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Bilateral polymicrogyria

MedGen UID:
1647593
•Concept ID:
C4707565
•
Congenital Abnormality
Synonym: bilateral polymicrogyria
SNOMED CT: Bilateral polymicrogyria (765757003)
 
HPO: HP:0025646
Monarch Initiative: MONDO:0017091
Orphanet: ORPHA268940

Definition

Polymicrogyria that affects all or some of both cerebral hemispheres. [from HPO]

Conditions with this feature

SIN3A-related intellectual disability syndrome due to a point mutation
MedGen UID:
934771
•Concept ID:
C4310804
•
Disease or Syndrome
Witteveen-Kolk syndrome (WITKOS) is an autosomal dominant disorder with characteristic distinctive facial features, microcephaly, short stature, and mildly impaired intellectual development with delayed cognitive and motor development and subtle anomalies on MRI-brain imaging (summary by Balasubramanian et al., 2021).
See: Condition Record
SIN3A-related intellectual disability syndrome due to a point mutation

Professional guidelines

PubMed

Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes.
Piao X, Chang BS, Bodell A, Woods K, Benzeev B, Topcu M, Guerrini R, Goldberg-Stern H, Sztriha L, Dobyns WB, Barkovich AJ, Walsh CA
Ann Neurol 2005 Nov;58(5):680-7. doi: 10.1002/ana.20616. PMID: 16240336
Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing.
Guerrini R, Carrozzo R
Seizure 2002 Apr;11 Suppl A:532-43; quiz 544-7. PMID: 12185771
Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing.
Guerrini R, Carrozzo R
Seizure 2001 Oct;10(7):532-43; quiz 544-7. doi: 10.1053/seiz.2001.0650. PMID: 11749114

Recent clinical studies

Etiology

Diverse genetic causes of polymicrogyria with epilepsy.
Epilepsy Phenome/Genome Project, Epi4K Consortium
Epilepsia 2021 Apr;62(4):973-983. Epub 2021 Apr 5 doi: 10.1111/epi.16854. PMID: 33818783Free PMC Article
Speech, Language, and Oromotor Skills in Patients With Polymicrogyria.
Braden RO, Boyce JO, Stutterd CA, Pope K, Goel H, Leventer RJ, Scheffer IE, Morgan AT
Neurology 2021 Apr 6;96(14):e1898-e1912. Epub 2021 Feb 15 doi: 10.1212/WNL.0000000000011698. PMID: 33589534
Vagus nerve stimulation might have a unique effect in reflex eating seizures.
Cukiert A, Mariani PP, Burattini JA, Cukiert CM, Forster C, Baise C, Argentoni-Baldochi M, Mello V
Epilepsia 2010 Feb;51(2):301-3. Epub 2009 Sep 22 doi: 10.1111/j.1528-1167.2009.02278.x. PMID: 19780799
Treatment of epilepsy in severely disabled children with bilateral brain malformations.
Saito Y, Sugai K, Nakagawa E, Sakuma H, Komaki H, Sasaki M, Maegaki Y, Ohno K, Sato N, Kaneko Y, Otsuki T
J Neurol Sci 2009 Feb 15;277(1-2):37-49. Epub 2008 Nov 26 doi: 10.1016/j.jns.2008.10.009. PMID: 19036389
Bilateral focal polymicrogyria in Ehlers-Danlos syndrome.
Echaniz-Laguna A, de Saint-Martin A, Lafontaine AL, Tasch E, Thomas P, Hirsh E, Marescaux C, Andermann F
Arch Neurol 2000 Jan;57(1):123-7. doi: 10.1001/archneur.57.1.123. PMID: 10634459

Diagnosis

Diverse genetic causes of polymicrogyria with epilepsy.
Epilepsy Phenome/Genome Project, Epi4K Consortium
Epilepsia 2021 Apr;62(4):973-983. Epub 2021 Apr 5 doi: 10.1111/epi.16854. PMID: 33818783Free PMC Article
Bilateral polymicrogyria associated with dystonia: A new neurogenetic syndrome?
Andelman-Gur MM, Leventer RJ, Hujirat M, Ganos C, Yosovich K, Carmi N, Lev D, Nissenkorn A, Dobyns WB, Bhatia K, Lerman-Sagie T, Blumkin L
Am J Med Genet A 2020 Oct;182(10):2207-2213. Epub 2020 Aug 17 doi: 10.1002/ajmg.a.61795. PMID: 33001581
Vagus nerve stimulation might have a unique effect in reflex eating seizures.
Cukiert A, Mariani PP, Burattini JA, Cukiert CM, Forster C, Baise C, Argentoni-Baldochi M, Mello V
Epilepsia 2010 Feb;51(2):301-3. Epub 2009 Sep 22 doi: 10.1111/j.1528-1167.2009.02278.x. PMID: 19780799
Bilateral generalized polymicrogyria (BGP): a distinct syndrome of cortical malformation.
Chang BS, Piao X, Giannini C, Cascino GD, Scheffer I, Woods CG, Topcu M, Tezcan K, Bodell A, Leventer RJ, Barkovich AJ, Grant PE, Walsh CA
Neurology 2004 May 25;62(10):1722-8. doi: 10.1212/01.wnl.0000125187.52952.e9. PMID: 15159468
Bilateral focal polymicrogyria in Ehlers-Danlos syndrome.
Echaniz-Laguna A, de Saint-Martin A, Lafontaine AL, Tasch E, Thomas P, Hirsh E, Marescaux C, Andermann F
Arch Neurol 2000 Jan;57(1):123-7. doi: 10.1001/archneur.57.1.123. PMID: 10634459

Therapy

White matter spongiosis with vigabatrin therapy for infantile spasms.
Pearl PL, Poduri A, Prabhu SP, Harini C, Goldstein R, Atkinson RM, Armstrong D, Kinney H
Epilepsia 2018 Apr;59(4):e40-e44. Epub 2018 Feb 23 doi: 10.1111/epi.14032. PMID: 29473152
Vagus nerve stimulation might have a unique effect in reflex eating seizures.
Cukiert A, Mariani PP, Burattini JA, Cukiert CM, Forster C, Baise C, Argentoni-Baldochi M, Mello V
Epilepsia 2010 Feb;51(2):301-3. Epub 2009 Sep 22 doi: 10.1111/j.1528-1167.2009.02278.x. PMID: 19780799
Treatment of epilepsy in severely disabled children with bilateral brain malformations.
Saito Y, Sugai K, Nakagawa E, Sakuma H, Komaki H, Sasaki M, Maegaki Y, Ohno K, Sato N, Kaneko Y, Otsuki T
J Neurol Sci 2009 Feb 15;277(1-2):37-49. Epub 2008 Nov 26 doi: 10.1016/j.jns.2008.10.009. PMID: 19036389

Prognosis

White matter spongiosis with vigabatrin therapy for infantile spasms.
Pearl PL, Poduri A, Prabhu SP, Harini C, Goldstein R, Atkinson RM, Armstrong D, Kinney H
Epilepsia 2018 Apr;59(4):e40-e44. Epub 2018 Feb 23 doi: 10.1111/epi.14032. PMID: 29473152
Bilateral polymicrogyria as the indicative feature in a child with a 22q11.2 deletion.
Gerkes EH, Hordijk R, Dijkhuizen T, Sival DA, Meiners LC, Sikkema-Raddatz B, van Ravenswaaij-Arts CM
Eur J Med Genet 2010 Sep-Oct;53(5):344-6. Epub 2010 May 27 doi: 10.1016/j.ejmg.2010.05.003. PMID: 20553986
Vagus nerve stimulation might have a unique effect in reflex eating seizures.
Cukiert A, Mariani PP, Burattini JA, Cukiert CM, Forster C, Baise C, Argentoni-Baldochi M, Mello V
Epilepsia 2010 Feb;51(2):301-3. Epub 2009 Sep 22 doi: 10.1111/j.1528-1167.2009.02278.x. PMID: 19780799
Bilateral generalized polymicrogyria (BGP): a distinct syndrome of cortical malformation.
Chang BS, Piao X, Giannini C, Cascino GD, Scheffer I, Woods CG, Topcu M, Tezcan K, Bodell A, Leventer RJ, Barkovich AJ, Grant PE, Walsh CA
Neurology 2004 May 25;62(10):1722-8. doi: 10.1212/01.wnl.0000125187.52952.e9. PMID: 15159468
Late-onset epilepsy associated with regional brain cortical dysplasia.
Bartolomei F, Gavaret M, Dravet C, Guye M, Bally-Berard JY, Genton P, Raybaud C, Régis J, Gastaut JL
Eur Neurol 1999 Jul;42(1):11-6. doi: 10.1159/000008062. PMID: 10394042

Clinical prediction guides

Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria.
Ververi A, Zagaglia S, Menzies L, Baptista J, Caswell R, Baulac S, Ellard S, Lynch S; Genomics England Research Consortium, Jacques TS, Chawla MS, Heier M, Kulseth MA, Mero IL, Våtevik AK, Kraoua I, Ben Rhouma H, Ben Younes T, Miladi Z, Ben Youssef Turki I, Jones WD, Clement E, Eltze C, Mankad K, Merve A, Parker J, Hoskins B, Pressler R, Sudhakar S, DeVile C, Homfray T, Kaliakatsos M; Ponnudas (Prab) Prabhakar, Robinson R, Keim SMB, Habibi I, Reymond A, Sisodiya SM, Hurst JA
Hum Mol Genet 2023 Jan 27;32(4):580-594. doi: 10.1093/hmg/ddac225. PMID: 36067010Free PMC Article
Bilateral polymicrogyria associated with dystonia: A new neurogenetic syndrome?
Andelman-Gur MM, Leventer RJ, Hujirat M, Ganos C, Yosovich K, Carmi N, Lev D, Nissenkorn A, Dobyns WB, Bhatia K, Lerman-Sagie T, Blumkin L
Am J Med Genet A 2020 Oct;182(10):2207-2213. Epub 2020 Aug 17 doi: 10.1002/ajmg.a.61795. PMID: 33001581
Further refinement of COL4A1 and COL4A2 related cortical malformations.
Cavallin M, Mine M, Philbert M, Boddaert N, Lepage JM, Coste T, Lopez-Gonzalez V, Sanchez-Soler MJ, Ballesta-Martínez MJ, Remerand G, Pasquier L, Guët A, Chelly J, Lascelles K, Prieto-Morin C, Kossorotoff M, Tournier Lasserve E, Bahi-Buisson N
Eur J Med Genet 2018 Dec;61(12):765-772. Epub 2018 Oct 11 doi: 10.1016/j.ejmg.2018.10.004. PMID: 30315939
Compound heterozygosity in GPR56 with bilateral frontoparietal polymicrogyria.
Fujii Y, Ishikawa N, Kobayashi Y, Kobayashi M, Kato M
Brain Dev 2014 Jun;36(6):528-31. Epub 2013 Aug 24 doi: 10.1016/j.braindev.2013.07.015. PMID: 23981349

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