Bildgebung bei Fehlbildungen der kortikalen Entwicklung: ein Update

Julia M. Brunelli; Thiago J.P. Lopes; Isabela S. Alves; Daniel S. Delgado; Hae W. Lee; Maria G. M. Martin; Marcos F. L. Docema; Samya S. Alves; Paula C. Pinho; Vinicius T. Gonçalves; Lucas R. L. B. Oliveira; Jorge T. Takahashi; Pejman J. Maralani; Camila T. Amancio; Claudia C. Leite

doi:10.1055/a-2547-9506

Neuroradiologie Scan, Inhaltsverzeichnis

Neuroradiologie Scan 2026; 16(01): 43-67
DOI: 10.1055/a-2547-9506

CME-Fortbildung

Bildgebung bei Fehlbildungen der kortikalen Entwicklung: ein Update

Autor*innen

Julia M. Brunelli
Thiago J.P. Lopes
Isabela S. Alves
Daniel S. Delgado
Hae W. Lee
Maria G. M. Martin
Marcos F. L. Docema
Samya S. Alves
Paula C. Pinho
Vinicius T. Gonçalves
Lucas R. L. B. Oliveira
Jorge T. Takahashi
Pejman J. Maralani
Camila T. Amancio
Claudia C. Leite

Abstract

Definition und Klassifizierung kortikaler Entwicklungsstörungen haben sich in den letzten Jahren aufgrund neuer Erkenntnisse bezüglich molekularer und genetischer Zusammenhänge erheblich verändert. Die Autoren geben einen Überblick über die embryologische Gehirnentwicklung, die Nomenklatur und das Kategorisierungssystem für Anomalien der kortikalen Entwicklung und gewähren wertvolle Einblicke in die Interpretation der neuroradiologischen Muster.

Schlüsselwörter

Kortexfehlbildungen - Bildgebung - Mikrozephalie - Megalenzephalie - Heterotopie

Volltext

Referenzen

Literatur
1 Barkovich AJ, Guerrini R, Kuzniecky RI. et al. A developmental and genetic classification for malformations of cortical development: update 2012 (Pt. 5). Brain 2012; 135: 1348-1369
2 Moffat JJ, Ka M, Jung EM. et al. Genes and brain malformations associated with abnormal neuron positioning. Mol Brain 2015; 8: 72
3 Guérout N, Li X, Barnabé-Heider F. Cell fate control in the developing central nervous system. Exp Cell Res 2014; 321: 77-83
4 Wong FK, Marín O. Developmental cell death in the cerebral cortex. Annu Rev Cell Dev Biol 2019; 35: 523-542
5 Rakic P. Evolution of the neocortex: a perspective from developmental biology. Nat Rev Neurosci 2009; 10: 724-735
6 Marín O, Valiente M, Ge X. et al. Guiding neuronal cell migrations. Cold Spring Harb Perspect Biol 2010; 2: a001834
7 Subramanian L, Calcagnotto ME, Paredes MF. Cortical malformations: lessons in human brain development. Front Cell Neurosci 2020; 13: 576
8 Zhernovaia M, Dadar M, Mahmoud S. et al. PhyloBrain atlas: a cortical brain MRI atlas following a phylogenetic approach. Neuroscience 2020;
9 Severino M, Geraldo AF, Utz N. et al. Definitions and classification of malformations of cortical development: practical guidelines. Brain 2020; 143: 2874-2894
10 Dubois J, Alison M, Counsell SJ. et al. MRI of the neonatal brain: a review of methodological challenges and neuroscientific advances. J Magn Reson Imaging 2021; 53: 1318-1343
11 Barkovich AJ, Kuzniecky RI, Dobyns WB. et al. A classification scheme for malformations of cortical development. Neuropediatrics 1996; 27: 59-63
12 Oegema R, Barakat TS, Wilke M. et al. International consensus recommendations on the diagnostic work-up for malformations of cortical development. Nat Rev Neurol 2020; 16: 618-635
13 Ashwal S, Michelson D, Plawner L. Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. et al. Practice parameter: Evaluation of the child with microcephaly (an evidence-based review): report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Neurology 2009; 73: 887-897
14 Becerra-Solano LE, Mateos-Sánchez L, López-Muñoz E. Microcephaly, an etiopathogenic vision. Pediatr Neonatol 2021; 62: 354-360
15 Watemberg N, Silver S, Harel S. et al. Significance of microcephaly among children with developmental disabilities. J Child Neurol 2002; 17: 117-122
16 Adachi Y, Poduri A, Kawaguch A. et al. Congenital microcephaly with a simplified gyral pattern: associated findings and their significance. AJNR Am J Neuroradiol 2011; 32: 1123-1129
17 Barkovich AJ, Raybaud C. Pediatric neuroimaging. 6th ed. Philadelphia: Wolters Kluwer; 2019
18 de Wit MCY, de Coo IFM, Halley DJJ. et al. Movement disorder and neuronal migration disorder due to ARFGEF2 mutation. Neurogenetics 2009; 10: 333-336
19 Takanashi J, Arai H, Nabatame S. et al. Neuroradiologic features of CASK mutations. AJNR Am J Neuroradiol 2010; 31: 1619-1622
20 Soares de Oliveira-Szejnfeld P, Levine D, Melo ASDO. et al. Congenital brain abnormalities and Zika virus: what the radiologist can expect to see prenatally and postnatally. Radiology 2016; 281: 203-218
21 Guerrini R, Dobyns WB. Malformations of cortical development: clinical features and genetic causes. Lancet Neurol 2014; 13: 710-726
22 D’Gama AM, Woodworth MB, Hossain AA. et al. Somatic mutations activating the mTOR pathway in dorsal telencephalic progenitors cause a continuum of cortical dysplasias. Cell Rep 2017; 21: 3754-3766
23 DeMyer W. Megalencephaly: types, clinical syndromes, and management. Pediatr Neurol 1986; 2: 321-328
24 Mirzaa GM, Poduri A. Megalencephaly and hemimegalencephaly: breakthroughs in molecular etiology. Am J Med Genet C Semin Med Genet 2014; 166C: 156-172
25 Flores-Sarnat L. Hemimegalencephaly: part 1. Genetic, clinical, and imaging aspects. J Child Neurol 2002; 17: 373-384
26 Mirzaa GM, Conway RL, Gripp KW. et al. Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis. Am J Med Genet A 2012; 158A: 269-291
27 Mirzaa GM, Rivière JB, Dobyns WB. Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP. Am J Med Genet C Semin Med Genet 2013; 163C: 122-130
28 Pirozzi F, Nelson B, Mirzaa G. From microcephaly to megalencephaly: determinants of brain size. Dialogues Clin Neurosci 2018; 20: 267-282
29 Rivière JB, Mirzaa GM, O’Roak BJ. Finding of Rare Disease Genes (FORGE) Canada Consortium. et al. De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat Genet 2012; 44: 934-940
30 Kim SH, Choi J. Pathological classification of focal cortical dysplasia (FCD): personal comments for well understanding FCD classification. J Korean Neurosurg Soc 2019; 62: 288-295
31 Blumcke I, Spreafico R, Haaker G. EEBB Consortium. et al. Histopathological findings in brain tissue obtained during epilepsy surgery. N Engl J Med 2017; 377: 1648-1656
32 Blümcke I, Mühlebner A. Neuropathological work-up of focal cortical dysplasias using the new ILAE consensus classification system – practical guideline article invited by the Euro-CNS Research Committee. Clin Neuropathol 2011; 30: 164-177
33 Najm I, Lal D, Alonso Vanegas M. et al. The ILAE consensus classification of focal cortical dysplasia: an update proposed by an ad hoc task force of the ILAE diagnostic methods commission. Epilepsia 2022; 63: 1899-1919
34 Crino PB. Focal cortical dysplasia. Semin Neurol 2015; 35: 201-208
35 Garner GL, Streetman DR, Fricker JG. et al. Focal cortical dysplasia as a cause of epilepsy: the current evidence of associated genes and future therapeutic treatments. Interdiscip Neurosurg 2022; 30: 101635
36 Marcelis S, Vanden Bossche S, Dekeyzer S. Not your everyday FCD: imaging findings of focal cortical dysplasia type 1. J Belg Soc Radiol 2022; 106: 39
37 Baldassari S, Ribierre T, Marsan E. et al. Dissecting the genetic basis of focal cortical dysplasia: a large cohort study. Acta Neuropathol (Berl.) 2019; 138: 885-900
38 De Ciantis A, Barkovich AJ, Cosottini M. et al. Ultra-high-field MR imaging in polymicrogyria and epilepsy. AJNR Am J Neuroradiol 2015; 36: 309-316
39 Baron Y, Barkovich AJ. MR imaging of tuberous sclerosis in neonates and young infants. AJNR Am J Neuroradiol 1999; 20: 907-916
40 Mata-Mbemba D, Iimura Y, Hazrati LN. et al. MRI, magnetoencephalography, and surgical outcome of oligodendrocytosis versus focal cortical dysplasia type I. AJNR Am J Neuroradiol 2018; 39: 2371-2377
41 Schurr J, Coras R, Rössler K. et al. Mild malformation of cortical development with oligodendroglial hyperplasia in frontal lobe epilepsy: a new clinico-pathological entity. Brain Pathol 2017; 27: 26-35
42 Vuori K, Kankaanranta L, Häkkinen AM. et al. Low-grade gliomas and focal cortical developmental malformations: differentiation with proton MR spectroscopy. Radiology 2004; 230: 703-708
43 Spitzer H, Ripart M, Whitaker K. et al. Interpretable surface-based detection of focal cortical dysplasias: a Multi-centre Epilepsy Lesion Detection study. Brain 2022; 145: 3859-3871
44 Aronica E, Mühlebner A. Neuropathology of epilepsy. Handb Clin Neurol 2017; 145: 193-216
45 Barkovich AJ, Kuzniecky RI. Gray matter heterotopia. Neurology 2000; 55: 1603-1608
46 Lu DS, Karas PJ, Krueger DA. et al. Central nervous system manifestations of tuberous sclerosis complex. Am J Med Genet C Semin Med Genet 2018; 178: 291-298
47 Hiromoto Y, Azuma Y, Suzuki Y. et al. Hemizygous FLNA variant in West syndrome without periventricular nodular heterotopia. Hum Genome Var 2020; 7: 43
48 Lu YT, Hsu CY, Liu YT. et al. The clinical and imaging features of FLNA positive and negative periventricular nodular heterotopia. Biomed J 2022; 45: 542-548
49 Oegema R, Barkovich AJ, Mancini GMS. et al. Subcortical heterotopic gray matter brain malformations: classification study of 107 individuals. Neurology 2019; 93: e1360-e1373
50 Vriend I, Oegema R. Genetic causes underlying grey matter heterotopia. Eur J Paediatr Neurol 2021; 35: 82-92
51 Di Donato N, Chiari S, Mirzaa GM. et al. Lissencephaly: expanded imaging and clinical classification. Am J Med Genet A 2017; 173: 1473-1488
52 Koenig M, Dobyns WB, Di Donato N. Lissencephaly: update on diagnostics and clinical management. Eur J Paediatr Neurol 2021; 35: 147-152
53 Di Donato N, Timms AE, Aldinger KA. University of Washington Center for Mendelian Genomics. et al. Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly. Genet Med 2018; 20: 1354-1364
54 Fry AE, Cushion TD, Pilz DT. The genetics of lissencephaly. Am J Med Genet C Semin Med Genet 2014; 166C: 198-210
55 Sandilya S, Sarkar A, Idrisi T. Lissencephaly with CMV infection: a case study. Int J Clin Pharmacokinet Med Sci 2021; 1: 132-135
56 Squier W, Jansen A. Polymicrogyria: pathology, fetal origins and mechanisms. Acta Neuropathol Commun 2014; 2: 80
57 Forman MS, Squier W, Dobyns WB. et al. Genotypically defined lissencephalies show distinct pathologies. J Neuropathol Exp Neurol 2005; 64: 847-857
58 Barkovich AJ, Dobyns WB, Guerrini R. Malformations of cortical development and epilepsy. Cold Spring Harb Perspect Med 2015; 5: a022392
59 Guimaraes CVA, Dahmoush HM. Imaging phenotype correlation with molecular and molecular pathway defects in malformations of cortical development. Pediatr Radiol 2020; 50: 1974-1987
60 Raybaud C, Widjaja E. Development and dysgenesis of the cerebral cortex: malformations of cortical development. Neuroimaging Clin N Am 2011; 21: 483-543
61 Barkovich AJ. Current concepts of polymicrogyria. Neuroradiology 2010; 52: 479-487
62 Leventer RJ, Jansen A, Pilz DT. et al. Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients (Pt. 5). Brain 2010; 133: 1415-1427
63 Devisme L, Bouchet C, Gonzalès M. et al. Cobblestone lissencephaly: neuropatho subtypes and correlations with genes of dystroglycanopathies (Pt. 2). Brain 2012; 135: 469-482
64 Dobyns WB, Patton MA, Stratton RF. et al. Cobblestone lissencephaly with normal eyes and muscle. Neuropediatrics 1996; 27: 70-75
65 Alharbi S, Alhashem A, Alkuraya F. et al. Neuroimaging manifestations and genetic heterogeneity of Walker-Warburg syndrome in Saudi patients. Brain Dev 2021; 43: 380-388
66 Hirasawa-Inoue A, Sato N, Shigemoto Y. et al. New MRI findings in Fukuyama congenital muscular dystrophy: brain stem and venous system anomalies. AJNR Am J Neuroradiol 2020; 41: 1094-1098
67 Shenoy AM, Markowitz JA, Bonnemann CG. et al. Muscle-eye-brain disease. J Clin Neuromuscul Dis 2010; 11: 124-126
68 Brun BN, Mockler SRH, Laubscher KM. et al. Comparison of brain MRI findings with language and motor function in the dystroglycanopathies. Neurology 2017; 88: 623-629
69 Jerber J, Zaki MS, Al-Aama JY. et al. Biallelic mutations in TMTC3, encoding a transmembrane and TPR-containing protein, lead to Cobblestone lissencephaly. Am J Hum Genet 2016; 99: 1181-1189
70 Vandervore L, Stouffs K, Tanyalçin I. et al. Bi-allelic variants in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts. J Med Genet 2017; 54: 432-440
71 Stopa J, Kucharska-Miąsik I, Dziurzyńska-Białek E. et al. Diagnostic imaging and problems of schizencephaly. Pol Przegl Radiol Med Nukl 2014; 79: 444-449
72 Gutierrez-Castillo A, Jimenez-Ruiz A, Chavez-Castillo M. et al. Septo-optic dysplasia plus syndrome. Cureus 2018; 10: e3727
73 Mutch CA, Poduri A, Sahin M. et al. Disorders of microtubule function in neurons: imaging correlates. AJNR Am J Neuroradiol 2016; 37: 528-535
74 Li CCT, Yin H, Loh NK. et al. Malformations of cortical development: high-resolution MR and diffusion tensor imaging of fiber tracts at 3T. AJNR Am J Neuroradiol 2005; 26: 61-64
75 Leite CC, Lucato LT, Sato JR. et al. Multivoxel proton MR spectroscopy in malformations of cortical development. AJNR Am J Neuroradiol 2007; 28: 1071-1077