Fetal Brain MRI Findings in Myotonic Dystrophy and Considerations for Prenatal Genetic Testing.

Journal

Neurology. Genetics
ISSN: 2376-7839
Titre abrégé: Neurol Genet
Pays: United States
ID NLM: 101671068

Informations de publication

Date de publication:
Dec 2024
Historique:
received: 01 03 2024
accepted: 08 07 2024
medline: 24 10 2024
pubmed: 24 10 2024
entrez: 24 10 2024
Statut: epublish

Résumé

Congenital myotonic dystrophy type 1 (DM1) is a rare congenital neuromuscular disorder associated with high morbidity and potential early mortality requiring lifelong symptomatic management. Prenatal presentations of DM1 have been associated with nonspecific ultrasound findings such as clubbed foot, polyhydramnios, ventriculomegaly, and decreased fetal movement, but many cases of DM1 have no ultrasound anomalies. We sought to compare the clinical course and prenatal imaging findings in two cases of DM1 using retrospective chart review. This report demonstrates potential expansion of the prenatal phenotype of DM1 including fetal SVT and frontal bossing. Both cases shared unique prenatal imaging features of lateral ventricle dilation involving the anterior bodies and frontal horns on fetal MRI. Because congenital DM1 is most often maternally inherited, attention to maternal symptoms, physical examination, and family history can be helpful in recognizing cases. Molecular diagnosis of DM1 requires specialized testing of the 3' untranslated region of the DMPK gene, and DM1 will not be detected by current standard prenatal genetic testing with microarray, karyotype, or exome sequencing.

Sections du résumé

Background UNASSIGNED
Congenital myotonic dystrophy type 1 (DM1) is a rare congenital neuromuscular disorder associated with high morbidity and potential early mortality requiring lifelong symptomatic management. Prenatal presentations of DM1 have been associated with nonspecific ultrasound findings such as clubbed foot, polyhydramnios, ventriculomegaly, and decreased fetal movement, but many cases of DM1 have no ultrasound anomalies.
Methods UNASSIGNED
We sought to compare the clinical course and prenatal imaging findings in two cases of DM1 using retrospective chart review.
Results UNASSIGNED
This report demonstrates potential expansion of the prenatal phenotype of DM1 including fetal SVT and frontal bossing. Both cases shared unique prenatal imaging features of lateral ventricle dilation involving the anterior bodies and frontal horns on fetal MRI.
Discussion UNASSIGNED
Because congenital DM1 is most often maternally inherited, attention to maternal symptoms, physical examination, and family history can be helpful in recognizing cases. Molecular diagnosis of DM1 requires specialized testing of the 3' untranslated region of the DMPK gene, and DM1 will not be detected by current standard prenatal genetic testing with microarray, karyotype, or exome sequencing.

Identifiants

DOI: 10.1212/NXG.0000000000200171 PMID: 39444647 PMC: PMC11498903
pubmed: 39444647
doi: 10.1212/NXG.0000000000200171
pii: NXG-2024-100058
pmc: PMC11498903
doi:

Types de publication

Journal Article

Langues

eng

Pagination

e200171

Informations de copyright

Copyright © 2024 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.

Déclaration de conflit d'intérêts

The authors report no relevant disclosures. Go to Neurology.org/NG for full disclosures.

Auteurs

Matthew A Shear (MA)

From the Department of Obstetrics, Gynecology, and Reproductive Sciences (M.A.S., M.-P.T., S.C., T.N.S.); Division of Medical Genetics (M.A.S., M.P.-P., J.T.S.), Department of Pediatrics, University of California, San Francisco; Division of Genetic Medicine (M.P.-P.), Department of Pediatrics, University of Washington, Seattle; Fetal Treatment Center (M.A.S., S.C., T.N.S.), Division of Maternal-Fetal Medicine and Reproductive Genetics; Center for Maternal Fetal Precision Medicine (M.A.S., D.G.); Departments of Neurology and Pediatrics (O.A.G., D.G.); and Department of Radiology and Biomedical Imaging (O.A.G.), University of California, San Francisco.
ORCID: 0000-0003-4134-5665

Monica Penon-Portmann (M)

From the Department of Obstetrics, Gynecology, and Reproductive Sciences (M.A.S., M.-P.T., S.C., T.N.S.); Division of Medical Genetics (M.A.S., M.P.-P., J.T.S.), Department of Pediatrics, University of California, San Francisco; Division of Genetic Medicine (M.P.-P.), Department of Pediatrics, University of Washington, Seattle; Fetal Treatment Center (M.A.S., S.C., T.N.S.), Division of Maternal-Fetal Medicine and Reproductive Genetics; Center for Maternal Fetal Precision Medicine (M.A.S., D.G.); Departments of Neurology and Pediatrics (O.A.G., D.G.); and Department of Radiology and Biomedical Imaging (O.A.G.), University of California, San Francisco.

Joseph T Shieh (JT)

From the Department of Obstetrics, Gynecology, and Reproductive Sciences (M.A.S., M.-P.T., S.C., T.N.S.); Division of Medical Genetics (M.A.S., M.P.-P., J.T.S.), Department of Pediatrics, University of California, San Francisco; Division of Genetic Medicine (M.P.-P.), Department of Pediatrics, University of Washington, Seattle; Fetal Treatment Center (M.A.S., S.C., T.N.S.), Division of Maternal-Fetal Medicine and Reproductive Genetics; Center for Maternal Fetal Precision Medicine (M.A.S., D.G.); Departments of Neurology and Pediatrics (O.A.G., D.G.); and Department of Radiology and Biomedical Imaging (O.A.G.), University of California, San Francisco.
ORCID: 0000-0003-0746-6084

Orit A Glenn (OA)

From the Department of Obstetrics, Gynecology, and Reproductive Sciences (M.A.S., M.-P.T., S.C., T.N.S.); Division of Medical Genetics (M.A.S., M.P.-P., J.T.S.), Department of Pediatrics, University of California, San Francisco; Division of Genetic Medicine (M.P.-P.), Department of Pediatrics, University of Washington, Seattle; Fetal Treatment Center (M.A.S., S.C., T.N.S.), Division of Maternal-Fetal Medicine and Reproductive Genetics; Center for Maternal Fetal Precision Medicine (M.A.S., D.G.); Departments of Neurology and Pediatrics (O.A.G., D.G.); and Department of Radiology and Biomedical Imaging (O.A.G.), University of California, San Francisco.
ORCID: 0000-0002-4642-1252

Mari-Paule Thiet (MP)

From the Department of Obstetrics, Gynecology, and Reproductive Sciences (M.A.S., M.-P.T., S.C., T.N.S.); Division of Medical Genetics (M.A.S., M.P.-P., J.T.S.), Department of Pediatrics, University of California, San Francisco; Division of Genetic Medicine (M.P.-P.), Department of Pediatrics, University of Washington, Seattle; Fetal Treatment Center (M.A.S., S.C., T.N.S.), Division of Maternal-Fetal Medicine and Reproductive Genetics; Center for Maternal Fetal Precision Medicine (M.A.S., D.G.); Departments of Neurology and Pediatrics (O.A.G., D.G.); and Department of Radiology and Biomedical Imaging (O.A.G.), University of California, San Francisco.

Shilpa Chetty (S)

From the Department of Obstetrics, Gynecology, and Reproductive Sciences (M.A.S., M.-P.T., S.C., T.N.S.); Division of Medical Genetics (M.A.S., M.P.-P., J.T.S.), Department of Pediatrics, University of California, San Francisco; Division of Genetic Medicine (M.P.-P.), Department of Pediatrics, University of Washington, Seattle; Fetal Treatment Center (M.A.S., S.C., T.N.S.), Division of Maternal-Fetal Medicine and Reproductive Genetics; Center for Maternal Fetal Precision Medicine (M.A.S., D.G.); Departments of Neurology and Pediatrics (O.A.G., D.G.); and Department of Radiology and Biomedical Imaging (O.A.G.), University of California, San Francisco.

Teresa N Sparks (TN)

From the Department of Obstetrics, Gynecology, and Reproductive Sciences (M.A.S., M.-P.T., S.C., T.N.S.); Division of Medical Genetics (M.A.S., M.P.-P., J.T.S.), Department of Pediatrics, University of California, San Francisco; Division of Genetic Medicine (M.P.-P.), Department of Pediatrics, University of Washington, Seattle; Fetal Treatment Center (M.A.S., S.C., T.N.S.), Division of Maternal-Fetal Medicine and Reproductive Genetics; Center for Maternal Fetal Precision Medicine (M.A.S., D.G.); Departments of Neurology and Pediatrics (O.A.G., D.G.); and Department of Radiology and Biomedical Imaging (O.A.G.), University of California, San Francisco.

Dawn Gano (D)

From the Department of Obstetrics, Gynecology, and Reproductive Sciences (M.A.S., M.-P.T., S.C., T.N.S.); Division of Medical Genetics (M.A.S., M.P.-P., J.T.S.), Department of Pediatrics, University of California, San Francisco; Division of Genetic Medicine (M.P.-P.), Department of Pediatrics, University of Washington, Seattle; Fetal Treatment Center (M.A.S., S.C., T.N.S.), Division of Maternal-Fetal Medicine and Reproductive Genetics; Center for Maternal Fetal Precision Medicine (M.A.S., D.G.); Departments of Neurology and Pediatrics (O.A.G., D.G.); and Department of Radiology and Biomedical Imaging (O.A.G.), University of California, San Francisco.
ORCID: 0000-0003-4192-2362

Classifications MeSH