Send to

Choose Destination
See comment in PubMed Commons below
Pediatr Dev Pathol. 2010 Nov-Dec;13(6):492-6. doi: 10.2350/10-01-0782-CR.1. Epub 2010 Mar 17.

Fetal akinesia deformation sequence and neuroaxonal dystrophy without PLA2G6 mutation.

Author information

Department of Pathology, Children's Medical Center, Dallas, TX, USA.


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.

[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons


    Supplemental Content

    Full text links

    Icon for Atypon
    Loading ...
    Support Center