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Unilateral polymicrogyria

MedGen UID:
870513
Concept ID:
C4024960
Disease or Syndrome
Synonym: unilateral polymicrogyria
SNOMED CT: Unilateral polymicrogyria (715905006)
 
HPO: HP:0006927
Monarch Initiative: MONDO:0017092
Orphanet: ORPHA268943

Definition

Excessive number of small gyri (convolutions) on the surface of one side of the brain. [from HPO]

Conditions with this feature

Complex cortical dysplasia with other brain malformations 7
MedGen UID:
765150
Concept ID:
C3552236
Disease or Syndrome
Complex cortical dysplasia with other brain malformations-7 is an autosomal dominant, clinically heterogeneous disorder showing a wide spectrum of abnormalities of cortical brain development. The most severely affected patients are fetuses with microlissencephaly, absence of the cortical plate, agenesis of the corpus callosum, and severely hypoplastic brainstem and cerebellum. Other patients have lissencephaly, polymicrogyria, cortical dysplasia, or neuronal heterotopia. Those with less severe malformations can survive, but usually have some degree of neurologic impairment, such as mental retardation, seizures, and movement abnormalities (summary by Chang et al., 2006; Fallet-Bianco et al., 2014). For a discussion of genetic heterogeneity of CDCBM, see CDCBM1 (614039).

Professional guidelines

PubMed

Wu P, Liu Q, Liu X, Sun Y, Zhang J, Wang R, Ji T, Wang S, Liu X, Jiang Y, Cai L, Wu Y
Epilepsia Open 2024 Aug;9(4):1480-1492. Epub 2024 Jun 19 doi: 10.1002/epi4.12988. PMID: 38898786Free PMC Article

Recent clinical studies

Therapy

Wu P, Liu Q, Liu X, Sun Y, Zhang J, Wang R, Ji T, Wang S, Liu X, Jiang Y, Cai L, Wu Y
Epilepsia Open 2024 Aug;9(4):1480-1492. Epub 2024 Jun 19 doi: 10.1002/epi4.12988. PMID: 38898786Free PMC Article
Caraballo RH, Reyes G, Falsaperla R, Ramos B, Ruiz AC, Fernandez CA, Peretti G, Beltran L
Seizure 2016 Feb;35:88-92. Epub 2016 Jan 15 doi: 10.1016/j.seizure.2016.01.012. PMID: 26803282
Fortini S, Corredera L, Pastrana AL, Reyes G, Fasulo L, Caraballo RH
Seizure 2013 Sep;22(7):565-71. Epub 2013 May 2 doi: 10.1016/j.seizure.2013.04.006. PMID: 23642405
Fejerman N, Caraballo R, Cersósimo R, Ferraro SM, Galicchio S, Amartino H
Epilepsia 2012 Jul;53(7):1156-61. Epub 2012 Apr 17 doi: 10.1111/j.1528-1167.2012.03458.x. PMID: 22509732
Bast T, Ramantani G, Boppel T, Metzke T, Ozkan O, Stippich C, Seitz A, Rupp A, Rating D, Scherg M
Neuroimage 2005 May 1;25(4):1232-41. doi: 10.1016/j.neuroimage.2004.12.059. PMID: 15850741

Prognosis

Foesleitner O, Nenning KH, Traub-Weidinger T, Feucht M, Bonelli S, Czech T, Dorfer C, Prayer D, Kasprian G
AJNR Am J Neuroradiol 2018 Aug;39(8):1530-1535. Epub 2018 Jun 28 doi: 10.3174/ajnr.A5715. PMID: 29954815Free PMC Article
Caraballo RH, Cersósimo RO, Fortini PS, Ornella L, Buompadre MC, Vilte C, Princich JP, Fejerman N
Epileptic Disord 2013 Dec;15(4):417-27. doi: 10.1684/epd.2013.0612. PMID: 24184770
Mavili E, Coskun A, Per H, Donmez H, Kumandas S, Yikilmaz A
Childs Nerv Syst 2012 Jun;28(6):905-9. doi: 10.1007/s00381-012-1703-2. PMID: 22286201
Caraballo RH, Cersósimo RO, Fejerman N
Brain Dev 2004 Apr;26(3):151-7. doi: 10.1016/S0387-7604(03)00113-X. PMID: 15030902
Caraballo R, Cersósimo R, Fejerman N
Epilepsia 1999 Jul;40(7):865-71. doi: 10.1111/j.1528-1157.1999.tb00792.x. PMID: 10403209

Clinical prediction guides

Foesleitner O, Nenning KH, Traub-Weidinger T, Feucht M, Bonelli S, Czech T, Dorfer C, Prayer D, Kasprian G
AJNR Am J Neuroradiol 2018 Aug;39(8):1530-1535. Epub 2018 Jun 28 doi: 10.3174/ajnr.A5715. PMID: 29954815Free PMC Article
Mavili E, Coskun A, Per H, Donmez H, Kumandas S, Yikilmaz A
Childs Nerv Syst 2012 Jun;28(6):905-9. doi: 10.1007/s00381-012-1703-2. PMID: 22286201
Passemard S, Titomanlio L, Elmaleh M, Afenjar A, Alessandri JL, Andria G, de Villemeur TB, Boespflug-Tanguy O, Burglen L, Del Giudice E, Guimiot F, Hyon C, Isidor B, Mégarbané A, Moog U, Odent S, Hernandez K, Pouvreau N, Scala I, Schaer M, Gressens P, Gerard B, Verloes A
Neurology 2009 Sep 22;73(12):962-9. doi: 10.1212/WNL.0b013e3181b8799a. PMID: 19770472
Pascual-Castroviejo I, Pascual-Pascual SI, Viaño J, Martinez V, Palencia R
Brain Dev 2001 Jul;23(4):216-22. doi: 10.1016/s0387-7604(01)00211-x. PMID: 11376999
Caraballo R, Cersósimo R, Fejerman N
Epilepsia 1999 Jul;40(7):865-71. doi: 10.1111/j.1528-1157.1999.tb00792.x. PMID: 10403209

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