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microgyria

MedGen UID:
386642
•Concept ID:
C2362742
•
Congenital Abnormality
Synonym: Microgyria
SNOMED CT: Microgyria (4945003)

Definition

A congenital abnormality characterized by the presence of abnormally small convolutions in the brain. It results in mental retardation. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVmicrogyria

Recent clinical studies

Etiology

Endoscopic-Assisted (Through a Mini Craniotomy) Corpus Callosotomy Combined With Anterior, Hippocampal, and Posterior Commissurotomy in Lennox-Gastaut Syndrome: A Pilot Study to Establish Its Safety and Efficacy.
Chandra SP, Kurwale NS, Chibber SS, Banerji J, Dwivedi R, Garg A, Bal C, Tripathi M, Sarkar C, Tripathi M
Neurosurgery 2016 May;78(5):743-51. doi: 10.1227/NEU.0000000000001060. PMID: 26474092
Clinical and radiologic features of unilateral and bilateral schizencephaly in polish pediatric patients.
Kopyta I, Jamroz E, Kluczewska E, Sarecka-Hujar B
J Child Neurol 2014 Apr;29(4):442-9. Epub 2013 Mar 14 doi: 10.1177/0883073813478660. PMID: 23503883
Developmental disruptions and behavioral impairments in rats following in utero RNAi of Dyx1c1.
Threlkeld SW, McClure MM, Bai J, Wang Y, LoTurco JJ, Rosen GD, Fitch RH
Brain Res Bull 2007 Mar 15;71(5):508-14. Epub 2006 Dec 5 doi: 10.1016/j.brainresbull.2006.11.005. PMID: 17259020Free PMC Article
Histological brain alterations following prenatal methamphetamine exposure in rats.
Cui C, Sakata-Haga H, Ohta K, Nishida M, Yashiki M, Sawada K, Fukui Y
Congenit Anom (Kyoto) 2006 Dec;46(4):180-7. doi: 10.1111/j.1741-4520.2006.00126.x. PMID: 17096818
MR of Zellweger syndrome.
Barkovich AJ, Peck WW
AJNR Am J Neuroradiol 1997 Jun-Jul;18(6):1163-70. PMID: 9194444Free PMC Article

Diagnosis

First case of desmosterolosis diagnosed by prenatal whole exome sequencing.
Hill C, Noureldein M, Karkhanis P, Kinning E, Vijay S, Gowda H
Am J Med Genet A 2023 Mar;191(3):859-863. Epub 2022 Dec 20 doi: 10.1002/ajmg.a.63083. PMID: 36538928
Recurrent venous thrombosis under rivaroxaban and carbamazepine for symptomatic epilepsy.
Stöllberger C, Finsterer J
Neurol Neurochir Pol 2017 Mar-Apr;51(2):194-196. Epub 2017 Feb 3 doi: 10.1016/j.pjnns.2017.01.010. PMID: 28215696
Endoscopic-Assisted (Through a Mini Craniotomy) Corpus Callosotomy Combined With Anterior, Hippocampal, and Posterior Commissurotomy in Lennox-Gastaut Syndrome: A Pilot Study to Establish Its Safety and Efficacy.
Chandra SP, Kurwale NS, Chibber SS, Banerji J, Dwivedi R, Garg A, Bal C, Tripathi M, Sarkar C, Tripathi M
Neurosurgery 2016 May;78(5):743-51. doi: 10.1227/NEU.0000000000001060. PMID: 26474092
Clinical and radiologic features of unilateral and bilateral schizencephaly in polish pediatric patients.
Kopyta I, Jamroz E, Kluczewska E, Sarecka-Hujar B
J Child Neurol 2014 Apr;29(4):442-9. Epub 2013 Mar 14 doi: 10.1177/0883073813478660. PMID: 23503883
MR of Zellweger syndrome.
Barkovich AJ, Peck WW
AJNR Am J Neuroradiol 1997 Jun-Jul;18(6):1163-70. PMID: 9194444Free PMC Article

Therapy

Recurrent venous thrombosis under rivaroxaban and carbamazepine for symptomatic epilepsy.
Stöllberger C, Finsterer J
Neurol Neurochir Pol 2017 Mar-Apr;51(2):194-196. Epub 2017 Feb 3 doi: 10.1016/j.pjnns.2017.01.010. PMID: 28215696
Early acoustic discrimination experience ameliorates auditory processing deficits in male rats with cortical developmental disruption.
Threlkeld SW, Hill CA, Rosen GD, Fitch RH
Int J Dev Neurosci 2009 Jun;27(4):321-8. Epub 2009 Apr 1 doi: 10.1016/j.ijdevneu.2009.03.007. PMID: 19460626Free PMC Article
Histological brain alterations following prenatal methamphetamine exposure in rats.
Cui C, Sakata-Haga H, Ohta K, Nishida M, Yashiki M, Sawada K, Fukui Y
Congenit Anom (Kyoto) 2006 Dec;46(4):180-7. doi: 10.1111/j.1741-4520.2006.00126.x. PMID: 17096818

Prognosis

Clinical and radiologic features of unilateral and bilateral schizencephaly in polish pediatric patients.
Kopyta I, Jamroz E, Kluczewska E, Sarecka-Hujar B
J Child Neurol 2014 Apr;29(4):442-9. Epub 2013 Mar 14 doi: 10.1177/0883073813478660. PMID: 23503883
Bilateral periventricular heterotopias in an X-linked dominant transmission in a family with two affected males.
Gérard-Blanluet M, Sheen V, Machinis K, Neal J, Apse K, Danan C, Sinico M, Brugières P, Mage K, Ratsimbazafy L, Elbez A, Janaud JC, Amselem S, Walsh C, Encha-Razavi F
Am J Med Genet A 2006 May 15;140(10):1041-6. doi: 10.1002/ajmg.a.31197. PMID: 16596669
I-cell disease. A case report and review of the literature.
Güngör N, Coşkun T, Akçören Z, Cağlar M
Turk J Pediatr 1994 Apr-Jun;36(2):145-52. PMID: 8016916

Clinical prediction guides

Identification of a novel variant in GPR56/ADGRG1 gene through whole exome sequencing in a consanguineous Pakistani family.
Zulfiqar S, Tariq M, Ramzan S, Khan A, Sher M, Ali Z, Dahl N, Abdullah U, Mahmood Baig S
J Clin Neurosci 2021 Dec;94:8-12. Epub 2021 Sep 30 doi: 10.1016/j.jocn.2021.09.027. PMID: 34863467
Endoscopic-Assisted (Through a Mini Craniotomy) Corpus Callosotomy Combined With Anterior, Hippocampal, and Posterior Commissurotomy in Lennox-Gastaut Syndrome: A Pilot Study to Establish Its Safety and Efficacy.
Chandra SP, Kurwale NS, Chibber SS, Banerji J, Dwivedi R, Garg A, Bal C, Tripathi M, Sarkar C, Tripathi M
Neurosurgery 2016 May;78(5):743-51. doi: 10.1227/NEU.0000000000001060. PMID: 26474092
Shaken infant syndrome: developmental neuropathology, progressive cortical dysplasia, and epilepsy.
Marín-Padilla M, Parisi JE, Armstrong DL, Sargent SK, Kaplan JA
Acta Neuropathol 2002 Apr;103(4):321-32. Epub 2001 Nov 21 doi: 10.1007/s00401-001-0470-z. PMID: 11904751
Mechanisms underlying epileptogenesis in cortical malformations.
Jacobs KM, Kharazia VN, Prince DA
Epilepsy Res 1999 Sep;36(2-3):165-88. doi: 10.1016/s0920-1211(99)00050-9. PMID: 10515164
Excitability changes in freeze-induced neocortical microgyria.
Hablitz JJ, DeFazio T
Epilepsy Res 1998 Sep;32(1-2):75-82. doi: 10.1016/s0920-1211(98)00041-2. PMID: 9761310

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