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Abnormal diffusion weighted cerebral MRI morphology

MedGen UID:
1716407
Concept ID:
C5397636
Finding
Synonyms: Diffusion weighted imaging (DWI) abnormality; Diffusion weighted magnetic resonance imaging (DWI) abnormality; MRI diffusion abnormality of the cerebrum
 
HPO: HP:0032615

Definition

A diffusion abnormality observed in diffusion-weighted magnetic resonance imaging (MRI) of the brain. Molecular diffusion refers to the notion that any type of molecule in a fluid (eg, water) is randomly displaced as the molecule is agitated by thermal energy. Restricted diffusion of water appears bright on diffusion-weighted images. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal diffusion weighted cerebral MRI morphology

Conditions with this feature

Mitochondrial complex 1 deficiency, nuclear type 34
MedGen UID:
1720533
Concept ID:
C5394053
Disease or Syndrome
Multiple mitochondrial dysfunctions syndrome 7
MedGen UID:
1841222
Concept ID:
C5830586
Disease or Syndrome
Mitochondrial dysfunctions syndrome-7 (MMDS7) is an autosomal recessive disorder characterized by a clinical spectrum ranging from neonatal fatal glycine encephalopathy to an attenuated phenotype of developmental delay, behavioral problems, limited epilepsy, and variable movement problems (Arribas-Carreira et al., 2023). For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (605711).

Professional guidelines

PubMed

Corrêa DG, Telles B, Freddi TAL
Clin Radiol 2024 Feb;79(2):94-101. Epub 2023 Nov 29 doi: 10.1016/j.crad.2023.11.010. PMID: 38092645
Neonatologist Society, Chinese Medical Doctor Association; Editorial Board of Chinese Journal of Contemporary Pediatrics
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Schmainda KM
CNS Oncol 2012 Nov;1(2):169-80. doi: 10.2217/cns.12.25. PMID: 23936625Free PMC Article

Recent clinical studies

Etiology

Duncan JS, Winston GP, Koepp MJ, Ourselin S
Lancet Neurol 2016 Apr;15(4):420-33. Epub 2016 Feb 24 doi: 10.1016/S1474-4422(15)00383-X. PMID: 26925532Free PMC Article
Skranes J, Lohaugen GC, Martinussen M, Indredavik MS, Dale AM, Haraldseth O, Vangberg TR, Brubakk AM
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Chung MK, Dalton KM, Davidson RJ
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Gressens P, Luton D
Pediatr Radiol 2004 Sep;34(9):682-4. Epub 2004 Jul 23 doi: 10.1007/s00247-004-1247-z. PMID: 15278321

Diagnosis

Meijer FJ, Goraj B
Front Biosci (Elite Ed) 2014 Jun 1;6(2):360-9. doi: 10.2741/E711. PMID: 24896211
Szabo K, Förster A, Gass A
Front Neurol Neurosci 2014;34:71-84. Epub 2014 Apr 16 doi: 10.1159/000357925. PMID: 24777132
Hibbeln JF, Shors SM, Byrd SE
Clin Obstet Gynecol 2012 Mar;55(1):352-66. doi: 10.1097/GRF.0b013e3182487d04. PMID: 22343250
Brooks DJ
Parkinsonism Relat Disord 2012 Jan;18 Suppl 1:S31-3. doi: 10.1016/S1353-8020(11)70012-8. PMID: 22166447
Robertson RL, Glasier CM
Pediatr Radiol 2007 Aug;37(8):749-68. Epub 2007 Jun 23 doi: 10.1007/s00247-007-0515-0. PMID: 17589837

Therapy

Corrêa DG, Telles B, Freddi TAL
Clin Radiol 2024 Feb;79(2):94-101. Epub 2023 Nov 29 doi: 10.1016/j.crad.2023.11.010. PMID: 38092645
Nguyen QTR, Gravier A, Lesoil C, Bedet A, Petit-Hoang C, Mahevas M, Mekontso-Dessap A, Hodel J, Bachoud-Lévi AC, Cleret de Langavant L
Am J Med 2020 Jul;133(7):e360-e364. Epub 2019 Dec 24 doi: 10.1016/j.amjmed.2019.11.018. PMID: 31877268
Mak E, Padilla C, Annus T, Wilson LR, Hong YT, Fryer TD, Coles JP, Aigbirhio FI, Menon DK, Nestor PJ, Zaman SH, Holland AJ
Neurobiol Aging 2019 Aug;80:196-202. Epub 2019 Mar 5 doi: 10.1016/j.neurobiolaging.2019.02.018. PMID: 31207551
Heiss WD, Zaro-Weber O
Int J Stroke 2019 Jun;14(4):351-358. Epub 2019 Apr 1 doi: 10.1177/1747493019840936. PMID: 30935350
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Kurume Med J 2012;59(3-4):71-7. doi: 10.2739/kurumemedj.59.71. PMID: 23823017

Prognosis

Tax CMW, Genc S, MacIver CL, Nilsson M, Wardle M, Szczepankiewicz F, Jones DK, Peall KJ
Neuroimage Clin 2023;38:103419. Epub 2023 Apr 28 doi: 10.1016/j.nicl.2023.103419. PMID: 37192563Free PMC Article
Wadi LC, Kim MJ, Fisher MJ
J Stroke Cerebrovasc Dis 2020 Jun;29(6):104750. Epub 2020 Mar 24 doi: 10.1016/j.jstrokecerebrovasdis.2020.104750. PMID: 32220556
Lopez J, Lomen-Hoerth C, Deutsch GK, Kerchner GA, Koshy A
Neurocase 2014 Aug;20(4):446-51. Epub 2013 May 22 doi: 10.1080/13554794.2013.791864. PMID: 23697757Free PMC Article
Laothamatas J, Sungkarat W, Hemachudha T
Adv Virus Res 2011;79:309-27. doi: 10.1016/B978-0-12-387040-7.00014-7. PMID: 21601052
Skranes J, Lohaugen GC, Martinussen M, Indredavik MS, Dale AM, Haraldseth O, Vangberg TR, Brubakk AM
Neuroreport 2009 Feb 18;20(3):263-6. doi: 10.1097/wnr.0b013e32832027fe. PMID: 19444947

Clinical prediction guides

Cairns J, Vavasour IM, Traboulsee A, Carruthers R, Kolind SH, Li DKB, Moore GRW, Laule C
J Neuroimaging 2022 Jan;32(1):5-16. Epub 2021 Nov 9 doi: 10.1111/jon.12945. PMID: 34752664
Haghighi-Morad M, Naseri Z, Jamshidi N, Hassanian-Moghaddam H, Zamani N, Ahmad-Molaei L
BMC Med Imaging 2020 Jan 17;20(1):6. doi: 10.1186/s12880-020-0410-9. PMID: 31952488Free PMC Article
Pavlovic D, Pekic S, Stojanovic M, Popovic V
Pituitary 2019 Jun;22(3):270-282. doi: 10.1007/s11102-019-00957-9. PMID: 30929221
Mascalchi M, Vella A
Int Rev Neurobiol 2018;143:109-162. Epub 2018 Oct 29 doi: 10.1016/bs.irn.2018.09.011. PMID: 30473193
Chun IY, Mao X, Breedlove EL, Leverenz LJ, Nauman EA, Talavage TM
Dev Neuropsychol 2015;40(2):92-7. doi: 10.1080/87565641.2015.1020945. PMID: 25961592

Recent systematic reviews

Caranova M, Soares JF, Batista S, Castelo-Branco M, Duarte JV
Magn Reson Imaging 2023 Dec;104:61-71. Epub 2023 Sep 27 doi: 10.1016/j.mri.2023.09.010. PMID: 37775062
Khalifeh N, Omary A, Cotter DL, Kim MS, Geffner ME, Herting MM
J Child Neurol 2022 Aug;37(8-9):758-783. Epub 2022 Jun 23 doi: 10.1177/08830738221100886. PMID: 35746874Free PMC Article
González MJ, Polo MR, Ripollés P, Gassió R, Ormazabal A, Sierra C, Roura RC, Artuch R, Campistol J
Orphanet J Rare Dis 2018 Oct 26;13(1):188. doi: 10.1186/s13023-018-0912-5. PMID: 30367646Free PMC Article
Oriolo G, Egmond E, Mariño Z, Cavero M, Navines R, Zamarrenho L, Solà R, Pujol J, Bargallo N, Forns X, Martin-Santos R
Aliment Pharmacol Ther 2018 May;47(9):1238-1252. Epub 2018 Mar 14 doi: 10.1111/apt.14594. PMID: 29536563
Engelter ST, Wetzel SG, Bonati LH, Fluri F, Lyrer PA
Swiss Med Wkly 2008 Dec 13;138(49-50):729-40. doi: 10.4414/smw.2008.12249. PMID: 19130326

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