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

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.

SUBMITTER: van Rij MC 

PROVIDER: S-EPMC4831400 | biostudies-literature | 2016 Apr

REPOSITORIES: biostudies-literature

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

van Rij Maartje C MC   Jansen Fenna A R FA   Hellebrekers Debby M E I DM   Onkenhout W W   Smeets Hubert J M HJ   Hendrickx Alexandra T AT   Gottschalk Ralph W H RW   Steggerda Sylke J SJ   Peeters-Scholte Cacha M P C D CM   Haak Monique C MC   Hilhorst-Hofstee Yvonne Y  

Clinical case reports 20160316 4

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. ...[more]

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