Abstract
This was a study of 12 cerebellar cortical dysplasias (CCDs) fetuses, these cases were characterized by a disorder of cerebellar fissures. Historically, CCD diagnosis was primarily performed using postnatal imaging. Unique to this study was the case series of CCD for prenatal diagnosis using prenatal ultrasound, as well as we found that AXIN1 and FOXC1 mutations may be related to CCD.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
Data Availability
The data that support the fndings of this study are available from the corresponding author upon reasonable request.
References
Demaerel P. Abnormalities of cerebellar foliation and fissuration: classification, neurogenetics and clinicoradiological correlations. Neuroradiology. 2002;44(8):639–46.
Standring S. GRAY'S anatomy: the anatomical basis of clinical practice, 41st ed. London: Elsevier Health Sciences; 2015. pp 254–5, 331–5.
Romaniello R, Arrigoni F, Panzeri E, et al. Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation. Eur Radiol. 2017;27(12):5080–92.
Jissendi Tchofo P, De Tiege X, Goldman S, et al. Supratentorial functional disturbances in two children with cerebellar cortical dysplasia. J Neuroradiol. 2004;31(5):399–405.
Massoud M, Cagneaux M, Garel C, et al. Prenatal unilateral cerebellar hypoplasia in a series of 26 cases: significance and implications for prenatal diagnosis. Ultrasound Obstet Gynecol. 2014;44(4):447–54.
Soto-Ares G, Delmaire C, Deries B, et al. Cerebellar cortical dysplasia: MR findings in a complex entity. Am J Neuroradiol. 2000;21(8):1511–9.
Demaerel P, Lagae L, Casaer P, et al. MR of cerebellar cortical dysplasia. AJNR Am J Neuroradiol. 1998;19(5):984–6.
Massoud M, Clerc J, Cagneux M, et al. Prenatal diagnosis of cerebellar cortical dysplasia associated with abnormalities of foliation. Ultrasound Obstet Gynecol. 2012;40(2):243–4.
Jissendi-Tchofo P, Pandit F, Soto-Ares G, et al. Neuropsychological evaluation and follow-up of children with cerebellar cortical dysplasia. Dev Med Child Neurol. 2011;53(12):1119–27.
Soto-Ares G, Devisme L, Jorriot S, et al. Neuropathologic and MR imaging correlation in a neonatal case of cerebellar cortical dysplasia. Am J Neuroradiol. 2002;23(7):1101–4.
Shen W, Shian W, Chen C, et al. MRI of Joubert’s syndrome. Eur J Radiol. 1994;18(1):30–3.
Brar B, Thompson M, Vora N, et al. Prenatal phenotyping of fetal tubulinopathies: A multicenter retrospective case series. Prenat Diagn. 2022;42(13):1686–93.
Sasaki M, Oikawa H, Ehara S, et al. Disorganised unilateral cerebellar folia: a mild form of cerebellar cortical dysplasia? Neuroradiology. 2001;43(2):151–5.
Poretti A, Leventer R, Cowan F, et al. Cerebellar cleft: a form of prenatal cerebellar disruption. Neuropediatrics. 2008;39(2):106–12.
Lorenz A, Deutschmann M, Ahlfeld J, et al. Severe alterations of cerebellar cortical development after constitutive activation of Wnt signaling in granule neuron precursors. Mol Cell Biol. 2011;31(16):3326–38.
Aldinger K, Lehmann O, Hudgins L, et al. FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation. Nat Genet. 2009;41(9):1037–42.
Haldipur P, Gillies G, Janson O, et al. Foxc1 dependent mesenchymal signalling drives embryonic cerebellar growth. eLife. 2014;3:e03962.
Jissendi-Tchofo P, Pandit F, Vallée L, et al. Brain regional glucose uptake changes in isolated cerebellar cortical dysplasia: qualitative assessment using coregistrated FDG-PET/MRI. Cerebellum (London, England). 2012;11(1):280–8.
Ding Y, Wen H, Liao Y, et al. Prenatal diagnosis of fetal unilateral cerebellar hypoplasia by ultrasound and review of the literature [in Chinese]. Chin J Med Ultrasound (Electronic Edition). 2022;19(1):8–16.
Acknowledgements
The author is thankful to the ultrasound doctors, doctors, and the clinical laboratory of Shenzhen Maternity and Child Healthcare Hospital. The author also extends her gratitude to Mr. Shengli Li of Shenzhen Maternity and Child Healthcare Hospital, Ms. Xiaohong Zhong of Xiamen Maternal and Child Health Hospital and Ms. Shaojun Zhang of Shenzhen Children’s Hospital for the support the provided in this study.
Funding
This work was supported by National Key R&D Program of China (2022YFF0606301) and Science, Technology and Innovation Committee of Shenzhen (JCYJ20210324130812035).
Author information
Authors and Affiliations
Contributions
Yan Ding and Zhixuan Chen wrote the main manuscript text; Huaxuan Wen, Dandan Luo and Shaojun Zhang prepared figures; Ying Yuan provided funding support; Xiaohong Zhong and Shengli Li reviewed the main manuscript text. All authors approved the final version to be published.
Corresponding author
Ethics declarations
Ethical Approval
Institutional Review Board approval was obtained (Ethics Committee of Shenzhen Maternity and Child Healthcare Hospital, Reference LLYJ2021-144–080).
Competing Interests
The authors declare no competing interests.
Additional information
Publisher's Note
Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
Rights and permissions
Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.
About this article
Cite this article
Ding, Y., Chen, Z., Wen, H. et al. Prenatal Diagnosis of Cerebellar Cortical Dysplasia: Case Report. Cerebellum (2024). https://doi.org/10.1007/s12311-024-01688-9
Accepted:
Published:
DOI: https://doi.org/10.1007/s12311-024-01688-9