Fetal akinesia deformation sequence and neuroaxonal dystrophy without PLA2G6 mutation

Dinesh Rakheja, Naseem Uddin, Midori Mitui, Sandy Cope-Yokoyama, Robert N Hogan, Dennis K Burns

Research output: Contribution to journalArticle

3 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)492-496
Number of pages5
JournalPediatric and Developmental Pathology
Volume13
Issue number6
DOIs
StatePublished - Nov 1 2010

Keywords

  • Alpha-fetoprotein
  • Fetal akinesia deformation sequence
  • Fetal neuroaxonal dystrophy
  • PLA2G6

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Pathology and Forensic Medicine

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