U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Cerebral white matter agenesis

MedGen UID:
347986
•Concept ID:
C1859969
•
Finding; Pathologic Function
Synonym: Agenesis of cerebral white matter
 
HPO: HP:0200017
Monarch Initiative: MONDO:0008739
OMIM®: 202600

Definition

Congenital defect with failure of the development of the cerebral white matter. [from HPO]

Clinical features

From HPO
Cerebral white matter agenesis
MedGen UID:
347986
•Concept ID:
C1859969
•
Pathologic Function
Congenital defect with failure of the development of the cerebral white matter.
See: Feature record | Search on this feature
Intellectual disability
MedGen UID:
811461
•Concept ID:
C3714756
•
Mental or Behavioral Dysfunction
Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCerebral white matter agenesis

Conditions with this feature

Cerebral white matter agenesis
MedGen UID:
347986
•Concept ID:
C1859969
•
Pathologic Function
Congenital defect with failure of the development of the cerebral white matter.
See: Condition Record
Cerebral white matter agenesis

Professional guidelines

PubMed

Posterior reversible encephalopathy syndrome (PRES): presentation, diagnosis and treatment.
Parasher A, Jhamb R
Postgrad Med J 2020 Oct;96(1140):623-628. Epub 2020 May 28 doi: 10.1136/postgradmedj-2020-137706. PMID: 32467104
Clinical presentation, diagnosis, and management of fetal alcohol spectrum disorder.
Wozniak JR, Riley EP, Charness ME
Lancet Neurol 2019 Aug;18(8):760-770. Epub 2019 May 31 doi: 10.1016/S1474-4422(19)30150-4. PMID: 31160204Free PMC Article
Diagnosis, treatment, and prevention of cerebral palsy.
O'Shea TM
Clin Obstet Gynecol 2008 Dec;51(4):816-28. doi: 10.1097/GRF.0b013e3181870ba7. PMID: 18981805Free PMC Article

Recent clinical studies

Etiology

Diffusely abnormal white matter in multiple sclerosis.
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
White Matter-Based Structural Brain Network of Major Depression.
Chen T, Chen Z, Gong Q
Adv Exp Med Biol 2021;1305:35-55. doi: 10.1007/978-981-33-6044-0_3. PMID: 33834393
White matter injury and neurodevelopmental disabilities: A cross-disease (dis)connection.
Cainelli E, Arrigoni F, Vedovelli L
Prog Neurobiol 2020 Oct;193:101845. Epub 2020 Jun 4 doi: 10.1016/j.pneurobio.2020.101845. PMID: 32505757
The atypical social brain network in autism: advances in structural and functional MRI studies.
Sato W, Uono S
Curr Opin Neurol 2019 Aug;32(4):617-621. doi: 10.1097/WCO.0000000000000713. PMID: 31135458
White matter changes in Alzheimer's disease: a focus on myelin and oligodendrocytes.
Nasrabady SE, Rizvi B, Goldman JE, Brickman AM
Acta Neuropathol Commun 2018 Mar 2;6(1):22. doi: 10.1186/s40478-018-0515-3. PMID: 29499767Free PMC Article

Diagnosis

White Matter-Based Structural Brain Network of Major Depression.
Chen T, Chen Z, Gong Q
Adv Exp Med Biol 2021;1305:35-55. doi: 10.1007/978-981-33-6044-0_3. PMID: 33834393
Preterm white matter injury: ultrasound diagnosis and classification.
Agut T, Alarcon A, Cabañas F, Bartocci M, Martinez-Biarge M, Horsch S; eurUS.brain group
Pediatr Res 2020 Mar;87(Suppl 1):37-49. doi: 10.1038/s41390-020-0781-1. PMID: 32218534Free PMC Article
Severity of white matter hyperintensities: Lesion patterns, cognition, and microstructural changes.
Zeng W, Chen Y, Zhu Z, Gao S, Xia J, Chen X, Jia J, Zhang Z
J Cereb Blood Flow Metab 2020 Dec;40(12):2454-2463. Epub 2019 Dec 22 doi: 10.1177/0271678X19893600. PMID: 31865841Free PMC Article
The pathology and pathophysiology of vascular dementia.
Kalaria RN
Neuropharmacology 2018 May 15;134(Pt B):226-239. Epub 2017 Dec 19 doi: 10.1016/j.neuropharm.2017.12.030. PMID: 29273521
Clinical neuroimaging in the preterm infant: Diagnosis and prognosis.
Hinojosa-Rodríguez M, Harmony T, Carrillo-Prado C, Van Horn JD, Irimia A, Torgerson C, Jacokes Z
Neuroimage Clin 2017;16:355-368. Epub 2017 Aug 14 doi: 10.1016/j.nicl.2017.08.015. PMID: 28861337Free PMC Article

Therapy

Posterior reversible encephalopathy syndrome (PRES): presentation, diagnosis and treatment.
Parasher A, Jhamb R
Postgrad Med J 2020 Oct;96(1140):623-628. Epub 2020 May 28 doi: 10.1136/postgradmedj-2020-137706. PMID: 32467104
Subacute sclerosing panencephalitis.
Garg RK, Mahadevan A, Malhotra HS, Rizvi I, Kumar N, Uniyal R
Rev Med Virol 2019 Sep;29(5):e2058. Epub 2019 Jun 24 doi: 10.1002/rmv.2058. PMID: 31237061
Exercise effects on depression: Possible neural mechanisms.
Gujral S, Aizenstein H, Reynolds CF 3rd, Butters MA, Erickson KI
Gen Hosp Psychiatry 2017 Nov;49:2-10. doi: 10.1016/j.genhosppsych.2017.04.012. PMID: 29122145Free PMC Article
AUTISM IN REVIEW.
Khalifeh S, Yassin W, Kourtian S, Boustany RM
J Med Liban 2016 Aug;64(2):110-115. PMID: 30452150
Cerebral white matter hyperintensities on MRI: Current concepts and therapeutic implications.
Ovbiagele B, Saver JL
Cerebrovasc Dis 2006;22(2-3):83-90. Epub 2006 May 9 doi: 10.1159/000093235. PMID: 16685119

Prognosis

Posterior reversible encephalopathy syndrome (PRES): presentation, diagnosis and treatment.
Parasher A, Jhamb R
Postgrad Med J 2020 Oct;96(1140):623-628. Epub 2020 May 28 doi: 10.1136/postgradmedj-2020-137706. PMID: 32467104
Preterm white matter injury: ultrasound diagnosis and classification.
Agut T, Alarcon A, Cabañas F, Bartocci M, Martinez-Biarge M, Horsch S; eurUS.brain group
Pediatr Res 2020 Mar;87(Suppl 1):37-49. doi: 10.1038/s41390-020-0781-1. PMID: 32218534Free PMC Article
Severity of white matter hyperintensities: Lesion patterns, cognition, and microstructural changes.
Zeng W, Chen Y, Zhu Z, Gao S, Xia J, Chen X, Jia J, Zhang Z
J Cereb Blood Flow Metab 2020 Dec;40(12):2454-2463. Epub 2019 Dec 22 doi: 10.1177/0271678X19893600. PMID: 31865841Free PMC Article
The pathology and pathophysiology of vascular dementia.
Kalaria RN
Neuropharmacology 2018 May 15;134(Pt B):226-239. Epub 2017 Dec 19 doi: 10.1016/j.neuropharm.2017.12.030. PMID: 29273521
Clinical neuroimaging in the preterm infant: Diagnosis and prognosis.
Hinojosa-Rodríguez M, Harmony T, Carrillo-Prado C, Van Horn JD, Irimia A, Torgerson C, Jacokes Z
Neuroimage Clin 2017;16:355-368. Epub 2017 Aug 14 doi: 10.1016/j.nicl.2017.08.015. PMID: 28861337Free PMC Article

Clinical prediction guides

Diffusely abnormal white matter in multiple sclerosis.
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
Preterm white matter injury: ultrasound diagnosis and classification.
Agut T, Alarcon A, Cabañas F, Bartocci M, Martinez-Biarge M, Horsch S; eurUS.brain group
Pediatr Res 2020 Mar;87(Suppl 1):37-49. doi: 10.1038/s41390-020-0781-1. PMID: 32218534Free PMC Article
Severity of white matter hyperintensities: Lesion patterns, cognition, and microstructural changes.
Zeng W, Chen Y, Zhu Z, Gao S, Xia J, Chen X, Jia J, Zhang Z
J Cereb Blood Flow Metab 2020 Dec;40(12):2454-2463. Epub 2019 Dec 22 doi: 10.1177/0271678X19893600. PMID: 31865841Free PMC Article
The pathology and pathophysiology of vascular dementia.
Kalaria RN
Neuropharmacology 2018 May 15;134(Pt B):226-239. Epub 2017 Dec 19 doi: 10.1016/j.neuropharm.2017.12.030. PMID: 29273521
Clinical neuroimaging in the preterm infant: Diagnosis and prognosis.
Hinojosa-Rodríguez M, Harmony T, Carrillo-Prado C, Van Horn JD, Irimia A, Torgerson C, Jacokes Z
Neuroimage Clin 2017;16:355-368. Epub 2017 Aug 14 doi: 10.1016/j.nicl.2017.08.015. PMID: 28861337Free PMC Article

Recent systematic reviews

Transdiagnostic role of glutamate and white matter damage in neuropsychiatric disorders: A Systematic Review.
Luttenbacher I, Phillips A, Kazemi R, Hadipour AL, Sanghvi I, Martinez J, Adamson MM
J Psychiatr Res 2022 Mar;147:324-348. Epub 2021 Dec 28 doi: 10.1016/j.jpsychires.2021.12.042. PMID: 35151030
A systematic review of the association between biological markers and environmental stress risk factors for adolescent depression.
Zajkowska Z, Walsh A, Zonca V, Gullett N, Pedersen GA, Kieling C, Swartz JR, Karmacharya R, Fisher HL, Kohrt BA, Mondelli V
J Psychiatr Res 2021 Jun;138:163-175. Epub 2021 Apr 7 doi: 10.1016/j.jpsychires.2021.04.003. PMID: 33857787
White Matter Diffusion Abnormalities in Carotid Artery Disease: A Systematic Review and Meta-Analysis.
Baradaran H, Mtui EE, Richardson JE, Delgado D, Dunning A, Marshall RS, Sanelli PC, Gupta A
J Neuroimaging 2016 Sep;26(5):481-8. Epub 2016 Apr 15 doi: 10.1111/jon.12347. PMID: 27079165
Drawing connections between white matter and numerical and mathematical cognition: a literature review.
Matejko AA, Ansari D
Neurosci Biobehav Rev 2015 Jan;48:35-52. Epub 2014 Nov 15 doi: 10.1016/j.neubiorev.2014.11.006. PMID: 25446952
Neuroinflammation and white matter pathology in schizophrenia: systematic review.
Najjar S, Pearlman DM
Schizophr Res 2015 Jan;161(1):102-12. Epub 2014 Jun 16 doi: 10.1016/j.schres.2014.04.041. PMID: 24948485

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • OMIM
      Related records in OMIM
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...