Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2024 Aug 28;32(3):202-208.
doi: 10.4103/jmu.jmu_63_24. eCollection 2024 Jul-Sep.

Prenatal Ultrasound and Magnetic Resonance Findings of Glutaric Acidemia Type 1 and Its Challenges in Prenatal Diagnosis

Jo-Ting Wang  1 , Han-Jui Lee  2   3 , Tung-Yao Chang  1
Affiliations
Review

Prenatal Ultrasound and Magnetic Resonance Findings of Glutaric Acidemia Type 1 and Its Challenges in Prenatal Diagnosis

Jo-Ting Wang et al. J Med Ultrasound. .

Abstract

Glutaric acidemia type 1 (GA1) presents unique challenges in prenatal diagnosis, especially in cases with no family history. This review article aims to review and present the prenatal ultrasound and magnetic resonance findings of GA1 and consolidate key insights into the difficulties associated with GA1 prenatal diagnosis and the neuroimaging features that require careful differentiation during the diagnostic process.

Keywords: Fetal magnetic resonance imaging; Sylvian fissure; glutaric acidemia type 1; prenatal ultrasound.

PubMed Disclaimer

Conflict of interest statement

Dr. Tung-Yao Chang, an editorial board member at Journal of Medical Ultrasound, had no role in the peer review process of or decision to publish this article. The other authors declared no conflicts of interest in writing this paper.

Figures

Figure 1
Figure 1
The cerebrospinal fluid buildup has a distinctive appearance on fetal ultrasound, (a) Coronal ultrasound image at 24 + 6 weeks of gestation reveals hyperechoic vague lines (arrow) within the hypoechoic cystic space, (b) Ultrasound image at 29 + 6 weeks of gestation shows persistent hyperechoic vague lines (arrow) within the hypoechoic cystic space
Figure 2
Figure 2
(a and b) Depict axial and sagittal ultrasound images at 23 + 2 weeks of gestation, illustrating an overall normal fetal anatomy. Notably, there is observed dilatation in both the ambient cistern and quadrigeminal cistern (*)
Figure 3
Figure 3
(a) Axial ultrasound image at 24 + 6 weeks of gestation shows the persistent dilatation of the ambient cistern (*), along with an equivocal shape of the Sylvian fissure and dilation of the Sylvian cistern (arrow), (b) Axial ultrasound image at 29 + 6 weeks of gestation displays continued dilatation of the ambient cistern (*), along with an equivocal shape of the Sylvian fissure and dilation of the Sylvian cistern (arrow), (c) Axial ultrasound image at 29 + 6 weeks of gestation reveals an equivocal shape of bilateral Sylvian fissures and dilation of the Sylvian cistern (arrow)
Figure 4
Figure 4
Fetal magnetic resonance imaging at 25 weeks of gestation in axial (a), coronal (b), and sagittal (c) planes and at 30 weeks of gestation in axial (d), coronal (e), and sagittal (f) views. Planes show persistent enlarged cystic space in the quadrigeminal cistern (*)
Figure 5
Figure 5
(a-d) Fetal magnetic resonance imaging (MRI) at 25 weeks of gestation in the axial plane (a), and coronal plane (b), and Fetal MRI at 30 weeks of gestation in the axial plane (c), and coronal plane (d), show mildly increased pericerebral cerebrospinal fluid (CSF) space, particularly notable in the temporal fossa and Sylvian fissures (e and f). Note normal pericerebral CSF space and Sylvian fissure in a fetus at 30 weeks of gestation in the MRI axial plane (e) and coronal plane (f)
Figure 6
Figure 6
Postnatal brain magnetic resonance imaging at 7 days old (a and b), and 14 months old (c). Axial T2-weighted images revealed the widening of the Sylvian fissure (arrows in a), dilatation of the subarachnoid space in the quadrigeminal cistern (arrowheads in a) and bilateral temporal fossa (asterisks in b). On the follow-up examination, an axial T2-weighted image showed persistence of the widening of the Sylvian fissure. Note the high signal changes in the bilateral lentiform nuclei (arrowheads in c) and thalami. These findings are compatible with glutaric acidemia type 1
See this image and copyright information in PMC

References

    1. Boy N, Mengler K, Thimm E, Schiergens KA, Marquardt T, Weinhold N, et al. Newborn screening: A disease-changing intervention for Glutaric aciduria type 1. Ann Neurol. 2018;83:970–9. - PubMed
    1. Tsai FC, Lee HJ, Wang AG, Hsieh SC, Lu YH, Lee MC, et al. Experiences during newborn screening for Glutaric aciduria type 1: Diagnosis, treatment, genotype, phenotype, and outcomes. J Chin Med Assoc. 2017;80:253–61. - PubMed
    1. Boy N, Mühlhausen C, Maier EM, Ballhausen D, Baumgartner MR, Beblo S, et al. Recommendations for diagnosing and managing individuals with Glutaric aciduria type 1: Third revision. J Inherit Metab Dis. 2023;46:482–519. - PubMed
    1. Schuurmans IM, Dimitrov B, Schröter J, Ribes A, de la Fuente RP, Zamora B, et al. Exploring genotype-phenotype correlations in Glutaric aciduria type 1. J Inherit Metab Dis. 2023;46:371–90. - PubMed
    1. Wajner M, Amaral AU, Leipnitz G, Seminotti B. Pathogenesis of brain damage in Glutaric acidemia type I: Lessons from the genetic mice model. Int J Dev Neurosci. 2019;78:215–21. - PubMed

LinkOut - more resources