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Hippocampal malrotation

MedGen UID:
1611479
Concept ID:
C4539733
Congenital Abnormality
HPO: HP:0034396

Definition

Hippocampal malrotation, also termed incomplete inversion of the hippocampus or hippocampal malformation, is an increasingly recognized neuroimaging finding of undetermined clinical significance. It is characterized by features including (i) Round or pyramidal shape instead of ovoid shape; (ii) Medial position of the hippocampus on the hippocampal sulcus; (iii) The collateral sulcus is excessively deep or verticalized; (iv) Fimbria located medial to the hippocampus; (v) Small or displaced fornix; (vi) Enlarged temporal horn and empty choroid fissure; (vii) Thickened subiculum; (viii) Reduced upper horizontal portion of the parahippocampal gyrus. [from HPO]

Conditions with this feature

Microphthalmia, syndromic 11
MedGen UID:
765991
Concept ID:
C3553077
Disease or Syndrome
Any syndromic microphthalmia in which the cause of the disease is a mutation in the VAX1 gene.
Developmental and epileptic encephalopathy, 60
MedGen UID:
1638894
Concept ID:
C4693663
Disease or Syndrome
Developmental and epileptic encephalopathy-60 (DEE60) is an autosomal recessive neurologic disorder characterized by the onset of infantile spasms, seizures, or myoclonus in the first months of life. EEG typically shows hypsarrhythmia, consistent with a clinical diagnosis of West syndrome. Affected individuals have severe global developmental delay with inability to sit, walk, or speak. Brain imaging may show brain atrophy and hippocampal malrotation (summary by Mutoh et al., 2018). For a discussion of genetic heterogeneity of DEE, see 308350.

Professional guidelines

PubMed

Vaz A, Teixeira BCA, Bertholdo DB
Seizure 2022 Aug;100:67-75. Epub 2022 Jun 17 doi: 10.1016/j.seizure.2022.06.003. PMID: 35779435

Recent clinical studies

Etiology

Natsume T, Inaba Y, Osawa Y, Fukuyama T
Neuropediatrics 2022 Aug;53(4):239-245. Epub 2022 Jan 28 doi: 10.1055/a-1754-1142. PMID: 35098496Free PMC Article
Leach JL, Awwad R, Greiner HM, Vannest JJ, Miles L, Mangano FT
J Neurosurg Pediatr 2016 Jun;17(6):683-93. Epub 2016 Feb 12 doi: 10.3171/2015.11.PEDS15485. PMID: 26870898
Chan S, Bello JA, Shinnar S, Hesdorffer DC, Lewis DV, MacFall J, Shinnar RC, Gomes W, Litherland C, Xu Y, Nordli DR, Pellock JM, Frank LM, Moshé SL, Sun S; FEBSTAT Study Team
AJR Am J Roentgenol 2015 Nov;205(5):1068-74. doi: 10.2214/AJR.14.13330. PMID: 26496555Free PMC Article
Henry TR, Chupin M, Lehéricy S, Strupp JP, Sikora MA, Sha ZY, Ugurbil K, Van de Moortele PF
Radiology 2011 Oct;261(1):199-209. Epub 2011 Jul 11 doi: 10.1148/radiol.11101651. PMID: 21746814Free PMC Article
Gamss RP, Slasky SE, Bello JA, Miller TS, Shinnar S
AJNR Am J Neuroradiol 2009 Sep;30(8):1571-3. Epub 2009 Jun 18 doi: 10.3174/ajnr.A1657. PMID: 19541778Free PMC Article

Diagnosis

Vaz A, Teixeira BCA, Bertholdo DB
Seizure 2022 Aug;100:67-75. Epub 2022 Jun 17 doi: 10.1016/j.seizure.2022.06.003. PMID: 35779435
Natsume T, Inaba Y, Osawa Y, Fukuyama T
Neuropediatrics 2022 Aug;53(4):239-245. Epub 2022 Jan 28 doi: 10.1055/a-1754-1142. PMID: 35098496Free PMC Article
Tsai MH, Vaughan DN, Perchyonok Y, Fitt GJ, Scheffer IE, Berkovic SF, Jackson GD
Epilepsia 2016 Oct;57(10):1719-1728. Epub 2016 Aug 26 doi: 10.1111/epi.13505. PMID: 27562507
Chan S, Bello JA, Shinnar S, Hesdorffer DC, Lewis DV, MacFall J, Shinnar RC, Gomes W, Litherland C, Xu Y, Nordli DR, Pellock JM, Frank LM, Moshé SL, Sun S; FEBSTAT Study Team
AJR Am J Roentgenol 2015 Nov;205(5):1068-74. doi: 10.2214/AJR.14.13330. PMID: 26496555Free PMC Article
Gamss RP, Slasky SE, Bello JA, Miller TS, Shinnar S
AJNR Am J Neuroradiol 2009 Sep;30(8):1571-3. Epub 2009 Jun 18 doi: 10.3174/ajnr.A1657. PMID: 19541778Free PMC Article

Prognosis

Vaz A, Teixeira BCA, Bertholdo DB
Seizure 2022 Aug;100:67-75. Epub 2022 Jun 17 doi: 10.1016/j.seizure.2022.06.003. PMID: 35779435
Natsume T, Inaba Y, Osawa Y, Fukuyama T
Neuropediatrics 2022 Aug;53(4):239-245. Epub 2022 Jan 28 doi: 10.1055/a-1754-1142. PMID: 35098496Free PMC Article
Leach JL, Awwad R, Greiner HM, Vannest JJ, Miles L, Mangano FT
J Neurosurg Pediatr 2016 Jun;17(6):683-93. Epub 2016 Feb 12 doi: 10.3171/2015.11.PEDS15485. PMID: 26870898
Shiba N, Daza RA, Shaffer LG, Barkovich AJ, Dobyns WB, Hevner RF
Acta Neuropathol Commun 2013 Aug 2;1:45. doi: 10.1186/2051-5960-1-45. PMID: 24252393Free PMC Article
Voets NL, Bernhardt BC, Kim H, Yoon U, Bernasconi N
Neurology 2011 Jan 11;76(2):138-44. Epub 2010 Dec 9 doi: 10.1212/WNL.0b013e318205d521. PMID: 21148116Free PMC Article

Clinical prediction guides

Vaz A, Teixeira BCA, Bertholdo DB
Seizure 2022 Aug;100:67-75. Epub 2022 Jun 17 doi: 10.1016/j.seizure.2022.06.003. PMID: 35779435
Caciagli L, Wandschneider B, Xiao F, Vollmar C, Centeno M, Vos SB, Trimmel K, Sidhu MK, Thompson PJ, Winston GP, Duncan JS, Koepp MJ
Brain 2019 Sep 1;142(9):2670-2687. doi: 10.1093/brain/awz215. PMID: 31365054Free PMC Article
Leach JL, Awwad R, Greiner HM, Vannest JJ, Miles L, Mangano FT
J Neurosurg Pediatr 2016 Jun;17(6):683-93. Epub 2016 Feb 12 doi: 10.3171/2015.11.PEDS15485. PMID: 26870898
Chan S, Bello JA, Shinnar S, Hesdorffer DC, Lewis DV, MacFall J, Shinnar RC, Gomes W, Litherland C, Xu Y, Nordli DR, Pellock JM, Frank LM, Moshé SL, Sun S; FEBSTAT Study Team
AJR Am J Roentgenol 2015 Nov;205(5):1068-74. doi: 10.2214/AJR.14.13330. PMID: 26496555Free PMC Article
Henry TR, Chupin M, Lehéricy S, Strupp JP, Sikora MA, Sha ZY, Ugurbil K, Van de Moortele PF
Radiology 2011 Oct;261(1):199-209. Epub 2011 Jul 11 doi: 10.1148/radiol.11101651. PMID: 21746814Free PMC Article

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