Polyhydramnios and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations in the FBXL4 gene.
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.
Department of Clinical Genetics Leiden University Medical Centre Leiden Netherlands.
Maartje C
MC
van Rij
Department of Obstetrics Leiden University Medical Centre Leiden Netherlands.
Fenna A R
FA
Jansen
Department of Clinical Genetics Maastricht University Medical Centre Leiden Netherlands.
Debby M E I
DM
Hellebrekers
Department of Metabolic Testing Leiden University Medical Centre Leiden Netherlands.
W
W
Onkenhout
Department of Clinical Genetics Maastricht University Medical Centre Leiden Netherlands.
Hubert J M
HJ
Smeets
Department of Clinical Genetics Maastricht University Medical Centre Leiden Netherlands.
Alexandra T
AT
Hendrickx
Department of Clinical Genetics Maastricht University Medical Centre Leiden Netherlands.
Ralph W H
RW
Gottschalk
Department of Neonatology Leiden University Medical Centre Leiden Netherlands.
Sylke J
SJ
Steggerda
Department of Neurology Leiden University Medical Centre Leiden Netherlands.
Cacha M P C D
CM
Peeters-Scholte
Department of Obstetrics Leiden University Medical Centre Leiden Netherlands.
Monique C
MC
Haak
Department of Clinical Genetics Leiden University Medical Centre Leiden Netherlands.
Yvonne
Y
Hilhorst-Hofstee
Cerebellar atrophy; FBXL4 gene; encephalomyopathy; lactate; mitochondrial encephalopathy; polyhydramnios; pyruvate