Polyhydramnios and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations in the FBXL4 gene

Maartje C. van Rij*, Fenna A. R. Jansen, Debby M. E. I. Hellebrekers, W. Onkenhout, Bert Smeets, Alexandra T. Hendrickx, Ralph W. H. Gottschalk, Sylke J. Steggerda, Cacha M. P. C. D. Peeters-Scholte, Monique C. Haak, Yvonne Hilhorst-Hofstee

*Corresponding author for this work

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Key Clinical Message Severe recessive mitochondrial myopathy caused by FBXL4 gene mutations may present prenatally with polyhydramnios and cerebellar hypoplasia. Characteristic dysmorphic features are: high and arched eyebrows, triangular face, a slight upslant of palpebral fissures, and a prominent pointed chin. Metabolic investigations invariably show increased serum lactate and pyruvate levels.
Original languageEnglish
Pages (from-to)425-428
JournalClinical Case Reports
Issue number4
Publication statusPublished - Apr 2016


  • Cerebellar atrophy
  • encephalomyopathy
  • FBXL4 gene
  • lactate
  • mitochondrial encephalopathy
  • polyhydramnios
  • pyruvate

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