Prenatal sonographic description of fetuses affected by pyruvate dehydrogenase or pyruvate carboxylase deficiency

Prenatal Diagnosis
Charles EgloffOlivier Picone

Abstract

Pyruvate dehydrogenase deficiency (PDHD) and pyruvate carboxylase deficiency (PCD) are diseases with severe neonatal forms, and their low prevalence makes them difficult to diagnose during pregnancy. Our objective was to describe prenatal ultrasound features that may be suggestive of these diagnoses. We analyzed 3 cases from our institution and reviewed 12 published cases of PDHD and 6 cases of PCD, recording all of the ultrasound signs, as well as magnetic resonance findings when available. Because of the small number of cases of PCD, we also included postnatal signs that could have been observed during imaging during pregnancy, for a total of 11 cases of PCD. We conclude that PDHD can be suggested in the presence of ventriculomegaly or paraventricular cysts, associated with an abnormality of the cerebral parenchyma such as abnormal gyration or involvement of the corpus callosum. Pyruvate carboxylase deficiency can be suggested in the presence of ventriculomegaly, frontal horn impairment associated with subependymal, and paraventricular cysts. When confronted to the ultrasound abnormalities we described, and after eliminating the most frequent etiologies, a metabolic deficiency should be considered. Furthermore, the hereditary...Continue Reading

References

Jan 1, 1986·Journal of Inherited Metabolic Disease·M A PollockS Gray
Jul 1, 1995·Brain & Development·M PinedaM O Rolland
Jun 1, 1994·Prenatal Diagnosis·R M Brown, G K Brown
Nov 1, 2005·Molecular Genetics and Metabolism·Michèle BrivetA Legrand
Dec 6, 2005·Molecular Genetics and Metabolism·Manuel SchiffNathalie Guffon
Jan 17, 2008·Pediatric Radiology·João P Soares-FernandesLara M Leijser
Jul 5, 2008·Expert Review of Molecular Diagnostics·Gabriele SicilianoLuigi Murri
Jul 5, 2011·Pediatric Neurology·Nicholas Ah MewAdeline Vanderver
Sep 8, 2011·Developmental Medicine and Child Neurology·Ruchi SharmaSantosh R Mordekar
Aug 14, 2012·Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie·A BrassierP de Lonlay
Feb 13, 2016·Journal of Neuropathology and Experimental Neurology·Nathalie PirotAnnie Laquerrière
Mar 31, 2016·Pediatric Radiology·Niranjana NatarajanTeresa Chapman

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Citations

Nov 3, 2020·Radiographics : a Review Publication of the Radiological Society of North America, Inc·Fabrício Guimarães GonçalvesArastoo Vossough

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