastname: Cutz
authors.forename: Andrea
authors.initials: A
authors.lastname: Superti-Furga
authors.forename: Sarah
authors.initials: S
authors.lastname: Keating
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology; D000328:Adult; D001343:Autophagy; D005260:Female; D005333:Fetus; D022781:Hepatocytes / Q000648:ultrastructure; D006801:Humans; D015160:Hydrops Fetalis / Q000473:pathology*; D007728:Kupffer Cells / Q000648:ultrastructure; D016464:Lysosomal Storage Diseases / Q000201:enzymology / Q000235:genetics / Q000473:pathology*; D046529:Microscopy, Electron, Transmission; D009135:Muscular Diseases / Q000151:congenital* / Q000473:pathology; D032383:Myocytes, Cardiac / Q000648:ultrastructure; D011247:Pregnancy; D014617:Vacuoles / Q000473:pathology*