Congenital Brain Malformations: An Integrated Diagnostic Approach

Seminars in Pediatric Neurology - Tập 42 - Trang 100973 - 2022
Bimal P. Chaudhari1, Mai-Lan Ho2
1Assistant Professor of Pediatrics, Nationwide Children's Hospital and The Ohio State University, Columbus, OH
2Associate Professor of Radiology, Nationwide Children's Hospital and The Ohio State University, Columbus, OH

Tài liệu tham khảo

Filly, 1989, Level 1, level 2, level 3 obstetric sonography: I'll see your level and raise you one, Radiology, 172, 312, 10.1148/radiology.172.2.2664860 2018, AIUM-ACR-ACOG-SMFM-SRU Practice Parameter for the Performance of Standard Diagnostic Obstetric Ultrasound Examinations, J Ultrasound Med, 37, E13, 10.1002/jum.14831 ACR-SPR Practice Parameter for the Safe and Effective Performance of Fetal Magnetic Resonance Imaging (MRI). Available at: https://www.acr.org/-/media/ACR/Files/Practice-Parameters/mr-fetal.pdf. Accessed February 20, 2022. Kline-Fath, 2019, Ultrasound and MR imaging of the normal fetal brain, Neuroimaging Clin N Am, 29, 339, 10.1016/j.nic.2019.03.001 The Human Phenotype Ontology. Available at: https://hpo.jax.org/app/. Accessed February 20, 2022. Oegema, 2020, International consensus recommendations on the diagnostic work-up for malformations of cortical development, Nat Rev Neurol, 16, 618, 10.1038/s41582-020-0395-6 Aldinger, 2019, Redefining the etiologic landscape of cerebellar malformations, Am J Hum Genet, 105, 606, 10.1016/j.ajhg.2019.07.019 Hay, 2018, ACOG and SMFM guidelines for prenatal diagnosis: Is karyotyping really sufficient?, Prenat Diagn, 38, 184, 10.1002/pd.5212 2013, American College of Obstetricians and Gynecologists Committee on Genetics. Committee Opinion No. 581: the use of chromosomal microarray analysis in prenatal diagnosis, Obstet Gynecol, 122, 1374, 10.1097/01.AOG.0000438962.16108.d1 2016, Committee on Genetics and the Society for Maternal-Fetal Medicine. Committee Opinion No.682: Microarrays and Next-Generation Sequencing Technology: The Use of Advanced Genetic Diagnostic Tools in Obstetrics and Gynecology, Obstet Gynecol, 128, e262, 10.1097/AOG.0000000000001817 Trosman, 2020, Perspectives of US private payers on insurance coverage for pediatric and prenatal exome sequencing: Results of a study from the Program in Prenatal and Pediatric Genomic Sequencing (P3EGS), Genet Med, 22, 283, 10.1038/s41436-019-0650-7 Berg, 2017, Newborn sequencing in genomic medicine and public health, Pediatrics, 139, 10.1542/peds.2016-2252 Kingsmore, 2019, A randomized, controlled trial of the analytic and diagnostic performance of singleton and trio, rapid genome and exome sequencing in ill infants, Am J Hum Genet, 105, 719, 10.1016/j.ajhg.2019.08.009 Grogono, 1968, Children with agenesis of the corpus callosum, Dev Med Child Neurol, 10, 613, 10.1111/j.1469-8749.1968.tb02944.x Lavrador, 2019, White-matter commissures: a clinically focused anatomical review, Surg Radiol Anat, 41, 613, 10.1007/s00276-019-02218-7 Jinkins, 1989, MR imaging of callosal and corticocallosal dysgenesis, AJNR Am J Neuroradiol, 10, 339 Ben Elhend, 2019, Lipoma with agenesis of corpus callosum: 2 case reports and literature review, World Neurosurg, 125, 123, 10.1016/j.wneu.2019.01.088 Niwa, 2016, Interhemispheric lipoma, callosal anomaly, and malformations of cortical development: a case series, Neuropediatrics, 47, 115, 10.1055/s-0035-1570752 Barkovich, 2001, Callosal agenesis with cyst: a better understanding and new classification, Neurology, 56, 220, 10.1212/WNL.56.2.220 Pavone, 2005, Callosal anomalies with interhemispheric cyst: expanding the phenotype, Acta Paediatr, 94, 1066, 10.1111/j.1651-2227.2005.tb02047.x Uccella, 2019, Dissecting the neurological phenotype in children with callosal agenesis, interhemispheric cysts and malformations of cortical development, J Neurol, 266, 1167, 10.1007/s00415-019-09247-7 Oh, 2012, Asymmetric ventriculomegaly, interhemispheric cyst, and dysgenesis of the corpus callosum (AVID): an imaging triad, J Ultrasound Med, 31, 1811, 10.7863/jum.2012.31.11.1811 Limoges, 2021, Neurological and clinical outcomes in infants and children with a fetal diagnosis of asymmetric ventriculomegaly, interhemispheric cyst, and dysgenesis of the corpus callosum, J Neurosurg Pediatr, 1 Wahl, 2009, Variability of homotopic and heterotopic callosal connectivity in partial agenesis of the corpus callosum: a 3T diffusion tensor imaging and Q-ball tractography study, AJNR Am J Neuroradiol, 30, 282, 10.3174/ajnr.A1361 Tovar-Moll, 2007, Neuroplasticity in human callosal dysgenesis: a diffusion tensor imaging study, Cereb Cortex, 17, 531, 10.1093/cercor/bhj178 Bénézit, 2015, Organising white matter in a brain without corpus callosum fibres, Cortex, 63, 155, 10.1016/j.cortex.2014.08.022 Jakab, 2015, Disrupted developmental organization of the structural connectome in fetuses with corpus callosum agenesis, Neuroimage, 111, 277, 10.1016/j.neuroimage.2015.02.038 Kasprian, 2013, Assessing prenatal white matter connectivity in commissural agenesis, Brain, 136, 168, 10.1093/brain/aws332 Jeret, 1985, Frequency of agenesis of the corpus callosum in the developmentally disabled population as determined by computerized tomography, Pediatr Neurosci, 12, 101, 10.1159/000120229 Sotiriadis, 2012, Neurodevelopment after prenatal diagnosis of isolated agenesis of the corpus callosum: an integrative review, Am J Obstet Gynecol, 206, 337, 10.1016/j.ajog.2011.12.024 Bernardes da Cunha, 2021, Neurodevelopmental outcomes following prenatal diagnosis of isolated corpus callosum agenesis: a systematic review, Fetal Diagn Ther, 48, 88, 10.1159/000512534 Sajan, 2013, Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria, PLoS Genet, 9, 10.1371/journal.pgen.1003823 Drexler, 2022, Deep phenotyping and association with diagnostic yield of prenatal exome sequencing for fetal brain abnormalities, Am J Obstet Gynecol, 226, S59, 10.1016/j.ajog.2021.11.123 de Koning, 2022, Prenatal exome sequencing: A useful tool for the fetal neurologist, Clin Genet, 101, 65, 10.1111/cge.14070 Hofman, 2020, Corpus callosum agenesis: An insight into the etiology and spectrum of symptoms, Brain Sci, 10, 625, 10.3390/brainsci10090625 Sataite, 2021, Septo-optic dysplasia, Handb Clin Neurol, 181, 51, 10.1016/B978-0-12-820683-6.00005-1 Williams, 1993, Septo-optic dysplasia: the clinical insignificance of an absent septum pellucidum, Dev Med Child Neurol, 35, 490, 10.1111/j.1469-8749.1993.tb11679.x M Das J, Dossani RH. Cavum Septum Pellucidum. 2021 Aug 9. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022. PMID: 30725733. Tubbs, 2011, Cavum velum interpositum, cavum septum pellucidum, and cavum vergae: a review, Childs Nerv Syst, 27, 1927, 10.1007/s00381-011-1457-2 Raivio, 2012, Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia, J Clin Endocrinol Metab, 97, E694, 10.1210/jc.2011-2938 Brodsky, 1993, Optic nerve hypoplasia. Clinical significance of associated central nervous system abnormalities on magnetic resonance imaging, Arch Ophthalmol, 111, 66, 10.1001/archopht.1993.01090010070029 Polizzi, 2006, Septo-optic dysplasia complex: a heterogeneous malformation syndrome, Pediatr Neurol, 34, 66, 10.1016/j.pediatrneurol.2005.07.004 Webb, 2010, Septo-optic dysplasia, Eur J Hum Genet, 18, 393, 10.1038/ejhg.2009.125 Kelberman, 2007, Genetics of septo-optic dysplasia, Pituitary, 10, 393, 10.1007/s11102-007-0055-5 Geng, 2009, Pathogenesis of holoprosencephaly, J Clin Invest, 119, 1403, 10.1172/JCI38937 Calloni, 2019, Disorders of ventral induction/spectrum of holoprosencephaly, Neuroimaging Clin N Am, 29, 411, 10.1016/j.nic.2019.03.003 Fallet-Bianco, 2018, Neuropathology of holoprosencephaly, Am J Med Genet C Semin Med Genet, 178, 214, 10.1002/ajmg.c.31623 Weiss, 2018, Holoprosencephaly from conception to adulthood, Am J Med Genet C Semin Med Genet, 178, 122, 10.1002/ajmg.c.31624 Hahn, 2010, Neuroimaging advances in holoprosencephaly: Refining the spectrum of the midline malformation, Am J Med Genet C Semin Med Genet, 154C, 120, 10.1002/ajmg.c.30238 Winter, 2015, Holoprosencephaly: a survey of the entity, with embryology and fetal imaging, Radiographics, 35, 275, 10.1148/rg.351140040 Hahn, 2010, Septopreoptic holoprosencephaly: a mild subtype associated with midline craniofacial anomalies, AJNR Am J Neuroradiol, 31, 1596, 10.3174/ajnr.A2123 Simon, 2002, The middle interhemispheric variant of holoprosencephaly, AJNR Am J Neuroradiol, 23, 151 Tavano, 2021, Prenatal diagnosis of middle interhemispheric variant of holoprosencephaly: review of literature and prenatal case series, J Matern Fetal Neonatal Med, 1 Roessler, 2018, Holoprosencephaly in the genomics era, Am J Med Genet C Semin Med Genet, 178, 165, 10.1002/ajmg.c.31615 Dubourg, 2018, Recent advances in understanding inheritance of holoprosencephaly, Am J Med Genet C Semin Med Genet, 178, 258, 10.1002/ajmg.c.31619 Kruszka, 2018, Syndromes associated with holoprosencephaly, Am J Med Genet C Semin Med Genet, 178, 229, 10.1002/ajmg.c.31620 Cohen, 2006, Holoprosencephaly: clinical, anatomic, and molecular dimensions, Birth Defects Res A Clin Mol Teratol, 76, 658, 10.1002/bdra.20295 Sekula, 2011, The pathogenesis of Chiari I malformation and syringomyelia, Neurol Res, 33, 232, 10.1179/016164111X12962202723724 Adzick, 2011, A randomized trial of prenatal versus postnatal repair of myelomeningocele, N Engl J Med, 364, 993, 10.1056/NEJMoa1014379 Moldenhauer, 2017, Fetal surgery for myelomeningocele: After the Management of Myelomeningocele Study (MOMS), Semin Fetal Neonatal Med, 22, 360, 10.1016/j.siny.2017.08.004 Paslaru, 2021, Myelomeningocele Surgery over the 10 Years Following the MOMS Trial: A Systematic Review of Outcomes in Prenatal versus Postnatal Surgical Repair, Medicina (Kaunas), 57, 707, 10.3390/medicina57070707 Hidalgo JA, Tork CA, Varacallo M. Arnold Chiari Malformation. 2022 Feb 12. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan –. PMID: 28613730. Frič, 2020, Chiari type 1-a malformation or a syndrome? A critical review, Acta Neurochir (Wien), 162, 1513, 10.1007/s00701-019-04100-2 Capra, 2019, Chiari malformation type I: what information from the genetics?, Childs Nerv Syst, 35, 1665, 10.1007/s00381-019-04322-w Sadler, 2021, Rare and de novo coding variants in chromodomain genes in Chiari I malformation, Am J Hum Genet, 108, 100, 10.1016/j.ajhg.2020.12.001 Saletti, 2019, Chiari I malformation in defined genetic syndromes in children: are there common pathways?, Childs Nerv Syst, 35, 1727, 10.1007/s00381-019-04319-5 Bosemani, 2015, Congenital abnormalities of the posterior fossa, Radiographics, 35, 200, 10.1148/rg.351140038 Utsunomiya, 2006, Midline cystic malformations of the brain: imaging diagnosis and classification based on embryologic analysis, Radiat Med, 24, 471, 10.1007/s11604-006-0049-7 Nelson, 2004, A different approach to cysts of the posterior fossa, Pediatr Radiol, 34, 720, 10.1007/s00247-004-1253-1 Lerman-Sagie, 2018, Fetal cerebellar disorders, Handb Clin Neurol, 155, 3, 10.1016/B978-0-444-64189-2.00001-9 Correa, 2011, Neuroimaging of Dandy-Walker malformation: new concepts, Top Magn Reson Imaging, 22, 303, 10.1097/RMR.0b013e3182a2ca77 Kau, 2020, Blake's Pouch Cysts and differential diagnoses in prenatal and postnatal MRI: a pictorial review, Clin Neuroradiol, 30, 435, 10.1007/s00062-019-00871-4 Imataka, 2007, Dandy-Walker syndrome and chromosomal abnormalities, Congenit Anom (Kyoto), 47, 113, 10.1111/j.1741-4520.2007.00158.x Millen KJ.ZIC1,ZIC4, and FOXC1 in Dandy-Walker Malformation. In: Epstein's Inborn Errors of Development: The Molecular Basis of Clinical Disorders of Morphogenesis (3rd ed.). Erickson RP, Wynshaw-Boris AJ, eds. DOI: 10.1093/med/9780199934522.003.0137. Aldinger, 2019, Redefining the etiologic landscape of cerebellar malformations, Am J Hum Genet, 105, 606, 10.1016/j.ajhg.2019.07.019 Valente, 2013, Joubert syndrome and related disorders, Handb Clin Neurol, 113, 1879, 10.1016/B978-0-444-59565-2.00058-7 Surisetti, 2021, Clinical and imaging profile of patients with Joubert Syndrome, J Mov Disord, 14, 231, 10.14802/jmd.21066 Poretti, 2007, Diffusion tensor imaging in Joubert syndrome, AJNR Am J Neuroradiol, 28, 1929, 10.3174/ajnr.A0703 Hsu, 2015, High-resolution diffusion tensor imaging and tractography in Joubert Syndrome: beyond molar tooth sign, Pediatr Neurol, 53, 47, 10.1016/j.pediatrneurol.2015.02.027 Parisi M, Glass I. Joubert Syndrome. 2003 Jul 9 [Updated 2017 Jun 29]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1325/. Accessed February 20, 2022. Radha Rama Devi, 2020, Clinical and molecular diagnosis of Joubert Syndrome and related disorders, Pediatr Neurol, 106, 43, 10.1016/j.pediatrneurol.2020.01.012 Bachmann-Gagescu, 2015, Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity, J Med Genet, 52, 514, 10.1136/jmedgenet-2015-103087 Parisi, 2019, The molecular genetics of Joubert syndrome and related ciliopathies: The challenges of genetic and phenotypic heterogeneity, Transl Sci Rare Dis, 4, 25 Mitchison, 2017, Motile and non-motile cilia in human pathology: from function to phenotypes, J Pathol, 241, 294, 10.1002/path.4843 Bhayana, 2018, Clinicoradiological aspects of pontine tegmental cap dysplasia: Case report of a rare hindbrain malformation, Indian J Radiol Imaging, 28, 18, 10.4103/ijri.IJRI_25_17 Barth, 2007, Pontine tegmental cap dysplasia: a novel brain malformation with a defect in axonal guidance, Brain, 130, 2258, 10.1093/brain/awm188 Nixon, 2016, Temporal bone and cranial nerve findings in pontine tegmental cap dysplasia, Neuroradiology, 58, 179, 10.1007/s00234-015-1604-7 Jissendi-Tchofo, 2009, Pontine tegmental cap dysplasia: MR imaging and diffusion tensor imaging features of impaired axonal navigation, AJNR Am J Neuroradiol, 30, 113, 10.3174/ajnr.A1305 Gandhi, 2020, Pontine tegmental cap dysplasia- the Role of MRI and DTI in diagnosis, Neurol India, 68, 691, 10.4103/0028-3886.289019 Caan, 2014, Ectopic peripontine arcuate fibres, a novel finding in pontine tegmental cap dysplasia, Eur J Paediatr Neurol, 18, 434, 10.1016/j.ejpn.2013.12.007 Engle, 2010, Human genetic disorders of axon guidance, Cold Spring Harb Perspect Biol, 2, 10.1101/cshperspect.a001784 Szczaluba, 2010, Pontine tegmental cap dysplasia: a hindbrain malformation caused by defective neuronal migration, Neurology, 74, 1835, 10.1212/WNL.0b013e3181e0f7f8 Picker-Minh, 2017, Pontine tegmental cap dysplasia in an extremely preterm infant and review of the literature, J Child Neurol, 32, 334, 10.1177/0883073816680748 Macferran, 2010, Pontine tegmental cap dysplasia with a 2q13 microdeletion involving the NPHP1 gene: insights into malformations of the mid-hindbrain, Semin Pediatr Neurol, 17, 69, 10.1016/j.spen.2010.02.014 Chong, 2015, A case of pontine tegmental cap dysplasia with comorbidity of oculoauriculovertebral spectrum, Brain Dev, 37, 171, 10.1016/j.braindev.2014.02.007 Ishak, 2012, Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity, Brain, 135, 1370, 10.1093/brain/aws065 Fouda, 2021, Rhomboencephalosynapsis: Review of the Literature, World Neurosurg, 159, 48, 10.1016/j.wneu.2021.12.062 Pasquier, 2009, Rhombencephalosynapsis and related anomalies: a neuropathological study of 40 fetal cases, Acta Neuropathol, 117, 185, 10.1007/s00401-008-0469-9 Weaver, 2013, Rhombencephalosynapsis: embryopathology and management strategies of associated neurosurgical conditions with a review of the literature, J Neurosurg Pediatr, 11, 320, 10.3171/2012.12.PEDS12188 Krajden Haratz, 2021, Prenatal diagnosis of rhombencephalosynapsis: neuroimaging features and severity of vermian anomaly, Ultrasound Obstet Gynecol, 58, 864, 10.1002/uog.23660 Aldinger, 2018, Rhombencephalosynapsis: Fused cerebellum, confused geneticists, Am J Med Genet C Semin Med Genet, 178, 432, 10.1002/ajmg.c.31666 Démurger, 2013, Array-CGH analysis suggests genetic heterogeneity in rhombencephalosynapsis, Mol Syndromol, 4, 267, 10.1159/000353878 Choudhary, 2021, Gomez-López-Hernandez syndrome: the triad of cerebello-trigemino-dermal dysplasia, BMJ Case Rep, 14, 10.1136/bcr-2021-246189 Perrone, 2020, Gomez-López-Hernández syndrome: A case report with clinical and molecular evaluation and literature review, Am J Med Genet A, 182, 1761, 10.1002/ajmg.a.61594 Lindsay, 2020, Genetic evaluation including exome sequencing of two patients with Gomez-Lopez-Hernandez syndrome: Case reports and review of the literature, Am J Med Genet A, 182, 623, 10.1002/ajmg.a.61496 Vattoth, 2007, Partial Rhombencephalosynapsis of the Superior Cerebellum Associated with GM1 Gangliosidosis, Neuroradiol J, 20, 182, 10.1177/197140090702000208 Elliott, 2008, Rhombencephalosynapsis associated with autosomal dominant polycystic kidney disease Type 1, J Neurosurg Pediatr, 2, 435, 10.3171/PED.2008.2.12.435 Mak, 2020, MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis, Brain, 143, 55, 10.1093/brain/awz379 Mak, 2020, MN1 C-terminal truncation syndrome Ramocki, 2011, Recurrent partial rhombencephalosynapsis and holoprosencephaly in siblings with a mutation of ZIC2, Am J Med Genet A, 155A, 1574, 10.1002/ajmg.a.34029 Monteagudo, 2020, Exencephaly-anencephaly Sequence, Am J Obstet Gynecol, 223, B5, 10.1016/j.ajog.2020.08.176 Munteanu, 2020, The etiopathogenic and morphological spectrum of anencephaly: a comprehensive review of literature, Rom J Morphol Embryol, 61, 335, 10.47162/RJME.61.2.03 Szkodziak, 2020, The role of the "beret" sign and other markers in ultrasound diagnostic of the acrania-exencephaly-anencephaly sequence stages, Arch Gynecol Obstet, 302, 619, 10.1007/s00404-020-05650-y Copp, 2013, Neural tube defects–disorders of neurulation and related embryonic processes, Wiley Interdiscip Rev Dev Biol, 2, 213, 10.1002/wdev.71 Avagliano, 2019, Overview on neural tube defects: From development to physical characteristics, Birth Defects Res, 111, 1455, 10.1002/bdr2.1380 Tonni, 2010, Anencephaly-exencephaly sequence and congenital diaphragmatic hernia in a fetus with 46, XX karyotype: Early prenatal diagnosis, necropsy, and maternal folate pathway genetic analysis, Fetal Pediatr Pathol, 29, 69, 10.3109/15513811003615005 Veerapaneni P, Veerapaneni KD, Yadala S. Schizencephaly. 2021 Aug 11. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022. PMID: 32809748. Granata, 2005, Schizencephaly: clinical spectrum, epilepsy, and pathogenesis, J Child Neurol, 20, 313, 10.1177/08830738050200040801 Oh, 2005, Fetal schizencephaly: pre- and postnatal imaging with a review of the clinical manifestations, Radiographics, 25, 647, 10.1148/rg.253045103 Shimizu, 2012, The differences in epileptic characteristics in patients with porencephaly and schizencephaly, Brain Dev, 34, 546, 10.1016/j.braindev.2011.10.001 Eller, 1995, Fetal porencephaly: a review of etiology, diagnosis, and prognosis, Obstet Gynecol Surv, 50, 684, 10.1097/00006254-199509000-00023 Harada, 2018, Schizencephaly and porencephaly due to fetal intracranial hemorrhage: a report of two cases, Yonago Acta Med, 60, 241, 10.33160/yam.2017.12.005 Yoneda, 2013, Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly, Ann Neurol, 73, 48, 10.1002/ana.23736 Itai, 2021, Prenatal clinical manifestations in individuals with COL4A1/2 variants, J Med Genet, 58, 505, 10.1136/jmedgenet-2020-106896 Maurice, 2021, Prevalence of COL4A1 and COL4A2 mutations in severe fetal multifocal hemorrhagic and/or ischemic cerebral lesions, Ultrasound Obstet Gynecol, 57, 783, 10.1002/uog.22106 Cavallin, 2018, Further refinement of COL4A1 and COL4A2 related cortical malformations, Eur J Med Genet, 61, 765, 10.1016/j.ejmg.2018.10.004 Meuwissen, 2011, Sporadic COL4A1 mutations with extensive prenatal porencephaly resembling hydranencephaly, Neurology, 76, 844, 10.1212/WNL.0b013e31820e7751 Sandoval JI, De Jesus O. Hydranencephaly. [Updated 2021 Aug 30]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022. Available at: https://www.ncbi.nlm.nih.gov/books/NBK558991/. Accessed February 20, 2022. Omar, 2020, Hydranencephaly: clinical features and survivorship in a retrospective cohort, World Neurosurg., 144, e589, 10.1016/j.wneu.2020.09.029 Pavone, 2014, Hydranencephaly: cerebral spinal fluid instead of cerebral mantles, Ital J Pediatr, 40, 79, 10.1186/s13052-014-0079-1 Govaert, 2009, Prenatal stroke, Semin Fetal Neonatal Med, 14, 250, 10.1016/j.siny.2009.07.008 Quek, 2008, Hydranencephaly associated with interruption of bilateral internal carotid arteries, Pediatr Neonatol, 49, 43, 10.1016/S1875-9572(08)60011-X Jordan, 2004, CT angiography in a newborn child with hydranencephaly, J Perinatol, 24, 565, 10.1038/sj.jp.7211138 Hino-Fukuyo, 2016, Neuroepidemiology of porencephaly, schizencephaly, and hydranencephaly in miyagi prefecture, Japan, Pediatr Neurol., 54, 39, 10.1016/j.pediatrneurol.2015.08.016 Soster, 2015, Hydranencephaly in a newborn with a FLVCR2 mutation and prenatal exposure to cocaine, Birth Defects Res A Clin Mol Teratol, 103, 45, 10.1002/bdra.23288 Sen, 2021, Biallelic variants in LAMB1 causing hydranencephaly: a severe phenotype of a rare malformative encephalopathy, AJP Rep, 11, e26, 10.1055/s-0040-1722728 Rawlins, 2019, An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia, Eur J Hum Genet, 27, 657, 10.1038/s41431-018-0306-0 Yokoi, 2015, TUBA1A mutation can cause a hydranencephaly-like severe form of cortical dysgenesis, Sci Rep, 5, 15165, 10.1038/srep15165 Kline-Fath, 2018, Fowler syndrome and fetal MRI findings: a genetic disorder mimicking hydranencephaly/hydrocephalus, Pediatr Radiol, 48, 1032, 10.1007/s00247-018-4106-z Radio, 2018, Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome or Fowler syndrome: Report of a family and insight into the disease's mechanism, Mol Genet Genomic Med, 6, 446, 10.1002/mgg3.376 McAllister, 2012, Pathophysiology of congenital and neonatal hydrocephalus, Semin Fetal Neonatal Med, 17, 285, 10.1016/j.siny.2012.06.004 Kahle, 2016, Hydrocephalus in children, Lancet, 387, 788, 10.1016/S0140-6736(15)60694-8 Ross, 2020, Unlocking the genetic complexity of congenital hydrocephalus, Nat Med, 26, 1682, 10.1038/s41591-020-1120-0 Lal, 2018, Genetics sheds new light on congenital hydrocephalus biology, Neuron., 99, 246, 10.1016/j.neuron.2018.07.008 Kundishora, 2021, Genomics of human congenital hydrocephalus, Childs Nerv Syst, 37, 3325, 10.1007/s00381-021-05230-8 Furey, 2018, Human Genetics and Molecular Mechanisms of Congenital Hydrocephalus, World Neurosurg., 119, 441, 10.1016/j.wneu.2018.09.018 Shaheen, 2017, The genetic landscape of familial congenital hydrocephalus, Ann Neurol, 81, 890, 10.1002/ana.24964 Nagaraj, 2020, Imaging diagnosis of ventriculomegaly: fetal, neonatal, and pediatric, Childs Nerv Syst, 36, 1669, 10.1007/s00381-019-04365-z Verhagen, 2011, Congenital hydrocephalus in clinical practice: a genetic diagnostic approach, Eur J Med Genet, 54, e542, 10.1016/j.ejmg.2011.06.005 Etchegaray, 2020, Prenatal genetic considerations in congenital ventriculomegaly and hydrocephalus, Childs Nerv Syst, 36, 1645, 10.1007/s00381-020-04526-5 Frigieri, 1996, Multicystic encephalomalacia in term infants, Childs Nerv Syst, 12, 759, 10.1007/BF00261594 Sen, 2006, Astrocytes and developmental white matter disorders, Ment Retard Dev Disabil Res Rev, 12, 97, 10.1002/mrdd.20106 Arican, 2019, The clinical and molecular characteristics of molybdenum cofactor deficiency due to MOCS2 mutations, Pediatr Neurol, 99, 55, 10.1016/j.pediatrneurol.2019.04.021 Hannah-Shmouni, 2018, Severe cystic degeneration and intractable seizures in a newborn with molybdenum cofactor deficiency type B, Mol Genet Metab Rep, 18, 11, 10.1016/j.ymgmr.2018.12.003 Watrin, 2015, Causes and consequences of gray matter heterotopia, CNS Neurosci Ther, 21, 112, 10.1111/cns.12322 Brock, 2021, Neuropathology of genetically defined malformations of cortical development-A systematic literature review, Neuropathol Appl Neurobiol, 47, 585, 10.1111/nan.12696 Guerrini, 2014, Malformations of cortical development: clinical features and genetic causes, Lancet Neurol, 13, 710, 10.1016/S1474-4422(14)70040-7 Parrini, 2016, Genetic basis of brain malformations, Mol Syndromol, 7, 220, 10.1159/000448639 Romero, 2018, Genetics and mechanisms leading to human cortical malformations, Semin Cell Dev Biol, 76, 33, 10.1016/j.semcdb.2017.09.031 Spalice, 2009, Neuronal migration disorders: clinical, neuroradiologic and genetics aspects, Acta Paediatr, 98, 421, 10.1111/j.1651-2227.2008.01160.x Fox, 1999, Periventricular heterotopia and the genetics of neuronal migration in the cerebral cortex, Am J Hum Genet, 65, 19, 10.1086/302474 Parrini, 2006, Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations, Brain, 129, 1892, 10.1093/brain/awl125 Vriend, 2021, Genetic causes underlying grey matter heterotopia, Eur J Paediatr Neurol, 35, 82, 10.1016/j.ejpn.2021.09.015 Oegema, 2019, Subcortical heterotopic gray matter brain malformations: Classification study of 107 individuals, Neurology, 93, e1360, 10.1212/WNL.0000000000008200 Liu, 2018, Gray matter heterotopia, mental retardation, developmental delay, microcephaly, and facial dysmorphisms in a boy with ring chromosome 6: a 10-year follow-up and literature review, Cytogenet Genome Res, 154, 201, 10.1159/000488692 Neuhaus, 2021, Heterotopia in Individuals with 22q11.2 Deletion Syndrome, AJNR Am J Neuroradiol, 42, 2070, 10.3174/ajnr.A7283 Oegema, 2019, EML1-associated brain overgrowth syndrome with ribbon-like heterotopia, Am J Med Genet C Semin Med Genet, 181, 627, 10.1002/ajmg.c.31751 Wetzburger, 1998, Gray matter heterotopia and acute necrotizing encephalopathy in trichothiodystrophy, Pediatr Neurol, 19, 392, 10.1016/S0887-8994(98)00085-X Baas, 2013, Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome, Eur J Hum Genet, 21, 55, 10.1038/ejhg.2012.117 Brunetti-Pierri, 2007, Gray matter heterotopias and brachytelephalangic chondrodysplasia punctata: a complication of hyperemesis gravidarum induced vitamin K deficiency?, Am J Med Genet A, 143A, 200, 10.1002/ajmg.a.31573 Kattuoa ML, M Das J. Lissencephaly. 2021 Jul 9. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan –. PMID: 32809601. Koenig, 2021, Lissencephaly: Update on diagnostics and clinical management, Eur J Paediatr Neurol, 35, 147, 10.1016/j.ejpn.2021.09.013 Chiba, 2021, Clinical and neuroimaging findings in patients with lissencephaly/subcortical band heterotopia spectrum: a magnetic resonance conventional and diffusion tensor study, Neuroradiology Brock S, Dobyns WB, Jansen A. PAFAH1B1-Related Lissencephaly/Subcortical Band Heterotopia. 2009 Mar 3 [Updated 2021 Mar 25]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022. Available at: https://www.ncbi.nlm.nih.gov/books/NBK5189/. Accessed February 20, 2022. Shi, 2021, Prenatal diagnosis of Miller-Dieker syndrome by chromosomal microarray, Ann Hum Genet, 85, 92, 10.1111/ahg.12407 Hehr U, Uyanik G, Aigner L, et al: DCX-Related Disorders. 2007 Oct 19 [updated 2019 Feb 7]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Mirzaa GM, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. PMID: 20301364. Sprugnoli, 2018, Functional connectivity and genetic profile of a "Double-Cortex"-like malformation, Front Integr Neurosci, 12, 22, 10.3389/fnint.2018.00022 Iannetti, 1993, Norman-Roberts syndrome: clinical and molecular studies, Am J Med Genet, 47, 95, 10.1002/ajmg.1320470120 Dobyns, 1984, Syndromes with lissencephaly. I: Miller-Dieker and Norman-Roberts syndromes and isolated lissencephaly, Am J Med Genet, 18, 509, 10.1002/ajmg.1320180320 Dobyns, 2010, The clinical patterns and molecular genetics of lissencephaly and subcortical band heterotopia, Epilepsia, 51, 5, 10.1111/j.1528-1167.2009.02433.x Leventer, 2005, Genotype-phenotype correlation in lissencephaly and subcortical band heterotopia: the key questions answered, J Child Neurol, 20, 307, 10.1177/08830738050200040701 Di Donato, 2017, Lissencephaly: Expanded imaging and clinical classification, Am J Med Genet A, 173, 1473, 10.1002/ajmg.a.38245 Barkovich, 1998, Neuroimaging manifestations and classification of congenital muscular dystrophies, AJNR Am J Neuroradiol, 19, 1389 Barkovich, 1996, Imaging of the cobblestone lissencephalies, AJNR Am J Neuroradiol, 17, 615 Tonni, 2016, Prenatal diagnosis of lissencephaly type 2 using three-dimensional ultrasound and fetal MRI: case report and review of the literature, Rev Bras Ginecol Obstet, 38, 201, 10.1055/s-0036-1582126 Myshrall, 2012, Dystroglycan on radial glia end feet is required for pial basement membrane integrity and columnar organization of the developing cerebral cortex, J Neuropathol Exp Neurol, 71, 1047, 10.1097/NEN.0b013e318274a128 Stroustrup Smith, 2005, Magnetic resonance imaging of the kinked fetal brain stem: a sign of severe dysgenesis, J Ultrasound Med, 24, 1697, 10.7863/jum.2005.24.12.1697 Cecil, 2016, Z-shaped brainstem and other magnetic resonance imaging findings in congenital muscular dystrophy, Neurol India, 64, 577, 10.4103/0028-3886.181580 Jissendi-Tchofo, 2009, Midbrain-hindbrain involvement in lissencephalies, Neurology, 72, 410, 10.1212/01.wnl.0000333256.74903.94 Devisme, 2012, Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies, Brain, 135, 469, 10.1093/brain/awr357 Taniguchi-Ikeda, 2016, Mechanistic aspects of the formation of α-dystroglycan and therapeutic research for the treatment of α-dystroglycanopathy: A review, Mol Aspects Med, 51, 115, 10.1016/j.mam.2016.07.003 Leibovitz, 2018, Walker-Warburg syndrome and tectocerebellar dysraphia: A novel association caused by a homozygous DAG1 mutation, Eur J Paediatr Neurol, 22, 525, 10.1016/j.ejpn.2017.12.012 Aldinger, 2014, Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy, Am J Hum Genet, 95, 227, 10.1016/j.ajhg.2014.07.007 Radner, 2013, β2 and γ3 laminins are critical cortical basement membrane components: ablation of Lamb2 and Lamc3 genes disrupts cortical lamination and produces dysplasia, Dev Neurobiol, 73, 209, 10.1002/dneu.22057 Radmanesh, 2013, Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities, Am J Hum Genet, 92, 468, 10.1016/j.ajhg.2013.02.005 Bahi-Buisson, 2010, GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex, Brain, 133, 3194, 10.1093/brain/awq259 Quattrocchi, 2013, Conventional magnetic resonance imaging and diffusion tensor imaging studies in children with novel GPR56 mutations: further delineation of a cobblestone-like phenotype, Neurogenetics, 14, 77, 10.1007/s10048-012-0352-7 Barkovich, 2010, Current concepts of polymicrogyria, Neuroradiology, 52, 479, 10.1007/s00234-009-0644-2 Mavili, 2012, Polymicrogyria: correlation of magnetic resonance imaging and clinical findings, Childs Nerv Syst, 28, 905, 10.1007/s00381-012-1703-2 Stutterd, 2014, Polymicrogyria: a common and heterogeneous malformation of cortical development, Am J Med Genet C Semin Med Genet, 166C, 227, 10.1002/ajmg.c.31399 Squier, 2014, Polymicrogyria: pathology, fetal origins and mechanisms, Acta Neuropathol Commun, 2, 80, 10.1186/s40478-014-0080-3 Guye, 2019, Malformations of cortical development: The role of 7-Tesla magnetic resonance imaging in diagnosis, Rev Neurol (Paris), 175, 157, 10.1016/j.neurol.2019.01.393 De Ciantis, 2015, Ultra-high-field MR imaging in polymicrogyria and epilepsy, AJNR Am J Neuroradiol, 36, 309, 10.3174/ajnr.A4116 Fink, 2010, Neuroimaging of pediatric central nervous system cytomegalovirus infection, Radiographics, 30, 1779, 10.1148/rg.307105043 Zare Mehrjardi, 2017, Neuroimaging findings of congenital Zika virus infection: a pictorial essay, Jpn J Radiol, 35, 89, 10.1007/s11604-016-0609-4 Mirzaa G, Graham JM Jr, Keppler-Noreuil K. PIK3CA-Related Overgrowth Spectrum. 2013 Aug 15 [Updated 2021 Dec 23]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK153722/. Iriarte Fuster, 2021, PIK3CA-related overgrowth spectrum (PROS): new insight in known diseases, Med Clin (Barc), 157, 483, 10.1016/j.medcli.2021.03.036 Hughes, 2020, PIK3CA vascular overgrowth syndromes: an update, Curr Opin Pediatr, 32, 539, 10.1097/MOP.0000000000000923 Venot, 2021, PIK3CA-related overgrowth spectrum: animal model and drug discovery, C R Biol, 344, 189 Hucthagowder, 2017, Utility of clinical high-depth next generation sequencing for somatic variant detection in the PIK3CA-related overgrowth spectrum, Clin Genet, 91, 79, 10.1111/cge.12819 Mirzaa G, Adam MP, Ardinger HH, Pagon RA, et al: MPPH Syndrome. SeattleWASeattle: University of Washington, 2016 Nov 17 GeneReviews [Internet]1993-2022. Available at: https://www.ncbi.nlm.nih.gov/books/NBK396098/. Accessed February 20, 2022. Ortiz, 2021, Megalencephaly Polymicrogyria Polydactyly Hydrocephalus (MPPH): a case report and review of literature, Cureus, 13, e16132 Bi, 2016, Whole exome sequencing identifies the first STRAD point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE), Am J Med Genet A, 170, 2181, 10.1002/ajmg.a.37727 Alsaif, 2021, Two further cases of polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome, caused by a truncating variant in STRADA, Am J Med Genet A, 185, 604, 10.1002/ajmg.a.61990 Rivière, 2012, De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes, Nat Genet, 44, 934, 10.1038/ng.2331 Bourgon, 2021, Clinical and molecular data in case of prenatal localized overgrowth disorders: major implication of genetic variants in the PI3K-AKT-mTOR signaling pathway, Ultrasound Obstet Gynecol, 10.1002/uog.23909 Blümcke, 2011, The clinicopathologic spectrum of focal cortical dysplasias: a consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission, Epilepsia, 52, 158, 10.1111/j.1528-1167.2010.02777.x Najm, 2018, Review: The international consensus classification of Focal Cortical Dysplasia - a critical update 2018, Neuropathol Appl Neurobiol, 44, 18, 10.1111/nan.12462 Bennett, 2022, Evidence for a dual-pathway, 2-hit genetic model for focal cortical dysplasia and epilepsy, Neurol Genet, 8, e652, 10.1212/NXG.0000000000000652 Lee, 2022, Cortical dysplasia and the mTOR pathway: how the study of human brain tissue has led to insights into epileptogenesis, Int J Mol Sci, 23, 1344, 10.3390/ijms23031344 Bedrosian TA, Miller KE, Grischow OE, et al. Detection of brain somatic variation in epilepsy-associated developmental lesions. medRxiv 2021.12.06.21267079. https://doi.org/10.1101/2021.12.06.21267079. Winawer, 2018, Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy, Ann Neurol, 83, 1133, 10.1002/ana.25243 Bonduelle, 2021, Frequent SLC35A2 brain mosaicism in mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE), Acta Neuropathol Commun, 9, 3, 10.1186/s40478-020-01085-3 Baldassari, 2019, Dissecting the genetic basis of focal cortical dysplasia: a large cohort study, Acta Neuropathol, 138, 885, 10.1007/s00401-019-02061-5 Blümcke, 2021, Toward a better definition of focal cortical dysplasia: An iterative histopathological and genetic agreement trial, Epilepsia, 62, 1416, 10.1111/epi.16899 Barkovich, 1998, Sublobar dysplasia: a new malformation of cortical development, Neurology, 50, 1383, 10.1212/WNL.50.5.1383 Raghavendra, 2017, Sub-lobar dysplasia - A comprehensive evaluation with neuroimaging, magnetoencephalography and histopathology, Epilepsy Behav Case Rep, 9, 22, 10.1016/j.ebcr.2017.11.002 Tuxhorn, 2009, Sublobar dysplasia–A clinicopathologic report after successful epilepsy surgery, Epilepsia, 50, 2652, 10.1111/j.1528-1167.2009.02326.x Klumpp, 2020, Case 284: Posterior quadrantic dysplasia, Radiology, 297, 733, 10.1148/radiol.2020190726 Reghunath, 2020, A journey through formation and malformations of the neo-cortex, Childs Nerv Syst, 36, 27, 10.1007/s00381-019-04429-0 Binarová, 2019, Tubulin: Structure, functions and roles in disease, Cells, 8, 1294, 10.3390/cells8101294 Gonçalves, 2018, Tubulinopathies, Top Magn Reson Imaging, 27, 395, 10.1097/RMR.0000000000000188 Bahi-Buisson, 2014, The wide spectrum of tubulinopathies: what are the key features for the diagnosis?, Brain, 137, 1676, 10.1093/brain/awu082 Mutch, 2016, Disorders of microtubule function in neurons: Imaging correlates, AJNR Am J Neuroradiol, 37, 528, 10.3174/ajnr.A4552 Romaniello, 2018, Tubulin genes and malformations of cortical development, Eur J Med Genet, 61, 744, 10.1016/j.ejmg.2018.07.012 Bahi-Buisson N, Maillard C. Tubulinopathies overview. 2016 Mar 24 [Updated 2021 Sep 16]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022. Available at: https://www.ncbi.nlm.nih.gov/books/NBK350554/. Accessed February 20, 2022.