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Central nervous system cyst

MedGen UID:
138106
Concept ID:
C0349606
Disease or Syndrome
Synonyms: Central Nervous System Cysts; CNS Cyst; CNS Cysts; Cyst, CNS; Cysts, Central Nervous System; Cysts, CNS
SNOMED CT: Cyst of central nervous system (277333006)
 
HPO: HP:0030724
Monarch Initiative: MONDO:0005262

Definition

A fluid-filled sac (cyst) located within the central nervous system. [from HPO]

Conditions with this feature

Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia
MedGen UID:
1786150
Concept ID:
C5543332
Disease or Syndrome
Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia (NEDFACH) is an autosomal recessive disorder characterized by global developmental delay and intellectual disability. The phenotype is variable: more severely affected individuals have poor overall growth with microcephaly, delayed walking, spasticity, and poor or absent speech, whereas others may achieve more significant developmental milestones and even attend special schooling. Brain imaging shows abnormalities of the cerebellum, most commonly cerebellar hypoplasia, although other features, such as thin corpus callosum and delayed myelination, may also be present. Dysmorphic facial features include sloping forehead, upslanting palpebral fissures, and hypertelorism. Additional more variable manifestations may include cardiac ventricular septal defect, spasticity, cataracts, optic nerve hypoplasia, seizures, and joint contractures (summary by Van Bergen et al., 2020).

Professional guidelines

PubMed

Zhao C, Zhou Z, Zhang Y, Qi X, Wang X, Lin D, Liu H, Wang Y, Weng C, Chen J, Hu W, Liao L, Lin Z
World Neurosurg 2022 Sep;165:e148-e158. Epub 2022 May 31 doi: 10.1016/j.wneu.2022.05.115. PMID: 35660482
Laks S, van Leeuwaarde R, Patel D, Keutgen XM, Hammel P, Nilubol N, Links TP, Halfdanarson TR, Daniels AB, Tirosh A; Pancreatic Manifestations Recommendations Development Subcommittee of the VHL Alliance
Cancer 2022 Feb 1;128(3):435-446. Epub 2021 Nov 4 doi: 10.1002/cncr.33978. PMID: 34735022
Ramírez-Zamora A, Alarcón T
Neurol Res 2010 Apr;32(3):229-37. doi: 10.1179/016164110X12644252260592. PMID: 20406600

Recent clinical studies

Diagnosis

McCandless SE, Robin NH
Am J Med Genet 1998 Jul 7;78(3):282-5. doi: 10.1002/(sici)1096-8628(19980707)78:3<282::aid-ajmg15>3.0.co;2-b. PMID: 9677067
Kuratsu J, Yoshizato K, Yoshimura T, Leonard EJ, Takeshima H, Ushio Y
J Natl Cancer Inst 1993 Nov 17;85(22):1836-9. doi: 10.1093/jnci/85.22.1836. PMID: 8230263

Prognosis

McCandless SE, Robin NH
Am J Med Genet 1998 Jul 7;78(3):282-5. doi: 10.1002/(sici)1096-8628(19980707)78:3<282::aid-ajmg15>3.0.co;2-b. PMID: 9677067

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