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

Author(s):
Rij, M.C. van; Jansen, F.A.R.; Hellebrekers, D.M.E.I.; Onkenhout, W.; Smeets, H.J.M.; Hendrickx, A.T.; Gottschalk, R.W.H.; Steggerda, S.J.; Peeters-Scholte, C.M.P.C.D.; Haak, M.C.; Hilhorst-Hofstee, Y.
Published
2016
Publication type
Article / Letter to editor

Abstract

A primigravid woman with

polyhydramnios and preterm contractions presented at 25 weeks pregnancy. Fetal

ultrasound revealed periventricular cysts and cerebral hypoplasia. The neonate

was born in a poor condition, with increased serum lactate and pyruvate levels. Whole exome sequencing detected FBXL4 gene mutations causing recessive mitochondrial myopathy.

Date issued
2016
Language
English
Is part of
Clinical Case Reports
hdl
1887/115406
doi
10.1002/ccr3.511