Abstract
We present autopsy findings of a stillborn female infant at 20 to 21 weeks' gestation with neuroaxonal dystrophy. External examination showed features of fetal akinesia deformation sequence. Internal examination showed hypoplasia of the cerebellum, corpus callosum, and optic nerves, as well as nuclear cataracts. Light and electron microscopic examinations showed widespread axonal spheroids in the central and peripheral nervous systems. Gene sequencing failed to reveal PLA2G6 mutations, indicating that fetal neuroaxonal dystrophy presenting as fetal akinesia deformation sequence is genetically distinct from infantile neuroaxonal dystrophy and related disorders. In addition, placental examination showed α-fetoprotein-positive, eosinophilic, globular inclusions in the cytoplasm of a few villous macrophages. The significance of this novel histologic finding is unclear.
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
