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Case Reports
. 2016 Mar 16;4(4):425-8.
doi: 10.1002/ccr3.511. eCollection 2016 Apr.

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

Maartje C van Rij  1 , Fenna A R Jansen  2 , Debby M E I Hellebrekers  3 , W Onkenhout  4 , Hubert J M Smeets  3 , Alexandra T Hendrickx  3 , Ralph W H Gottschalk  3 , Sylke J Steggerda  5 , Cacha M P C D Peeters-Scholte  6 , Monique C Haak  2 , Yvonne Hilhorst-Hofstee  1
Affiliations
Case Reports

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

Maartje C van Rij et al. Clin Case Rep. .

Abstract

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.

Keywords: Cerebellar atrophy; FBXL4 gene; encephalomyopathy; lactate; mitochondrial encephalopathy; polyhydramnios; pyruvate.

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Figures

Figure 1
Figure 1
(A) Fetal cerebral ultrasound at GA 25 + 5 showed cerebellar hypoplasia (*) and borderline dilatation of the ventricles. In retrospect, the outlines of some of the periventricular cysts are also discernible (see arrows). (B) shows the postmortem facial features. Note the prominent eyebrows and the triangular face with pointed chin. The bruises around the nose and philtrum, and the asymmetry of the nostrils are the effect of ventilation.
See this image and copyright information in PMC

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