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Dysgenesis of the hippocampus

MedGen UID:
1368750
Concept ID:
C4476591
Congenital Abnormality
Synonym: Hippocampal dysgenesis
 
HPO: HP:0025101

Definition

Structural abnormality of the hippocampus related to defective development. [from HPO]

Term Hierarchy

Conditions with this feature

Lissencephaly 9 with complex brainstem malformation
MedGen UID:
1681109
Concept ID:
C5193029
Disease or Syndrome
Lissencephaly-9 with complex brainstem malformation (LIS9) is an autosomal dominant neurologic disorder characterized by global developmental delay apparent since infancy, impaired intellectual development with poor or absent speech, and sometimes abnormal or involuntary movements associated with abnormal brain imaging that typically shows pachygyria, lissencephaly, and malformation of the brainstem consistent with a neuronal migration defect (summary by Dobyns et al., 2018). For a general description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (607432).
Intellectual developmental disorder, autosomal dominant 65
MedGen UID:
1787923
Concept ID:
C5543371
Disease or Syndrome
Autosomal dominant intellectual developmental disorder-65 (MRD65) is characterized by delayed motor and speech acquisition, variably impaired intellectual development, and behavioral abnormalities. Affected individuals also have dysmorphic facial features. Brain imaging may be normal or may show abnormalities, including cerebellar hypoplasia, poor development of the corpus callosum, dysmorphic hippocampus, and polymicrogyria. Feeding difficulties, hypotonia, and seizures may also be observed (Duncan et al., 2020).
Ritscher-Schinzel syndrome 4
MedGen UID:
1794149
Concept ID:
C5561939
Disease or Syndrome
Ritscher-Schinzel syndrome-4 (RTSC4) is characterized by a constellation of congenital anomalies, including dysmorphic craniofacial features and structural brain anomalies, such as Dandy-Walker malformation (220200), hindbrain malformations, or agenesis of the corpus callosum, associated with global developmental delay and impaired intellectual development. Congenital cardiac defects have been reported in 1 family (summary by Ritscher et al., 1987 and Jeanne et al., 2021). For a discussion of genetic heterogeneity of Ritscher-Schinzel syndrome, see RTSC1 (220210).

Professional guidelines

PubMed

Strupp BJ, Powers BE, Velazquez R, Ash JA, Kelley CM, Alldred MJ, Strawderman M, Caudill MA, Mufson EJ, Ginsberg SD
Curr Alzheimer Res 2016;13(1):97-106. doi: 10.2174/1567205012666150921100311. PMID: 26391046Free PMC Article
Lee YS, Ehninger D, Zhou M, Oh JY, Kang M, Kwak C, Ryu HH, Butz D, Araki T, Cai Y, Balaji J, Sano Y, Nam CI, Kim HK, Kaang BK, Burger C, Neel BG, Silva AJ
Nat Neurosci 2014 Dec;17(12):1736-43. Epub 2014 Nov 10 doi: 10.1038/nn.3863. PMID: 25383899Free PMC Article
Das D, Phillips C, Hsieh W, Sumanth K, Dang V, Salehi A
Prog Neuropsychopharmacol Biol Psychiatry 2014 Oct 3;54:140-8. Epub 2014 May 17 doi: 10.1016/j.pnpbp.2014.05.004. PMID: 24842803

Recent clinical studies

Etiology

Li Y, Liu P, Lin Q, Zhou D, An D
Epilepsia 2023 Nov;64(11):2845-2860. Epub 2023 Sep 30 doi: 10.1111/epi.17757. PMID: 37611927
Duncan AR, Vitobello A, Collins SC, Vancollie VE, Lelliott CJ, Rodan L, Shi J, Seman AR, Agolini E, Novelli A, Prontera P, Guillen Sacoto MJ, Santiago-Sim T, Trimouille A, Goizet C, Nizon M, Bruel AL, Philippe C, Grant PE, Wojcik MH, Stoler J, Genetti CA, van Dooren MF, Maas SM, Alders M, Faivre L, Sorlin A, Yoon G, Yalcin B, Agrawal PB
Am J Hum Genet 2020 Dec 3;107(6):1170-1177. Epub 2020 Nov 23 doi: 10.1016/j.ajhg.2020.11.001. PMID: 33232677Free PMC Article
Blumcke I, Spreafico R, Haaker G, Coras R, Kobow K, Bien CG, Pfäfflin M, Elger C, Widman G, Schramm J, Becker A, Braun KP, Leijten F, Baayen JC, Aronica E, Chassoux F, Hamer H, Stefan H, Rössler K, Thom M, Walker MC, Sisodiya SM, Duncan JS, McEvoy AW, Pieper T, Holthausen H, Kudernatsch M, Meencke HJ, Kahane P, Schulze-Bonhage A, Zentner J, Heiland DH, Urbach H, Steinhoff BJ, Bast T, Tassi L, Lo Russo G, Özkara C, Oz B, Krsek P, Vogelgesang S, Runge U, Lerche H, Weber Y, Honavar M, Pimentel J, Arzimanoglou A, Ulate-Campos A, Noachtar S, Hartl E, Schijns O, Guerrini R, Barba C, Jacques TS, Cross JH, Feucht M, Mühlebner A, Grunwald T, Trinka E, Winkler PA, Gil-Nagel A, Toledano Delgado R, Mayer T, Lutz M, Zountsas B, Garganis K, Rosenow F, Hermsen A, von Oertzen TJ, Diepgen TL, Avanzini G; EEBB Consortium
N Engl J Med 2017 Oct 26;377(17):1648-1656. doi: 10.1056/NEJMoa1703784. PMID: 29069555
Chandrasekaran S, Neal-Perry G
Curr Opin Obstet Gynecol 2017 Jun;29(3):180-187. doi: 10.1097/GCO.0000000000000364. PMID: 28448277Free PMC Article
Valenstein E, Bowers D, Verfaellie M, Heilman KM, Day A, Watson RT
Brain 1987 Dec;110 ( Pt 6):1631-46. doi: 10.1093/brain/110.6.1631. PMID: 3427404

Diagnosis

Middlebrooks EH, Gupta V, Agarwal AK, Freund BE, Messina SA, Tatum WO, Sabsevitz DS, Feyissa AM, Mirsattari SM, Galan FN, Quinones-Hinojosa A, Grewal SS, Murray JV
AJNR Am J Neuroradiol 2024 Sep 9;45(9):1185-1193. doi: 10.3174/ajnr.A8214. PMID: 38383054Free PMC Article
Li Y, Shen M, Stockton ME, Zhao X
Neurobiol Learn Mem 2019 Nov;165:106945. Epub 2018 Oct 12 doi: 10.1016/j.nlm.2018.10.001. PMID: 30321651Free PMC Article
Blumcke I, Spreafico R, Haaker G, Coras R, Kobow K, Bien CG, Pfäfflin M, Elger C, Widman G, Schramm J, Becker A, Braun KP, Leijten F, Baayen JC, Aronica E, Chassoux F, Hamer H, Stefan H, Rössler K, Thom M, Walker MC, Sisodiya SM, Duncan JS, McEvoy AW, Pieper T, Holthausen H, Kudernatsch M, Meencke HJ, Kahane P, Schulze-Bonhage A, Zentner J, Heiland DH, Urbach H, Steinhoff BJ, Bast T, Tassi L, Lo Russo G, Özkara C, Oz B, Krsek P, Vogelgesang S, Runge U, Lerche H, Weber Y, Honavar M, Pimentel J, Arzimanoglou A, Ulate-Campos A, Noachtar S, Hartl E, Schijns O, Guerrini R, Barba C, Jacques TS, Cross JH, Feucht M, Mühlebner A, Grunwald T, Trinka E, Winkler PA, Gil-Nagel A, Toledano Delgado R, Mayer T, Lutz M, Zountsas B, Garganis K, Rosenow F, Hermsen A, von Oertzen TJ, Diepgen TL, Avanzini G; EEBB Consortium
N Engl J Med 2017 Oct 26;377(17):1648-1656. doi: 10.1056/NEJMoa1703784. PMID: 29069555
Isnard J, Bourdillon P
Rev Neurol (Paris) 2015 Mar;171(3):298-306. Epub 2015 Mar 2 doi: 10.1016/j.neurol.2014.12.002. PMID: 25744767
Blümcke I, Thom M, Aronica E, Armstrong DD, Bartolomei F, Bernasconi A, Bernasconi N, Bien CG, Cendes F, Coras R, Cross JH, Jacques TS, Kahane P, Mathern GW, Miyata H, Moshé SL, Oz B, Özkara Ç, Perucca E, Sisodiya S, Wiebe S, Spreafico R
Epilepsia 2013 Jul;54(7):1315-29. Epub 2013 May 20 doi: 10.1111/epi.12220. PMID: 23692496

Therapy

Li Y, Liu P, Lin Q, Zhou D, An D
Epilepsia 2023 Nov;64(11):2845-2860. Epub 2023 Sep 30 doi: 10.1111/epi.17757. PMID: 37611927
Frank Y
Pediatr Neurol 2021 Sep;122:59-64. Epub 2021 Jun 16 doi: 10.1016/j.pediatrneurol.2021.06.002. PMID: 34325981
Pinto B, Morelli G, Rastogi M, Savardi A, Fumagalli A, Petretto A, Bartolucci M, Varea E, Catelani T, Contestabile A, Perlini LE, Cancedda L
Neuron 2020 Dec 9;108(5):887-904.e12. Epub 2020 Oct 6 doi: 10.1016/j.neuron.2020.09.010. PMID: 33027640Free PMC Article
Moretti R, Caruso P
Int J Mol Sci 2020 Sep 5;21(18) doi: 10.3390/ijms21186506. PMID: 32899565Free PMC Article
Das D, Phillips C, Hsieh W, Sumanth K, Dang V, Salehi A
Prog Neuropsychopharmacol Biol Psychiatry 2014 Oct 3;54:140-8. Epub 2014 May 17 doi: 10.1016/j.pnpbp.2014.05.004. PMID: 24842803

Prognosis

Middlebrooks EH, Gupta V, Agarwal AK, Freund BE, Messina SA, Tatum WO, Sabsevitz DS, Feyissa AM, Mirsattari SM, Galan FN, Quinones-Hinojosa A, Grewal SS, Murray JV
AJNR Am J Neuroradiol 2024 Sep 9;45(9):1185-1193. doi: 10.3174/ajnr.A8214. PMID: 38383054Free PMC Article
Hassankhani A, Stein JM, Haboosheh AG, Vossough A, Loevner LA, Nabavizadeh SA
J Neuroimaging 2021 Jan;31(1):20-34. Epub 2020 Dec 13 doi: 10.1111/jon.12809. PMID: 33314527
Isnard J, Bourdillon P
Rev Neurol (Paris) 2015 Mar;171(3):298-306. Epub 2015 Mar 2 doi: 10.1016/j.neurol.2014.12.002. PMID: 25744767
Cendes F, Sakamoto AC, Spreafico R, Bingaman W, Becker AJ
Acta Neuropathol 2014 Jul;128(1):21-37. Epub 2014 May 14 doi: 10.1007/s00401-014-1292-0. PMID: 24823761
Valenstein E, Bowers D, Verfaellie M, Heilman KM, Day A, Watson RT
Brain 1987 Dec;110 ( Pt 6):1631-46. doi: 10.1093/brain/110.6.1631. PMID: 3427404

Clinical prediction guides

Li Y, Liu P, Lin Q, Zhou D, An D
Epilepsia 2023 Nov;64(11):2845-2860. Epub 2023 Sep 30 doi: 10.1111/epi.17757. PMID: 37611927
Peña-Melián Á, Cabello-de la Rosa JP, Gallardo-Alcañiz MJ, Vaamonde-Gamo J, Relea-Calatayud F, González-López L, Villanueva-Anguita P, Flores-Cuadrado A, Saiz-Sánchez D, Martínez-Marcos A
Anat Rec (Hoboken) 2019 Mar;302(3):394-404. Epub 2018 May 17 doi: 10.1002/ar.23826. PMID: 29663690
Stouffer MA, Golden JA, Francis F
Neurobiol Dis 2016 Aug;92(Pt A):18-45. Epub 2015 Aug 20 doi: 10.1016/j.nbd.2015.08.003. PMID: 26299390Free PMC Article
Cendes F, Sakamoto AC, Spreafico R, Bingaman W, Becker AJ
Acta Neuropathol 2014 Jul;128(1):21-37. Epub 2014 May 14 doi: 10.1007/s00401-014-1292-0. PMID: 24823761
Marcorelles P, Laquerriere A
Am J Med Genet C Semin Med Genet 2010 Feb 15;154C(1):109-19. doi: 10.1002/ajmg.c.30249. PMID: 20104606

Recent systematic reviews

Zhou DJ, Woodson-Smith S, Emmert BE, Kornspun A, Larocque J, Kulick-Soper CV, Qiu MK, Ellis CA, Gugger JJ, Conrad EC, Waldman G, Ganguly T, Sinha SR, Davis KA, Stein JM, Liu GT, Gelfand M, Raghupathi R
Epilepsy Behav 2024 Sep;158:109928. Epub 2024 Jul 2 doi: 10.1016/j.yebeh.2024.109928. PMID: 38959747
Li Y, Liu P, Lin Q, Zhou D, An D
Epilepsia 2023 Nov;64(11):2845-2860. Epub 2023 Sep 30 doi: 10.1111/epi.17757. PMID: 37611927
Mutti C, Riccò M, Bartolini Y, Bernabè G, Trippi I, Melpignano A, Ciliento R, Zinno L, Florindo I, Sasso E, Odone A, Parrino L, Vaudano AE
Epilepsia 2021 Feb;62(2):383-396. Epub 2020 Dec 16 doi: 10.1111/epi.16787. PMID: 33325054
Hamner T, Udhnani MD, Osipowicz KZ, Lee NR
J Int Neuropsychol Soc 2018 Oct;24(9):966-976. Epub 2018 May 23 doi: 10.1017/S1355617718000206. PMID: 29789029Free PMC Article
Tan GM, Arnone D, McIntosh AM, Ebmeier KP
Schizophr Res 2009 Dec;115(2-3):173-81. Epub 2009 Oct 9 doi: 10.1016/j.schres.2009.09.010. PMID: 19819113

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