Prenatal Diagnosis of Cerebellar Cortical Dysplasia: Case Report

Demaerel P. Abnormalities of cerebellar foliation and fissuration: classification, neurogenetics and clinicoradiological correlations. Neuroradiology. 2002;44(8):639–46.

Article  CAS  PubMed  Google Scholar 

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.

Article  PubMed  Google Scholar 

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.

Article  CAS  PubMed  Google Scholar 

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.

Article  CAS  PubMed  Google Scholar 

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.

CAS  PubMed  PubMed Central  Google Scholar 

Demaerel P, Lagae L, Casaer P, et al. MR of cerebellar cortical dysplasia. AJNR Am J Neuroradiol. 1998;19(5):984–6.

CAS  PubMed  PubMed Central  Google Scholar 

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.

Article  CAS  PubMed  Google Scholar 

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.

Article  PubMed  Google Scholar 

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.

PubMed  PubMed Central  Google Scholar 

Shen W, Shian W, Chen C, et al. MRI of Joubert’s syndrome. Eur J Radiol. 1994;18(1):30–3.

Article  CAS  PubMed  Google Scholar 

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.

Article  CAS  PubMed  PubMed Central  Google Scholar 

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.

Article  CAS  PubMed  Google Scholar 

Poretti A, Leventer R, Cowan F, et al. Cerebellar cleft: a form of prenatal cerebellar disruption. Neuropediatrics. 2008;39(2):106–12.

Article  CAS  PubMed  Google Scholar 

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.

Article  CAS  PubMed  PubMed Central  Google Scholar 

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.

Article  CAS  PubMed  PubMed Central  Google Scholar 

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.

Article  CAS  PubMed  Google Scholar 

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.

Google Scholar 

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