U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Enlarged brainstem

MedGen UID:
868347
•Concept ID:
C4022741
•
Finding
HPO: HP:0012755

Definition

Abnormal increase in size of the brainstem. [from HPO]

Professional guidelines

PubMed

SMPD1 expression profile and mutation landscape help decipher genotype-phenotype association and precision diagnosis for acid sphingomyelinase deficiency.
Wang R, Qin Z, Huang L, Luo H, Peng H, Zhou X, Zhao Z, Liu M, Yang P, Shi T
Hereditas 2023 Mar 13;160(1):11. doi: 10.1186/s41065-023-00272-1. PMID: 36907956Free PMC Article
Clinicopathological investigation of vascular parkinsonism, including clinical criteria for diagnosis.
Zijlmans JC, Daniel SE, Hughes AJ, Révész T, Lees AJ
Mov Disord 2004 Jun;19(6):630-40. doi: 10.1002/mds.20083. PMID: 15197700
Management of acute neurologic syndromes in infants and children.
Shaywitz BA
Yale J Biol Med 1984 Jan-Feb;57(1):83-95. PMID: 6375166Free PMC Article

Recent clinical studies

Etiology

Refining the Neuroimaging Definition of the Dandy-Walker Phenotype.
Whitehead MT, Barkovich MJ, Sidpra J, Alves CA, Mirsky DM, Öztekin Ö, Bhattacharya D, Lucato LT, Sudhakar S, Taranath A, Andronikou S, Prabhu SP, Aldinger KA, Haldipur P, Millen KJ, Barkovich AJ, Boltshauser E, Dobyns WB, Mankad K
AJNR Am J Neuroradiol 2022 Oct;43(10):1488-1493. Epub 2022 Sep 22 doi: 10.3174/ajnr.A7659. PMID: 36137655Free PMC Article
Impaired neurogenesis alters brain biomechanics in a neuroprogenitor-based genetic subtype of congenital hydrocephalus.
Duy PQ, Weise SC, Marini C, Li XJ, Liang D, Dahl PJ, Ma S, Spajic A, Dong W, Juusola J, Kiziltug E, Kundishora AJ, Koundal S, Pedram MZ, Torres-Fernández LA, Händler K, De Domenico E, Becker M, Ulas T, Juranek SA, Cuevas E, Hao LT, Jux B, Sousa AMM, Liu F, Kim SK, Li M, Yang Y, Takeo Y, Duque A, Nelson-Williams C, Ha Y, Selvaganesan K, Robert SM, Singh AK, Allington G, Furey CG, Timberlake AT, Reeves BC, Smith H, Dunbar A, DeSpenza T Jr, Goto J, Marlier A, Moreno-De-Luca A, Yu X, Butler WE, Carter BS, Lake EMR, Constable RT, Rakic P, Lin H, Deniz E, Benveniste H, Malvankar NS, Estrada-Veras JI, Walsh CA, Alper SL, Schultze JL, Paeschke K, Doetzlhofer A, Wulczyn FG, Jin SC, Lifton RP, Sestan N, Kolanus W, Kahle KT
Nat Neurosci 2022 Apr;25(4):458-473. Epub 2022 Apr 4 doi: 10.1038/s41593-022-01043-3. PMID: 35379995Free PMC Article
ApoE-Isoform-Dependent SARS-CoV-2 Neurotropism and Cellular Response.
Wang C, Zhang M, Garcia G Jr, Tian E, Cui Q, Chen X, Sun G, Wang J, Arumugaswami V, Shi Y
Cell Stem Cell 2021 Feb 4;28(2):331-342.e5. Epub 2021 Jan 4 doi: 10.1016/j.stem.2020.12.018. PMID: 33450186Free PMC Article
Nonprogressive congenital ataxias.
Bertini E, Zanni G, Boltshauser E
Handb Clin Neurol 2018;155:91-103. doi: 10.1016/B978-0-444-64189-2.00006-8. PMID: 29891079
Gliomatosis cerebri.
del Carpio-O'Donovan R, Korah I, Salazar A, Melançon D
Radiology 1996 Mar;198(3):831-5. doi: 10.1148/radiology.198.3.8628879. PMID: 8628879

Diagnosis

Unilateral periocular spasm.
Walker C
JAAPA 2024 Feb 1;37(2):1-4. doi: 10.1097/01.JAA.0000995640.85221.b0. PMID: 38270661
Refining the Neuroimaging Definition of the Dandy-Walker Phenotype.
Whitehead MT, Barkovich MJ, Sidpra J, Alves CA, Mirsky DM, Öztekin Ö, Bhattacharya D, Lucato LT, Sudhakar S, Taranath A, Andronikou S, Prabhu SP, Aldinger KA, Haldipur P, Millen KJ, Barkovich AJ, Boltshauser E, Dobyns WB, Mankad K
AJNR Am J Neuroradiol 2022 Oct;43(10):1488-1493. Epub 2022 Sep 22 doi: 10.3174/ajnr.A7659. PMID: 36137655Free PMC Article
Hypertrophic olivary degeneration: A comprehensive review focusing on etiology.
Wang H, Wang Y, Wang R, Li Y, Wang P, Li J, Du J
Brain Res 2019 Sep 1;1718:53-63. Epub 2019 Apr 23 doi: 10.1016/j.brainres.2019.04.024. PMID: 31026459
Neuroimaging of Dandy-Walker malformation: new concepts.
Correa GG, Amaral LF, Vedolin LM
Top Magn Reson Imaging 2011 Dec;22(6):303-12. doi: 10.1097/RMR.0b013e3182a2ca77. PMID: 24132069
Gliomatosis cerebri.
del Carpio-O'Donovan R, Korah I, Salazar A, Melançon D
Radiology 1996 Mar;198(3):831-5. doi: 10.1148/radiology.198.3.8628879. PMID: 8628879

Therapy

Inhaled seralutinib exhibits potent efficacy in models of pulmonary arterial hypertension.
Galkin A, Sitapara R, Clemons B, Garcia E, Kennedy M, Guimond D, Carter LL, Douthitt A, Osterhout R, Gandjeva A, Slee D, Salter-Cid L, Tuder RM, Zisman LS
Eur Respir J 2022 Dec;60(6) Epub 2022 Dec 1 doi: 10.1183/13993003.02356-2021. PMID: 35680144Free PMC Article
Investigation of product-derived lymphoma following infusion of piggyBac-modified CD19 chimeric antigen receptor T cells.
Micklethwaite KP, Gowrishankar K, Gloss BS, Li Z, Street JA, Moezzi L, Mach MA, Sutrave G, Clancy LE, Bishop DC, Louie RHY, Cai C, Foox J, MacKay M, Sedlazeck FJ, Blombery P, Mason CE, Luciani F, Gottlieb DJ, Blyth E
Blood 2021 Oct 21;138(16):1391-1405. doi: 10.1182/blood.2021010858. PMID: 33974080Free PMC Article
The behavior of residual tumors and facial nerve outcomes after incomplete excision of vestibular schwannomas.
Chen Z, Prasad SC, Di Lella F, Medina M, Piccirillo E, Taibah A, Russo A, Yin S, Sanna M
J Neurosurg 2014 Jun;120(6):1278-87. Epub 2014 Apr 11 doi: 10.3171/2014.2.JNS131497. PMID: 24724851
Solving the mystery of the human cerebellum.
Leiner HC
Neuropsychol Rev 2010 Sep;20(3):229-35. Epub 2010 Sep 1 doi: 10.1007/s11065-010-9140-z. PMID: 20809199
Cervical artery dissections.
Leys D, Lucas C, Gobert M, Deklunder G, Pruvo JP
Eur Neurol 1997;37(1):3-12. doi: 10.1159/000117396. PMID: 9018025

Prognosis

Unilateral periocular spasm.
Walker C
JAAPA 2024 Feb 1;37(2):1-4. doi: 10.1097/01.JAA.0000995640.85221.b0. PMID: 38270661
Hydrocephalus in Vein of Galen Malformations.
Paramasivam S
Neurol India 2021 Nov-Dec;69(Supplement):S376-S379. doi: 10.4103/0028-3886.332279. PMID: 35102992
Nonprogressive congenital ataxias.
Bertini E, Zanni G, Boltshauser E
Handb Clin Neurol 2018;155:91-103. doi: 10.1016/B978-0-444-64189-2.00006-8. PMID: 29891079
Neurogenesis, inflammation and behavior.
Kohman RA, Rhodes JS
Brain Behav Immun 2013 Jan;27(1):22-32. Epub 2012 Sep 15 doi: 10.1016/j.bbi.2012.09.003. PMID: 22985767Free PMC Article
Cervical artery dissections.
Leys D, Lucas C, Gobert M, Deklunder G, Pruvo JP
Eur Neurol 1997;37(1):3-12. doi: 10.1159/000117396. PMID: 9018025

Clinical prediction guides

Rethinking the cilia hypothesis of hydrocephalus.
Duy PQ, Greenberg ABW, Butler WE, Kahle KT
Neurobiol Dis 2022 Dec;175:105913. Epub 2022 Oct 29 doi: 10.1016/j.nbd.2022.105913. PMID: 36341771
Cerebellar morphometric and spectroscopic biomarkers for Machado-Joseph Disease.
Miranda CO, Nobre RJ, Paiva VH, Duarte JV, Castelhano J, Petrella LI, Sereno J, Santana M, Afonso S, Januário C, Castelo-Branco M, de Almeida LP
Acta Neuropathol Commun 2022 Mar 19;10(1):37. doi: 10.1186/s40478-022-01329-4. PMID: 35305685Free PMC Article
AIF3 splicing switch triggers neurodegeneration.
Liu S, Zhou M, Ruan Z, Wang Y, Chang C, Sasaki M, Rajaram V, Lemoff A, Nambiar K, Wang JE, Hatanpaa KJ, Luo W, Dawson TM, Dawson VL, Wang Y
Mol Neurodegener 2021 Apr 14;16(1):25. doi: 10.1186/s13024-021-00442-7. PMID: 33853653Free PMC Article
New insights into the development of the human cerebral cortex.
Molnár Z, Clowry GJ, Šestan N, Alzu'bi A, Bakken T, Hevner RF, Hüppi PS, Kostović I, Rakic P, Anton ES, Edwards D, Garcez P, Hoerder-Suabedissen A, Kriegstein A
J Anat 2019 Sep;235(3):432-451. Epub 2019 Aug 2 doi: 10.1111/joa.13055. PMID: 31373394Free PMC Article
Neurogenesis, inflammation and behavior.
Kohman RA, Rhodes JS
Brain Behav Immun 2013 Jan;27(1):22-32. Epub 2012 Sep 15 doi: 10.1016/j.bbi.2012.09.003. PMID: 22985767Free PMC Article

Recent systematic reviews

Characteristics of Developmental and Epileptic Encephalopathy Associated with PACS2 p.Glu209Lys Pathogenic Variant-Our Experience and Systematic Review of the Literature.
Stoian A, Bajko Z, Bălașa R, Andone S, Stoian M, Ormenișan I, Muntean C, Bănescu C
Biomolecules 2024 Feb 23;14(3) doi: 10.3390/biom14030270. PMID: 38540691Free PMC Article
Eagle jugular syndrome accompanied by de novo brainstem cavernous malformation: a case-based systematic review.
Motoyama Y, Sasaki H, Nakajima T, Hayami H, Matsuoka R, Fukutome K, Tei R, Shin Y, Aketa S
Acta Neurochir (Wien) 2024 Jan 17;166(1):20. doi: 10.1007/s00701-024-05900-x. PMID: 38231302
The Guillain-Mollaret triangle: a key player in motor coordination and control with implications for neurological disorders.
Ogut E, Armagan K, Tufekci D
Neurosurg Rev 2023 Jul 20;46(1):181. doi: 10.1007/s10143-023-02086-1. PMID: 37468768
High incidence of progressive postnatal cerebellar enlargement in Costello syndrome: brain overgrowth associated with HRAS mutations as the likely cause of structural brain and spinal cord abnormalities.
Gripp KW, Hopkins E, Doyle D, Dobyns WB
Am J Med Genet A 2010 May;152A(5):1161-8. doi: 10.1002/ajmg.a.33391. PMID: 20425820Free PMC Article
Towards a neuroanatomy of autism: a systematic review and meta-analysis of structural magnetic resonance imaging studies.
Stanfield AC, McIntosh AM, Spencer MD, Philip R, Gaur S, Lawrie SM
Eur Psychiatry 2008 Jun;23(4):289-99. Epub 2007 Aug 31 doi: 10.1016/j.eurpsy.2007.05.006. PMID: 17765485

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

    • 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...