title: Diagnostic pitfall in antenatal manifestations of CPT II deficiency.
abstract: Carnitine palmitoyltransferase II (CPT2) deficiency is a rare inborn error of mitochondrial fatty acid metabolism associated with various phenotypes. Whereas most patients present with postnatal signs of energetic failure affecting muscle and liver, a small subset of patients presents antenatal malformations including brain dysgenesis and neuronal migration defects. Here, we report recurrence of severe cerebral dysgenesis with Dandy-Walker malformation in three successive pregnancies and review previously reported antenatal cases. Interestingly, we also report that acylcarnitines profile, tested retrospectively on the amniotic fluid of last pregnancy, was not sensitive enough to allow reliable prenatal diagnosis of CPT2 deficiency. Finally, because fetuses affected by severe cerebral malformations are frequently aborted, CPT2 deficiency may be underestimated and fatty acid oxidation disorders should be considered when faced with a fetus with Dandy-Walker anomaly or another brain dysgenesis.
authors.affiliation: Biochemical Genetics Lab, Department of Human Genetics, CHU Sart-Tilman, University of Liège, Liege, Belgium.
authors.forename: F
authors.initials: F
authors.lastname: Boemer
authors.affiliation: Biochemical Genetics Lab, Department of Human Genetics, CHU Sart-Tilman, University of Liège, Liege, Belgium.
authors.forename: M
authors.initials: M
authors.lastname: Deberg
authors.affiliation: Biochemical Genetics Lab, Department of Human Genetics, CHU Sart-Tilman, University of Liège, Liege, Belgium.
authors.forename: R
authors.initials: R
authors.lastname: Schoos
authors.affiliation: Molecular Genetics Lab, Department of Human Genetics, CHU Sart-Tilman, University of Liège, Liege, Belgium.
authors.forename: J-H
authors.initials: JH
authors.lastname: Caberg
authors.affiliation: Clinical Genetics, Department of Human Genetics, CHU Sart-Tilman, University of Liège, Liege, Belgium.
authors.forename: S
authors.initials: S
authors.lastname: Gaillez
authors.affiliation: Department of Pathology, Institut de Pathologie et de Génétique, Charleroi, Belgium.
authors.forename: C
authors.initials: C
authors.lastname: Dugauquier
authors.affiliation: Department of Pathology, CHU Sart-Tilman, University of Liège, Liege, Belgium.
authors.forename: K
authors.initials: K
authors.lastname: Delbecque
authors.affiliation: Department of Pediatrics, Clinique Saint-Vincent, CHC, Liège, Belgium.
authors.forename: A
authors.initials: A
authors.lastname: François
authors.affiliation: Department of Pediatrics, Clinique Saint-Vincent, CHC, Liège, Belgium.
authors.forename: P
authors.initials: P
authors.lastname: Maton
authors.affiliation: Department of Pediatrics, Clinique Saint-Vincent, CHC, Liège, Belgium.
authors.forename: N
authors.initials: N
authors.lastname: Demonceau
authors.affiliation: Department of Gynecology-Obstetrics, Clinique Saint-Vincent, CHC, Liège, Belgium.
authors.forename: G
authors.initials: G
authors.lastname: Senterre
authors.affiliation: Laboratory Genetic Metabolic Diseases, Academic Medical Center, Amsterdam, The Netherlands.
authors.forename: S
authors.initials: S
authors.lastname: Ferdinandusse
authors.affiliation: Clinical Genetics, Department of Human Genetics, CHU Sart-Tilman, University of Liège, Liege, Belgium.|Department of Pediatrics, Clinique Saint-Vincent, CHC, Liège, Belgium.|Metabolic Unit, Department of Human Genetics, CHU Sart-Tilman, University of Liège, Liege, Belgium.
authors.forename: F-G
authors.initials: FG
authors.lastname: Debray
mesh_terms: D000328:Adult; D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency*; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis*; D011247:Pregnancy
chemical_list: D002334:Carnitine O-Palmitoyltransferase
keywords: Dandy-Walker malformation; acylcarnitines; carnitine palmitoyltransferase type 2 deficiency; cerebral dysgenesis; inborn error of metabolism; prenatal diagnosis