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Cerebellar cyst

MedGen UID:
339835
Concept ID:
C1847762
Finding
Synonym: Cerebellar cysts
 
HPO: HP:0002350

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCerebellar cyst

Conditions with this feature

Asphyxiating thoracic dystrophy 3
MedGen UID:
19860
Concept ID:
C0036069
Disease or Syndrome
Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013). There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, 218330). For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (208500).
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
MedGen UID:
140820
Concept ID:
C0410174
Disease or Syndrome
Fukuyama congenital muscular dystrophy (FCMD) is characterized by hypotonia, symmetric generalized muscle weakness, and CNS migration disturbances that result in changes consistent with cobblestone lissencephaly with cerebral and cerebellar cortical dysplasia. Mild, typical, and severe phenotypes are recognized. Onset typically occurs in early infancy with poor suck, weak cry, and floppiness. Affected individuals have contractures of the hips, knees, and interphalangeal joints. Later features include myopathic facial appearance, pseudohypertrophy of the calves and forearms, motor and speech delays, intellectual disability, seizures, ophthalmologic abnormalities including visual impairment and retinal dysplasia, and progressive cardiac involvement after age ten years. Swallowing disturbance occurs in individuals with severe FCMD and in individuals older than age ten years, leading to recurrent aspiration pneumonia and death.
Orofaciodigital syndrome I
MedGen UID:
307142
Concept ID:
C1510460
Disease or Syndrome
Oral-facial-digital syndrome type I (OFD1) is usually male lethal during gestation and predominantly affects females. OFD1 is characterized by the following features: Oral (lobulated tongue, tongue nodules, cleft of the hard or soft palate, accessory gingival frenulae, hypodontia, and other dental abnormalities). Facial (widely spaced eyes or telecanthus, hypoplasia of the alae nasi, median cleft or pseudocleft upper lip, micrognathia). Digital (brachydactyly, syndactyly, clinodactyly of the fifth finger; duplicated hallux [great toe]). Kidney (polycystic kidney disease). Brain (e.g., intracerebral cysts, agenesis of the corpus callosum, cerebellar agenesis with or without Dandy-Walker malformation). Intellectual disability (in ~50% of individuals).
Muscular dystrophy-dystroglycanopathy type B5
MedGen UID:
335764
Concept ID:
C1847759
Disease or Syndrome
MDDGB5 is an autosomal recessive congenital muscular dystrophy with impaired intellectual development and structural brain abnormalities (Brockington et al., 2001). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (Mercuri et al., 2006). For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (613155).
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
MedGen UID:
461761
Concept ID:
C3150411
Disease or Syndrome
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 (128239), collectively known as 'dystroglycanopathies' (van Reeuwijk et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (236670).
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
MedGen UID:
461762
Concept ID:
C3150412
Disease or Syndrome
MDDGB3 is an autosomal recessive congenital muscular dystrophy with impaired intellectual development and mild brain abnormalities (Clement et al., 2008). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (Mercuri et al., 2009). For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (613155).
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
MedGen UID:
461763
Concept ID:
C3150413
Disease or Syndrome
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 (128239), collectively known as 'dystroglycanopathies' (Beltran-Valero de Bernabe et al., 2004). For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (236670).
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
MedGen UID:
462869
Concept ID:
C3151519
Disease or Syndrome
An autosomal recessive muscular dystrophy caused by mutations in the POMGNT1 gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life.
Pontocerebellar hypoplasia type 1B
MedGen UID:
766363
Concept ID:
C3553449
Disease or Syndrome
EXOSC3 pontocerebellar hypoplasia (EXOSC3-PCH) is characterized by abnormalities in the posterior fossa and degeneration of the anterior horn cells. At birth, skeletal muscle weakness manifests as hypotonia (sometimes with congenital joint contractures) and poor feeding. In persons with prolonged survival, spasticity, dystonia, and seizures become evident. Within the first year of life respiratory insufficiency and swallowing difficulties are common. Intellectual disability is severe. Life expectancy ranges from a few weeks to adolescence. To date, 82 individuals (from 58 families) with EXOSC3-PCH have been described.
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
MedGen UID:
767552
Concept ID:
C3554638
Disease or Syndrome
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with congenital muscular dystrophy resulting in muscle weakness early in life and brain and eye anomalies. It is usually associated with delayed psychomotor development and shortened life expectancy. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (summary by Stevens et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (236670).
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
MedGen UID:
863258
Concept ID:
C4014821
Disease or Syndrome
Poretti-Boltshauser syndrome is an autosomal recessive disorder characterized by cerebellar dysplasia, cerebellar vermis hypoplasia, cerebellar cysts in most patients, high myopia, variable retinal dystrophy, and eye movement abnormalities. Affected individuals have delayed motor development and often have speech delay. Cognitive function can range from normal to intellectually disabled (summary by Aldinger et al., 2014).
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
MedGen UID:
902513
Concept ID:
C4225291
Disease or Syndrome
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, and congenital muscular dystrophy. The phenotype includes the alternative clinical designation Walker-Warburg syndrome (WWS), which is associated with death in infancy. The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1), collectively known as 'dystroglycanopathies' (summary by Geis et al., 2013 and Riemersma et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (236670).
Mayer-Rokitansky-Küster-Hauser syndrome type 2
MedGen UID:
931237
Concept ID:
C4305568
Disease or Syndrome
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 2, a form of MRKH syndrome (see this term), is characterized by congenital aplasia of the uterus and upper 2/3 of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects. The acronym MURCS (MÜllerian duct aplasia, Renal dysplasia, Cervical Somite anomalies) is also used.
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome
MedGen UID:
1675672
Concept ID:
C5193040
Disease or Syndrome
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome is an autosomal recessive disorder with a highly variable phenotype. Although all patients have polymicrogyria and other variable structural brain anomalies on imaging, only some show developmental delay and/or seizures. Similarly, only some patients have connective tissue defects that particularly affect the vascular system and can result in early death (summary by Vandervore et al., 2017).

Professional guidelines

PubMed

Spahiu L, Behluli E, Grajçevci-Uka V, Liehr T, Temaj G
J Mother Child 2022 Mar 1;26(1):118-123. Epub 2023 Feb 22 doi: 10.34763/jmotherandchild.20222601.d-22-00034. PMID: 36803942Free PMC Article
de Silva RN, Vallortigara J, Greenfield J, Hunt B, Giunti P, Hadjivassiliou M
Pract Neurol 2019 Jun;19(3):196-207. Epub 2019 May 2 doi: 10.1136/practneurol-2018-002096. PMID: 31048364Free PMC Article
Mitoma H, Manto M, Hampe CS
Curr Neuropharmacol 2019;17(1):33-58. doi: 10.2174/1570159X16666180917105033. PMID: 30221603Free PMC Article

Recent clinical studies

Etiology

Cui Y, Yang ZX, Wang CM, Zhu ZP
J Int Med Res 2020 Jul;48(7):300060520932118. doi: 10.1177/0300060520932118. PMID: 32701371Free PMC Article

Diagnosis

Cui Y, Yang ZX, Wang CM, Zhu ZP
J Int Med Res 2020 Jul;48(7):300060520932118. doi: 10.1177/0300060520932118. PMID: 32701371Free PMC Article
Efe IE, Aydin OU, Alabulut A, Celik O, Aydin K
World Neurosurg 2020 Jul;139:410-414. Epub 2020 May 4 doi: 10.1016/j.wneu.2020.04.189. PMID: 32376377
Igari Y, Hosoya T, Hayashizaki Y, Usui A, Kawasumi Y, Usui K, Funayama M
Forensic Sci Int 2014 Dec;245:e25-8. Epub 2014 Oct 14 doi: 10.1016/j.forsciint.2014.10.017. PMID: 25459277
Dogan Y, Yuksel A, Kalelioglu IH, Has R, Tatli B, Yildirim A
Fetal Diagn Ther 2011;30(2):141-9. Epub 2011 Sep 29 doi: 10.1159/000330636. PMID: 21952353
Panteliadis CP, Karatza ED, Tzitiridou MK, Koliouskas DE, Spiroglou KS
Pediatr Neurol 2003 Jul;29(1):59-62. doi: 10.1016/s0887-8994(03)00041-9. PMID: 13679124

Therapy

Sharif R, Moscovici S, Wygoda M, Eliahou R, Spektor S
J Clin Neurosci 2016 Dec;34:219-221. Epub 2016 Jul 21 doi: 10.1016/j.jocn.2016.05.019. PMID: 27448516

Prognosis

Efe IE, Aydin OU, Alabulut A, Celik O, Aydin K
World Neurosurg 2020 Jul;139:410-414. Epub 2020 May 4 doi: 10.1016/j.wneu.2020.04.189. PMID: 32376377
Krźelj V, Kragić I, Glavina-Durdov M, Jakl R, Bucat M, Kuzmić-Prusac I
Turk J Pediatr 2000 Jul-Sep;42(3):234-8. PMID: 11105625

Clinical prediction guides

Igari Y, Hosoya T, Hayashizaki Y, Usui A, Kawasumi Y, Usui K, Funayama M
Forensic Sci Int 2014 Dec;245:e25-8. Epub 2014 Oct 14 doi: 10.1016/j.forsciint.2014.10.017. PMID: 25459277
Yoder BJ, Prayson RA
Clin Neuropathol 2002 Sep-Oct;21(5):236-40. PMID: 12365727
Othmane IS, Shields C, Singh A, Shields J, Goldman W
Am J Ophthalmol 1999 Sep;128(3):387-9. doi: 10.1016/s0002-9394(99)00199-3. PMID: 10511048

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