Fetal Brain MRI Abnormalities in Pyruvate Dehydrogenase Complex Deficiency.

Humans Female Pyruvate Dehydrogenase Complex Deficiency Disease / diagnostic imaging Magnetic Resonance Imaging Pregnancy Brain / diagnostic imaging Retrospective Studies Male Infant, Newborn Prenatal Diagnosis Fetus / diagnostic imaging Adult

Journal

Neurology
ISSN: 1526-632X
Titre abrégé: Neurology
Pays: United States
ID NLM: 0401060

Informations de publication

Date de publication:
27 Aug 2024
Historique:
medline: 5 8 2024
pubmed: 5 8 2024
entrez: 5 8 2024
Statut: ppublish

Résumé

Pyruvate dehydrogenase complex deficiency (PDCD) is a disorder of mitochondrial metabolism that is caused by pathogenic variants in multiple genes, including Fetuses with a diagnosis of PDCD related to a genetic etiology that had undergone fetal MRI were included. Fetuses were identified retrospectively from local databases of 4 fetal diagnostic clinics within tertiary pediatric health care centers. Electronic medical records were reviewed retrospectively: demographics, maternal and pregnancy history, fetal outcomes, and neonatal outcomes (if available) were reviewed and recorded. Fetal and neonatal imaging reports were reviewed; source fetal and neonatal brain MRI scans were reviewed by a single pediatric neuroradiologist (J.W.S.) for consistency. Genetic testing strategies and results including variant type, zygosity, inheritance pattern, and pathogenicity were recorded. Deidentified data were combined and reported descriptively. A total of 10 fetuses with a diagnosis of PDCD were included. 8 fetuses had corpus callosum dysgenesis, 6 had an abnormal gyration pattern, 10 had reduced brain volumes, and 9 had cystic lesions. 1 fetus had intraventricular hemorrhages. 1 fetus had a midbrain malformation with aqueductal stenosis and severe hydrocephalus. 6 fetuses imaged in the second trimester had cystic lesions involving the ganglionic eminences (GEs) while GE cysts were not present in the 4 fetuses imaged in the third trimester. Fetuses with PDCD have similar brain MRI findings to neonates described in the literature, although some of these findings are subtle early in pregnancy. Additional features, such as cystic lesions of the GEs, are noted in the second trimester in fetuses with PDCD. These may represent an early diagnostic marker of PDCD, although more data are needed to validate this association. Early diagnosis of PDCD using fetal MRI may inform genetic counseling, pregnancy decision making, and neonatal care planning.

Sections du résumé

BACKGROUND AND OBJECTIVES OBJECTIVE
Pyruvate dehydrogenase complex deficiency (PDCD) is a disorder of mitochondrial metabolism that is caused by pathogenic variants in multiple genes, including
METHODS METHODS
Fetuses with a diagnosis of PDCD related to a genetic etiology that had undergone fetal MRI were included. Fetuses were identified retrospectively from local databases of 4 fetal diagnostic clinics within tertiary pediatric health care centers. Electronic medical records were reviewed retrospectively: demographics, maternal and pregnancy history, fetal outcomes, and neonatal outcomes (if available) were reviewed and recorded. Fetal and neonatal imaging reports were reviewed; source fetal and neonatal brain MRI scans were reviewed by a single pediatric neuroradiologist (J.W.S.) for consistency. Genetic testing strategies and results including variant type, zygosity, inheritance pattern, and pathogenicity were recorded. Deidentified data were combined and reported descriptively.
RESULTS RESULTS
A total of 10 fetuses with a diagnosis of PDCD were included. 8 fetuses had corpus callosum dysgenesis, 6 had an abnormal gyration pattern, 10 had reduced brain volumes, and 9 had cystic lesions. 1 fetus had intraventricular hemorrhages. 1 fetus had a midbrain malformation with aqueductal stenosis and severe hydrocephalus. 6 fetuses imaged in the second trimester had cystic lesions involving the ganglionic eminences (GEs) while GE cysts were not present in the 4 fetuses imaged in the third trimester.
DISCUSSION CONCLUSIONS
Fetuses with PDCD have similar brain MRI findings to neonates described in the literature, although some of these findings are subtle early in pregnancy. Additional features, such as cystic lesions of the GEs, are noted in the second trimester in fetuses with PDCD. These may represent an early diagnostic marker of PDCD, although more data are needed to validate this association. Early diagnosis of PDCD using fetal MRI may inform genetic counseling, pregnancy decision making, and neonatal care planning.

Identifiants

DOI: 10.1212/WNL.0000000000209728 PMID: 39102617
pubmed: 39102617
doi: 10.1212/WNL.0000000000209728
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

e209728

Auteurs

Olivier Fortin (O)

From the Zickler Family Prenatal Pediatrics Institute (O.F., K. Christoffel, K. Cilli, J.L.F.), Department of Radiology (J.W.S.), Rare Disease Institute (J.L.F.), and Center for Genetic Medicine Research (J.L.F.), Children's National Hospital, Washington, DC; Departments of Neurology and Rehabilitation Medicine (K. Christoffel), Radiology (J.W.S.), and Pediatrics (J.L.F.), George Washington University School of Medicine and Health Sciences, Washington, DC; Departments of Pediatrics (A.B.S.) and Neurology (A.B.S.), University of Texas Southwestern Medical Center, Dallas; Division of Neurology (C.V.), Cincinnati Children's Hospital Medical Center; Department of Pediatrics (C.V.), University of Cincinnati College of Medicine, OH; Department of Radiology (C.A.), Boston Children's Hospital, MA; Division of Human Genetics (R.D.G.), Children's Hospital of Philadelphia; and Department of Pediatrics (R.D.G.), University of Pennsylvania Perelman School of Medicine, Philadelphia.
ORCID: 0000-0002-9349-0592

Kelsey Christoffel (K)

From the Zickler Family Prenatal Pediatrics Institute (O.F., K. Christoffel, K. Cilli, J.L.F.), Department of Radiology (J.W.S.), Rare Disease Institute (J.L.F.), and Center for Genetic Medicine Research (J.L.F.), Children's National Hospital, Washington, DC; Departments of Neurology and Rehabilitation Medicine (K. Christoffel), Radiology (J.W.S.), and Pediatrics (J.L.F.), George Washington University School of Medicine and Health Sciences, Washington, DC; Departments of Pediatrics (A.B.S.) and Neurology (A.B.S.), University of Texas Southwestern Medical Center, Dallas; Division of Neurology (C.V.), Cincinnati Children's Hospital Medical Center; Department of Pediatrics (C.V.), University of Cincinnati College of Medicine, OH; Department of Radiology (C.A.), Boston Children's Hospital, MA; Division of Human Genetics (R.D.G.), Children's Hospital of Philadelphia; and Department of Pediatrics (R.D.G.), University of Pennsylvania Perelman School of Medicine, Philadelphia.
ORCID: 0000-0001-6719-4135

Abdullah B Shoaib (AB)

From the Zickler Family Prenatal Pediatrics Institute (O.F., K. Christoffel, K. Cilli, J.L.F.), Department of Radiology (J.W.S.), Rare Disease Institute (J.L.F.), and Center for Genetic Medicine Research (J.L.F.), Children's National Hospital, Washington, DC; Departments of Neurology and Rehabilitation Medicine (K. Christoffel), Radiology (J.W.S.), and Pediatrics (J.L.F.), George Washington University School of Medicine and Health Sciences, Washington, DC; Departments of Pediatrics (A.B.S.) and Neurology (A.B.S.), University of Texas Southwestern Medical Center, Dallas; Division of Neurology (C.V.), Cincinnati Children's Hospital Medical Center; Department of Pediatrics (C.V.), University of Cincinnati College of Medicine, OH; Department of Radiology (C.A.), Boston Children's Hospital, MA; Division of Human Genetics (R.D.G.), Children's Hospital of Philadelphia; and Department of Pediatrics (R.D.G.), University of Pennsylvania Perelman School of Medicine, Philadelphia.
ORCID: 0000-0003-3461-8784

Charu Venkatesan (C)

From the Zickler Family Prenatal Pediatrics Institute (O.F., K. Christoffel, K. Cilli, J.L.F.), Department of Radiology (J.W.S.), Rare Disease Institute (J.L.F.), and Center for Genetic Medicine Research (J.L.F.), Children's National Hospital, Washington, DC; Departments of Neurology and Rehabilitation Medicine (K. Christoffel), Radiology (J.W.S.), and Pediatrics (J.L.F.), George Washington University School of Medicine and Health Sciences, Washington, DC; Departments of Pediatrics (A.B.S.) and Neurology (A.B.S.), University of Texas Southwestern Medical Center, Dallas; Division of Neurology (C.V.), Cincinnati Children's Hospital Medical Center; Department of Pediatrics (C.V.), University of Cincinnati College of Medicine, OH; Department of Radiology (C.A.), Boston Children's Hospital, MA; Division of Human Genetics (R.D.G.), Children's Hospital of Philadelphia; and Department of Pediatrics (R.D.G.), University of Pennsylvania Perelman School of Medicine, Philadelphia.

Kate Cilli (K)

From the Zickler Family Prenatal Pediatrics Institute (O.F., K. Christoffel, K. Cilli, J.L.F.), Department of Radiology (J.W.S.), Rare Disease Institute (J.L.F.), and Center for Genetic Medicine Research (J.L.F.), Children's National Hospital, Washington, DC; Departments of Neurology and Rehabilitation Medicine (K. Christoffel), Radiology (J.W.S.), and Pediatrics (J.L.F.), George Washington University School of Medicine and Health Sciences, Washington, DC; Departments of Pediatrics (A.B.S.) and Neurology (A.B.S.), University of Texas Southwestern Medical Center, Dallas; Division of Neurology (C.V.), Cincinnati Children's Hospital Medical Center; Department of Pediatrics (C.V.), University of Cincinnati College of Medicine, OH; Department of Radiology (C.A.), Boston Children's Hospital, MA; Division of Human Genetics (R.D.G.), Children's Hospital of Philadelphia; and Department of Pediatrics (R.D.G.), University of Pennsylvania Perelman School of Medicine, Philadelphia.
ORCID: 0000-0002-0983-5384

Jason W Schroeder (JW)

From the Zickler Family Prenatal Pediatrics Institute (O.F., K. Christoffel, K. Cilli, J.L.F.), Department of Radiology (J.W.S.), Rare Disease Institute (J.L.F.), and Center for Genetic Medicine Research (J.L.F.), Children's National Hospital, Washington, DC; Departments of Neurology and Rehabilitation Medicine (K. Christoffel), Radiology (J.W.S.), and Pediatrics (J.L.F.), George Washington University School of Medicine and Health Sciences, Washington, DC; Departments of Pediatrics (A.B.S.) and Neurology (A.B.S.), University of Texas Southwestern Medical Center, Dallas; Division of Neurology (C.V.), Cincinnati Children's Hospital Medical Center; Department of Pediatrics (C.V.), University of Cincinnati College of Medicine, OH; Department of Radiology (C.A.), Boston Children's Hospital, MA; Division of Human Genetics (R.D.G.), Children's Hospital of Philadelphia; and Department of Pediatrics (R.D.G.), University of Pennsylvania Perelman School of Medicine, Philadelphia.
ORCID: 0009-0005-2534-9270

Cesar Alves (C)

From the Zickler Family Prenatal Pediatrics Institute (O.F., K. Christoffel, K. Cilli, J.L.F.), Department of Radiology (J.W.S.), Rare Disease Institute (J.L.F.), and Center for Genetic Medicine Research (J.L.F.), Children's National Hospital, Washington, DC; Departments of Neurology and Rehabilitation Medicine (K. Christoffel), Radiology (J.W.S.), and Pediatrics (J.L.F.), George Washington University School of Medicine and Health Sciences, Washington, DC; Departments of Pediatrics (A.B.S.) and Neurology (A.B.S.), University of Texas Southwestern Medical Center, Dallas; Division of Neurology (C.V.), Cincinnati Children's Hospital Medical Center; Department of Pediatrics (C.V.), University of Cincinnati College of Medicine, OH; Department of Radiology (C.A.), Boston Children's Hospital, MA; Division of Human Genetics (R.D.G.), Children's Hospital of Philadelphia; and Department of Pediatrics (R.D.G.), University of Pennsylvania Perelman School of Medicine, Philadelphia.
ORCID: 0000-0001-5877-9086

Rebecca D Ganetzky (RD)

From the Zickler Family Prenatal Pediatrics Institute (O.F., K. Christoffel, K. Cilli, J.L.F.), Department of Radiology (J.W.S.), Rare Disease Institute (J.L.F.), and Center for Genetic Medicine Research (J.L.F.), Children's National Hospital, Washington, DC; Departments of Neurology and Rehabilitation Medicine (K. Christoffel), Radiology (J.W.S.), and Pediatrics (J.L.F.), George Washington University School of Medicine and Health Sciences, Washington, DC; Departments of Pediatrics (A.B.S.) and Neurology (A.B.S.), University of Texas Southwestern Medical Center, Dallas; Division of Neurology (C.V.), Cincinnati Children's Hospital Medical Center; Department of Pediatrics (C.V.), University of Cincinnati College of Medicine, OH; Department of Radiology (C.A.), Boston Children's Hospital, MA; Division of Human Genetics (R.D.G.), Children's Hospital of Philadelphia; and Department of Pediatrics (R.D.G.), University of Pennsylvania Perelman School of Medicine, Philadelphia.
ORCID: 0000-0001-6238-8109

Jamie L Fraser (JL)

From the Zickler Family Prenatal Pediatrics Institute (O.F., K. Christoffel, K. Cilli, J.L.F.), Department of Radiology (J.W.S.), Rare Disease Institute (J.L.F.), and Center for Genetic Medicine Research (J.L.F.), Children's National Hospital, Washington, DC; Departments of Neurology and Rehabilitation Medicine (K. Christoffel), Radiology (J.W.S.), and Pediatrics (J.L.F.), George Washington University School of Medicine and Health Sciences, Washington, DC; Departments of Pediatrics (A.B.S.) and Neurology (A.B.S.), University of Texas Southwestern Medical Center, Dallas; Division of Neurology (C.V.), Cincinnati Children's Hospital Medical Center; Department of Pediatrics (C.V.), University of Cincinnati College of Medicine, OH; Department of Radiology (C.A.), Boston Children's Hospital, MA; Division of Human Genetics (R.D.G.), Children's Hospital of Philadelphia; and Department of Pediatrics (R.D.G.), University of Pennsylvania Perelman School of Medicine, Philadelphia.
ORCID: 0000-0002-7794-8903

Articles similaires

[Redispensing of expensive oral anticancer medicines: a practical application].

Lisanne N van Merendonk, Kübra Akgöl, Bastiaan Nuijen
1.00
Humans Antineoplastic Agents Administration, Oral Drug Costs Counterfeit Drugs

Smoking Cessation and Incident Cardiovascular Disease.

Jun Hwan Cho, Seung Yong Shin, Hoseob Kim et al.
1.00
Humans Male Smoking Cessation Cardiovascular Diseases Female

Evaluation of Low-Value Services Across Major Medicare Advantage Insurers and Traditional Medicare.

Ciara Duggan, Adam L Beckman, Ishani Ganguli et al.
1.00
Humans United States Aged Cross-Sectional Studies Medicare Part C

Effectiveness of Virtual Yoga for Chronic Low Back Pain: A Randomized Clinical Trial.

Hallie Tankha, Devyn Gaskins, Amanda Shallcross et al.
1.00
Humans Yoga Low Back Pain Female Male

Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Fetal Brain MRI Abnormalities in Pyruvate...
questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Maladies métaboliques › Maladies mitochondriales › Déficit en complexe pyruvate-déshydrogénase › Fetal Brain MRI Abnormalities in Pyruvate...
questionsmedicales.fr › Diagnostic › Techniques et procédures diagnostiques › Imagerie diagnostique › Tomographie › Imagerie par résonance magnétique › Fetal Brain MRI Abnormalities in Pyruvate...
questionsmedicales.fr › Phénomènes physiologiques des appareils urinaire et reproducteur › Phénomènes physiologiques de la reproduction › Reproduction › Grossesse › Fetal Brain MRI Abnormalities in Pyruvate...
questionsmedicales.fr › Système nerveux › Système nerveux central › Encéphale › Fetal Brain MRI Abnormalities in Pyruvate...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Caractéristiques des études épidémiologiques › Études épidémiologiques › Études de cohortes › Études rétrospectives › Fetal Brain MRI Abnormalities in Pyruvate...
questionsmedicales.fr › Personnes › Tranches d'âge › Nourrisson › Nouveau-né › Fetal Brain MRI Abnormalities in Pyruvate...
questionsmedicales.fr › Diagnostic › Techniques et procédures diagnostiques › Techniques de diagnostic gynécologique et obstétrique › Diagnostic prénatal › Fetal Brain MRI Abnormalities in Pyruvate...
questionsmedicales.fr › Structures de l'embryon › Foetus › Fetal Brain MRI Abnormalities in Pyruvate...
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Fetal Brain MRI Abnormalities in Pyruvate...