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Thick pachygyria

MedGen UID:
1689044
Concept ID:
C5209269
Congenital Abnormality
Synonyms: Pachygyria with cortical thickness > 10 mm; Pachygyria with cortical thickness above 10 mm
 
HPO: HP:0020187

Definition

Pachygyria with a very thick cerebral cortex measuring 10-20 mm. Note that cortical thickness cannot be measured reliably on scans done between 3 and 24 months of age. [from HPO]

Professional guidelines

PubMed

Lerman-Sagie T, Pogledic I, Leibovitz Z, Malinger G
Eur J Paediatr Neurol 2021 Sep;34:50-61. Epub 2021 Aug 3 doi: 10.1016/j.ejpn.2021.08.001. PMID: 34390998
Bahi-Buisson N, Souville I, Fourniol FJ, Toussaint A, Moores CA, Houdusse A, Lemaitre JY, Poirier K, Khalaf-Nazzal R, Hully M, Leger PL, Elie C, Boddaert N, Beldjord C, Chelly J, Francis F; SBH-LIS European Consortium
Brain 2013 Jan;136(Pt 1):223-44. doi: 10.1093/brain/aws323. PMID: 23365099Free PMC Article
Matsumoto N, Leventer RJ, Kuc JA, Mewborn SK, Dudlicek LL, Ramocki MB, Pilz DT, Mills PL, Das S, Ross ME, Ledbetter DH, Dobyns WB
Eur J Hum Genet 2001 Jan;9(1):5-12. doi: 10.1038/sj.ejhg.5200548. PMID: 11175293

Recent clinical studies

Etiology

Chiba E, Sato N, Kimura Y, Shigemoto Y, Maki H, Arizono E, Hamamoto K, Taniguchi G, Iwasaki M, Ota M, Matsuda H, Nakagawa E
J Neuroimaging 2023 Sep-Oct;33(5):731-736. Epub 2023 Jun 25 doi: 10.1111/jon.13141. PMID: 37355835
Maillard C, Roux CJ, Charbit-Henrion F, Steffann J, Laquerriere A, Quazza F, Buisson NB
Semin Cell Dev Biol 2023 Mar 15;137:87-95. Epub 2022 Jul 30 doi: 10.1016/j.semcdb.2022.07.009. PMID: 35915025
Zombor M, Kalmár T, Nagy N, Berényi M, Telcs B, Maróti Z, Brandau O, Sztriha L
J Appl Genet 2019 May;60(2):151-162. Epub 2019 Feb 1 doi: 10.1007/s13353-019-00486-y. PMID: 30706430
Allanson JE, Ledbetter DH, Dobyns WB
J Med Genet 1998 Nov;35(11):920-3. doi: 10.1136/jmg.35.11.920. PMID: 9832039Free PMC Article
Aicardi J
Brain Dev 1991;13(1):1-8. doi: 10.1016/s0387-7604(12)80289-0. PMID: 2063992

Diagnosis

Chiba E, Sato N, Kimura Y, Shigemoto Y, Maki H, Arizono E, Hamamoto K, Taniguchi G, Iwasaki M, Ota M, Matsuda H, Nakagawa E
J Neuroimaging 2023 Sep-Oct;33(5):731-736. Epub 2023 Jun 25 doi: 10.1111/jon.13141. PMID: 37355835
Maillard C, Roux CJ, Charbit-Henrion F, Steffann J, Laquerriere A, Quazza F, Buisson NB
Semin Cell Dev Biol 2023 Mar 15;137:87-95. Epub 2022 Jul 30 doi: 10.1016/j.semcdb.2022.07.009. PMID: 35915025
Lerman-Sagie T, Pogledic I, Leibovitz Z, Malinger G
Eur J Paediatr Neurol 2021 Sep;34:50-61. Epub 2021 Aug 3 doi: 10.1016/j.ejpn.2021.08.001. PMID: 34390998
de Fatima Viana Vasco Aragao M, de Lima Petribu NC, van der Linden V, Valenca MM, de Brito CAA, Parizel PM
Top Magn Reson Imaging 2019 Feb;28(1):1-14. doi: 10.1097/RMR.0000000000000193. PMID: 30817674
Mutch CA, Poduri A, Sahin M, Barry B, Walsh CA, Barkovich AJ
AJNR Am J Neuroradiol 2016 Mar;37(3):528-35. Epub 2015 Nov 12 doi: 10.3174/ajnr.A4552. PMID: 26564436Free PMC Article

Therapy

Zombor M, Kalmár T, Nagy N, Berényi M, Telcs B, Maróti Z, Brandau O, Sztriha L
J Appl Genet 2019 May;60(2):151-162. Epub 2019 Feb 1 doi: 10.1007/s13353-019-00486-y. PMID: 30706430

Prognosis

Lerman-Sagie T, Pogledic I, Leibovitz Z, Malinger G
Eur J Paediatr Neurol 2021 Sep;34:50-61. Epub 2021 Aug 3 doi: 10.1016/j.ejpn.2021.08.001. PMID: 34390998
Greiner A, Kaessmair S, Budday S
Soft Matter 2021 Feb 15;17(5):1210-1222. doi: 10.1039/d0sm02209h. PMID: 33480902
Budday S, Raybaud C, Kuhl E
Sci Rep 2014 Jul 10;4:5644. doi: 10.1038/srep05644. PMID: 25008163Free PMC Article
Bahi-Buisson N, Souville I, Fourniol FJ, Toussaint A, Moores CA, Houdusse A, Lemaitre JY, Poirier K, Khalaf-Nazzal R, Hully M, Leger PL, Elie C, Boddaert N, Beldjord C, Chelly J, Francis F; SBH-LIS European Consortium
Brain 2013 Jan;136(Pt 1):223-44. doi: 10.1093/brain/aws323. PMID: 23365099Free PMC Article
Aicardi J
Brain Dev 1991;13(1):1-8. doi: 10.1016/s0387-7604(12)80289-0. PMID: 2063992

Clinical prediction guides

Toldo I, Brunello F, Cavasin P, Nosadini M, Sartori S, Frigo AC, Mai R, Pelliccia V, Mancardi MM, Striano P, Severino M, Zara F, Rizzi R, Casellato S, Di Rosa G, Mastrangelo M, Spalice A, Budetta M, De Palma L, Guerrini R, Pruna D, Cordelli DM, Sofia V, Papa A, Chiesa V, Ragona F, Parisi P, D'Aniello A, Veggiotti P, Dainese F, Giordano L, Licchetta L, Tinuper P, D'Orsi G, Cassina M, Manara R
Pediatr Neurol 2023 Apr;141:58-64. Epub 2023 Jan 24 doi: 10.1016/j.pediatrneurol.2023.01.012. PMID: 36773408
Greiner A, Kaessmair S, Budday S
Soft Matter 2021 Feb 15;17(5):1210-1222. doi: 10.1039/d0sm02209h. PMID: 33480902
Tallinen T, Chung JY, Biggins JS, Mahadevan L
Proc Natl Acad Sci U S A 2014 Sep 2;111(35):12667-72. Epub 2014 Aug 18 doi: 10.1073/pnas.1406015111. PMID: 25136099Free PMC Article
Toba S, Hirotsune S
Neuropathology 2012 Aug;32(4):432-9. Epub 2012 Mar 7 doi: 10.1111/j.1440-1789.2012.01301.x. PMID: 22393875
Allanson JE, Ledbetter DH, Dobyns WB
J Med Genet 1998 Nov;35(11):920-3. doi: 10.1136/jmg.35.11.920. PMID: 9832039Free PMC Article

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