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Pachygyria

MedGen UID:
504794
Concept ID:
CN001193
Finding
Synonyms: Cerebral pachygyria
 

Definition

A congenital abnormality of the cerebral hemisphere chacterized by unusually thick gyrations (convolutions) of the cerebral cortex. [from HPO]

Recent clinical studies

Etiology

Di Donato N, Jean YY, Maga AM, Krewson BD, Shupp AB, Avrutsky MI, Roy A, Collins S, Olds C, Willert RA, Czaja AM, Johnson R, Stover JA, Gottlieb S, Bartholdi D, Rauch A, Goldstein A, Boyd-Kyle V, Aldinger KA, Mirzaa GM, Nissen A, Brigatti KW, Puffenberger EG, Millen KJ, Strauss KA, Dobyns WB, Troy CM, Jinks RN
Am J Hum Genet 2016 Nov 3;99(5):1117-1129. Epub 2016 Oct 20 doi: 10.1016/j.ajhg.2016.09.010. PMID: 27773430Free PMC Article
Urquhart JE, Beaman G, Byers H, Roberts NA, Chervinsky E, O'Sullivan J, Pilz D, Fry A, Williams SG, Bhaskar SS, Khayat M, Simanovsky N, Shachar IB, Shalev SA, Newman WG
Clin Genet 2016 Jun;89(6):724-7. Epub 2016 Feb 3 doi: 10.1111/cge.12734. PMID: 26757254
Bahi-Buisson N, Poirier K, Fourniol F, Saillour Y, Valence S, Lebrun N, Hully M, Bianco CF, Boddaert N, Elie C, Lascelles K, Souville I; LIS-Tubulinopathies Consortium., Beldjord C, Chelly J
Brain 2014 Jun;137(Pt 6):1676-700. doi: 10.1093/brain/awu082. PMID: 24860126
Kolb LE, Arlier Z, Yalcinkaya C, Ozturk AK, Moliterno JA, Erturk O, Bayrakli F, Korkmaz B, DiLuna ML, Yasuno K, Bilguvar K, Ozcelik T, Tuysuz B, State MW, Gunel M
Neurogenetics 2010 Jul;11(3):319-25. Epub 2010 Jan 15 doi: 10.1007/s10048-009-0232-y. PMID: 20082205
Kurul S, Cakmakçi H, Dirik E
Pediatr Neurol 2004 Jan;30(1):16-23. PMID: 14738944

Diagnosis

Avela K, Toiviainen-Salo S, Karttunen-Lewandowski P, Kauria L, Valanne L, Salonen-Kajander R
Eur J Med Genet 2012 Dec;55(12):753-7. Epub 2012 Sep 27 doi: 10.1016/j.ejmg.2012.09.007. PMID: 23022981
Kao YC, Peng SS, Weng WC, Lin MI, Lee WT
J Child Neurol 2011 Apr;26(4):433-9. Epub 2010 Oct 6 doi: 10.1177/0883073810382452. PMID: 20929906
Lawrence KM, Mei D, Newton MR, Leventer RJ, Guerrini R, Berkovic SF
Epilepsia 2010 Sep;51(9):1902-5. doi: 10.1111/j.1528-1167.2010.02694.x. PMID: 20726879
Kolb LE, Arlier Z, Yalcinkaya C, Ozturk AK, Moliterno JA, Erturk O, Bayrakli F, Korkmaz B, DiLuna ML, Yasuno K, Bilguvar K, Ozcelik T, Tuysuz B, State MW, Gunel M
Neurogenetics 2010 Jul;11(3):319-25. Epub 2010 Jan 15 doi: 10.1007/s10048-009-0232-y. PMID: 20082205
Mineyko A, Doja A, Hurteau J, Dobyns WB, Das S, Boycott KM
J Child Neurol 2010 Jun;25(6):738-41. Epub 2009 Oct 6 doi: 10.1177/0883073809343312. PMID: 19808989

Therapy

Hizem Y, Gargouri A, Ben Djebara M, Kacem I, Abdelkefi I, Jemli F, Gouider R
Neurol Sci 2012 Jun;33(3):631-3. Epub 2011 Sep 20 doi: 10.1007/s10072-011-0780-4. PMID: 21932090
Chiron C, Nabbout R, Pinton F, Nuttin C, Dulac O, Syrota A
Epilepsy Res 1996 Jun;24(2):109-17. PMID: 8796359
Gomez-Anson B, Ramsey RG
J Comput Assist Tomogr 1994 Jul-Aug;18(4):637-9. PMID: 8040452
Mori K, Hashimoto T, Tayama M, Miyazaki M, Fukuda K, Endo S, Kuroda Y
Brain Dev 1994 Sep-Oct;16(5):365-73. PMID: 7892955
Fábregues I, Ferrer I, Cusi MV, Bugie C, Fernandez-Alvarez E, Feijóo I
Brain Dev 1984;6(3):317-22. PMID: 6486379

Prognosis

Guerra MP, Hrachovy RA, Lugli L, Mizrahi EM, Ferrari F
Eur J Paediatr Neurol 2007 Sep;11(5):318-21. Epub 2007 Apr 6 doi: 10.1016/j.ejpn.2007.02.004. PMID: 17412623
Kurul S, Cakmakçi H, Dirik E
Pediatr Neurol 2004 Jan;30(1):16-23. PMID: 14738944
Liang JS, Lee WT, Young C, Peng SS, Shen YZ
Pediatr Neurol 2002 Sep;27(3):171-6. PMID: 12393126
Sztriha L, Al-Gazali L, Dawodu A, Bakir M, Chandran P
Neurology 1998 May;50(5):1466-9. PMID: 9596009
Byrd SE, Osborn RE, Radkowski MA
Eur J Radiol 1991 Jan-Feb;12(1):53-9. PMID: 1999213

Clinical prediction guides

Bahi-Buisson N, Poirier K, Fourniol F, Saillour Y, Valence S, Lebrun N, Hully M, Bianco CF, Boddaert N, Elie C, Lascelles K, Souville I; LIS-Tubulinopathies Consortium., Beldjord C, Chelly J
Brain 2014 Jun;137(Pt 6):1676-700. doi: 10.1093/brain/awu082. PMID: 24860126
Hizem Y, Gargouri A, Ben Djebara M, Kacem I, Abdelkefi I, Jemli F, Gouider R
Neurol Sci 2012 Jun;33(3):631-3. Epub 2011 Sep 20 doi: 10.1007/s10072-011-0780-4. PMID: 21932090
Lawrence KM, Mei D, Newton MR, Leventer RJ, Guerrini R, Berkovic SF
Epilepsia 2010 Sep;51(9):1902-5. doi: 10.1111/j.1528-1167.2010.02694.x. PMID: 20726879
Morava E, Willemsen MA, Wopereis S, Ter Laak H, Lefeber D, Wevers RA, Cruysberg JR
Eur J Ophthalmol 2006 Jan-Feb;16(1):190-4. PMID: 16496270
Liang JS, Lee WT, Young C, Peng SS, Shen YZ
Pediatr Neurol 2002 Sep;27(3):171-6. PMID: 12393126

Recent systematic reviews

Hemming IA, Forrest AR, Shipman P, Woodward KJ, Walsh P, Ravine DG, Heng JI
Am J Med Genet B Neuropsychiatr Genet 2016 Apr;171B(3):458-67. Epub 2016 Feb 7 doi: 10.1002/ajmg.b.32427. PMID: 26853090
Weller S, Rosewich H, Gärtner J
J Inherit Metab Dis 2008 Apr;31(2):270-80. Epub 2008 Apr 14 doi: 10.1007/s10545-008-0856-3. PMID: 18415699

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