Schizencephaly

التفاصيل البيبلوغرافية
العنوان: Schizencephaly
المؤلفون: Veerapaneni P; University of Arkansas Medical Sciences, Veerapaneni KD; University of Arkansas Medical Sciences, Yadala S; University of Arkansas for Medical Sciences
المصدر: 2022 Jan.
المصدر: In: StatPearls
نوع المنشور: Study Guide
اللغة: English
بيانات الدورية: Publisher: StatPearls Publishing Cited Medium: Internet
أسماء مطبوعة: Treasure Island (FL) : StatPearls Publishing
مستخلص: Schizencephaly is a rare congenital neuronal migration disorder characterized by the presence of a full-thickness cleft, lined with heterotopic gray matter and filled with cerebrospinal fluid (CSF), which connects the pial surface of the cerebral hemisphere with the ependymal surface of the lateral ventricle. Schizencephaly was first described by Wilmarth in 1887. The term was coined from the Greek word "schizen" 'to divide' and introduced by Yakovlev and Wadsworth in 1946, based on their work on cadavers, that classified schizencephaly into two types. These are: Type I (closed-lip): Cleft is fused, preventing CSF passage. Type II (open-lip): A cleft is present, which permits CSF to pass between the ventricular cavity and subarachnoid space. Schizencephaly can be either unilateral or bilateral and has a prevalence of 1.48 per 100,000 live births. Recent literature classifies schizencephaly into three types, as the full-thickness cleft containing CSF is not mandatory for the definition. Type 1 (trans-mantle): No CSF-containing cleft on magnetic resonance imaging (MRI), but contains a trans-mantle column of abnormal gray matter. Type 2 (closed-lip): Presence of cleft containing CSF, but the lining lips of abnormal gray matter are abutting and opposed to each other. Type 3 (open-lip): Presence of cleft containing CSF. The lining lips of abnormal gray matter are not abutting each other.
(Copyright © 2022, StatPearls Publishing LLC.)
References: Tanwir A, Bukhari S, Shamim MS. Frontoethmoidal encephalocele presenting in concert with schizencephaly. Surg Neurol Int. 2018;9:246. (PMID: PMC629360130603230)
Hung PC, Wang HS, Chou ML, Lin KL, Hsieh MY, Chou IJ, Wong AM. Schizencephaly in children: A single medical center retrospective study. Pediatr Neonatol. 2018 Dec;59(6):573-580. (PMID: 29371079)
YAKOVLEV PI, WADSWORTH RC. Schizencephalies; a study of the congenital clefts in the cerebral mantle; clefts with fused lips. J Neuropathol Exp Neurol. 1946 Apr;5:116-30. (PMID: 21026933)
Howe DT, Rankin J, Draper ES. Schizencephaly prevalence, prenatal diagnosis and clues to etiology: a register-based study. Ultrasound Obstet Gynecol. 2012 Jan;39(1):75-82. (PMID: 21647999)
Griffiths PD. Schizencephaly revisited. Neuroradiology. 2018 Sep;60(9):945-960. (PMID: PMC609684230027296)
Gonzalez JC, Singhapakdi K, Martino AM, Rimawi BH, Bhat R. Unilateral Open-lip Schizencephaly with Tonsillar Herniation in a Preterm Infant. J Pediatr Neurosci. 2019 Oct-Dec;14(4):225-227. (PMID: PMC693598831908665)
Dies KA, Bodell A, Hisama FM, Guo CY, Barry B, Chang BS, Barkovich AJ, Walsh CA. Schizencephaly: association with young maternal age, alcohol use, and lack of prenatal care. J Child Neurol. 2013 Feb;28(2):198-203. (PMID: PMC387641223266945)
Harada T, Uegaki T, Arata K, Tsunetou T, Taniguchi F, Harada T. Schizencephaly and Porencephaly Due to Fetal Intracranial Hemorrhage: A Report of Two Cases. Yonago Acta Med. 2017 Dec;60(4):241-245. (PMID: PMC580316129434494)
Brunelli S, Faiella A, Capra V, Nigro V, Simeone A, Cama A, Boncinelli E. Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly. Nat Genet. 1996 Jan;12(1):94-6. (PMID: 8528262)
Hehr U, Pineda-Alvarez DE, Uyanik G, Hu P, Zhou N, Hehr A, Schell-Apacik C, Altus C, Daumer-Haas C, Meiner A, Steuernagel P, Roessler E, Winkler J, Muenke M. Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly. Hum Genet. 2010 Mar;127(5):555-61. (PMID: PMC410118720157829)
Rege SV, Patil H. Bilateral giant open-lip schizencephaly: A rare case report. J Pediatr Neurosci. 2016 Apr-Jun;11(2):128-30. (PMID: PMC499115427606022)
Halabuda A, Klasa L, Kwiatkowski S, Wyrobek L, Milczarek O, Gergont A. Schizencephaly-diagnostics and clinical dilemmas. Childs Nerv Syst. 2015 Apr;31(4):551-6. (PMID: PMC435971325690450)
YAKOVLEV PI, WADSWORTH RC. Schizencephalies; a study of the congenital clefts in the cerebral mantle; clefts with hydrocephalus and lips separated. J Neuropathol Exp Neurol. 1946 Jul;5(3):169-206. (PMID: 20993391)
Eller KM, Kuller JA. Fetal porencephaly: a review of etiology, diagnosis, and prognosis. Obstet Gynecol Surv. 1995 Sep;50(9):684-7. (PMID: 7478420)
Raybaud C, Girard N, Lévrier O, Peretti-Viton P, Manera L, Farnarier P. Schizencephaly: correlation between the lobar topography of the cleft(s) and absence of the septum pellucidum. Childs Nerv Syst. 2001 Apr;17(4-5):217-22. (PMID: 11398940)
Denis D, Chateil JF, Brun M, Brissaud O, Lacombe D, Fontan D, Flurin V, Pedespan J. Schizencephaly: clinical and imaging features in 30 infantile cases. Brain Dev. 2000 Dec;22(8):475-83. (PMID: 11111060)
Patwal R, Pai NM, Ganjekar S, Arshad F, Alladi S, Sharma MK, Desai G, Chaturvedi SK. Schizencephaly and the Neurodevelopmental Model of Psychosis. Neurol India. 2022 Mar-Apr;70(2):740-743. (PMID: 35532651)
Kamble V, Lahoti AM, Dhok A, Taori A, Pajnigara N. A rare case of schizencephaly in an adult with late presentation. J Family Med Prim Care. 2017 Apr-Jun;6(2):450-452. (PMID: PMC574910629302567)
Yoon JY, Kim DS, Kim GW, Ko MH, Seo JH, Won YH, Park SH. Motor Organization in Schizencephaly: Outcomes of Transcranial Magnetic Stimulation and Diffusion Tensor Imaging of Motor Tract Projections Correlate with the Different Domains of Hand Function. Biomed Res Int. 2021;2021:9956609. (PMID: PMC843763834527746)
Rios LT, Araujo Júnior E, Nardozza LM, Caetano AC, Moron AF, Martins Mda G. Prenatal and Postnatal Schizencephaly Findings by 2D and 3D Ultrasound: Pictorial Essay. J Clin Imaging Sci. 2012;2:30. (PMID: PMC338550422754744)
Bhatnagar S, Kuber R, Shah D, Kulkarni V. Unilateral closed lip schizencephaly with septo-optic dysplasia. Ann Med Health Sci Res. 2014 Mar;4(2):283-5. (PMID: PMC399195724761255)
Watanabe J, Okamoto K, Ohashi T, Natsumeda M, Hasegawa H, Oishi M, Miyatake S, Matsumoto N, Fujii Y. Malignant Hyperthermia and Cerebral Venous Sinus Thrombosis After Ventriculoperitoneal Shunt in Infant with Schizencephaly and COL4A1 Mutation. World Neurosurg. 2019 Jul;127:446-450. (PMID: 31029817)
Senol U, Karaali K, Aktekin B, Yilmaz S, Sindel T. Dizygotic twins with schizencephaly and focal cortical dysplasia. AJNR Am J Neuroradiol. 2000 Sep;21(8):1520-1. (PMID: PMC797404211003289)
Kim HJ, Koo YS, Yum MS, Ko TS, Lee SA. Cleft size and type are associated with development of epilepsy and poor seizure control in patients with schizencephaly. Seizure. 2022 May;98:95-100. (PMID: 35462301)
Şah O, Türkdoğan D, Küçük S, Takış G, Asadov R, Öztürk G, Ünver O, Ekinci G. Neurodevelopmental Findings and Epilepsy in Malformations of Cortical Development. Turk Arch Pediatr. 2021 Jul;56(4):356-365. (PMID: PMC865596535005731)
Park SH, Kim TJ, Ko SB. Super-refractory status epilepticus in a pregnant woman with schizencephaly. Epileptic Disord. 2021 Jun 01;23(3):523-526. (PMID: 34080976)
Jordan RD, Coscia M, Lantz P, Harrison W. Sudden Unexpected Death in Epilepsy: A Report of Three Commonly Encountered Anatomic Findings in the Forensic Setting With Recommendations for Best Practices. Am J Forensic Med Pathol. 2022 Sep 01;43(3):259-262. (PMID: 35642769)
Battah A, DaCosta TR, Shanker E, Dacosta TJ, Farouji I. Schizencephaly as an Unusual Cause of Adult-Onset Epilepsy: A Case Report. Cureus. 2022 Jun;14(6):e25848. (PMID: PMC927317435836438)
تواريخ الأحداث: Date Created: 20221014
رمز التحديث: 20240629
PMID: 32809748
Book AN: NBK560913
قاعدة البيانات: MEDLINE