U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Intracranial cystic lesion

MedGen UID:
866894
Concept ID:
C4021250
Finding
Synonym: Cerebral cystic malformation
 
HPO: HP:0010576

Definition

A cystic lesion originating within the brain. [from HPO]

Conditions with this feature

Acrocallosal syndrome
MedGen UID:
162915
Concept ID:
C0796147
Disease or Syndrome
Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.

Professional guidelines

PubMed

Del Brutto OH, Nash TE, White AC Jr, Rajshekhar V, Wilkins PP, Singh G, Vasquez CM, Salgado P, Gilman RH, Garcia HH
J Neurol Sci 2017 Jan 15;372:202-210. Epub 2016 Nov 21 doi: 10.1016/j.jns.2016.11.045. PMID: 28017213
Wang L, Zhang J, Wu Z, Jia G, Zhang L, Hao S, Geng S
Neurosurgery 2011 Jan;68(1):44-52; discussion 52. doi: 10.1227/NEU.0b013e3181fc5ee0. PMID: 21150754
Myers LL, Oxford LE
Surg Oncol Clin N Am 2004 Jan;13(1):167-86. doi: 10.1016/S1055-3207(03)00115-7. PMID: 15062368

Recent clinical studies

Diagnosis

Wang AY, Wong TT, Hsieh KL, Tsai ML, Yang C
Childs Nerv Syst 2022 Aug;38(8):1593-1597. Epub 2022 Jan 20 doi: 10.1007/s00381-021-05439-7. PMID: 35048169
Regaieg K, Bahloul M, Turki O, Kammoun B, Toumi N, Bouaziz M
Wilderness Environ Med 2018 Dec;29(4):546-548. Epub 2018 Oct 9 doi: 10.1016/j.wem.2018.07.003. PMID: 30309825
Wu CL, Tsai CY, Lin LS, Lee CC
Zhonghua Yi Xue Za Zhi (Taipei) 1994 Feb;53(2):116-9. PMID: 8167987

Therapy

Regaieg K, Bahloul M, Turki O, Kammoun B, Toumi N, Bouaziz M
Wilderness Environ Med 2018 Dec;29(4):546-548. Epub 2018 Oct 9 doi: 10.1016/j.wem.2018.07.003. PMID: 30309825

Prognosis

Morihara H, Zenke K, Shoda D, Fujiwara S, Suehiro S, Hatakeyama T
Neurol Med Chir (Tokyo) 2010;50(12):1126-8. doi: 10.2176/nmc.50.1126. PMID: 21206194

Clinical prediction guides

Wang AY, Wong TT, Hsieh KL, Tsai ML, Yang C
Childs Nerv Syst 2022 Aug;38(8):1593-1597. Epub 2022 Jan 20 doi: 10.1007/s00381-021-05439-7. PMID: 35048169

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

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...