Open AccessPolyhydramnios and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations in the FBXL 4 gene
Author(s) -
Rij Maartje C.,
Jansen Fenna A. R.,
Hellebrekers Debby M. E. I.,
Onkenhout W.,
Smeets Hubert J. M.,
Hendrickx Alexandra T.,
Gottschalk Ralph W. H.,
Steggerda Sylke J.,
PeetersScholte Cacha M. P. C. D.,
Haak Monique C.,
HilhorstHofstee Yvonne
Publication year - 2016
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.511
Subject(s) - medicine , polyhydramnios , mitochondrial encephalomyopathies , cerebellar vermis , hypoplasia , atrophy , mitochondrial encephalomyopathy , anatomy , mitochondrial myopathy , hyperostosis , pathology , mutation , mitochondrial dna , gene , fetus , cerebellum , genetics , biology , pregnancy
Key Clinical Message Severe recessive mitochondrial myopathy caused by FBXL 4 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.