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Posterior fossa cyst

MedGen UID:
341753
Concept ID:
C1857353
Finding
Synonym: Posterior fossa cysts
 
HPO: HP:0007291

Definition

A discrete posterior fossa cerebrospinal fluid (CSF) collection that does not communicate directly with the fourth ventricle. [from HPO]

Conditions with this feature

Acrocephalosyndactyly type I
MedGen UID:
7858
Concept ID:
C0001193
Congenital Abnormality
Apert syndrome is characterized by the presence of multisuture craniosynostosis, midface retrusion, and syndactyly of the hands with fusion of the second through fourth nails. Almost all affected individuals have coronal craniosynostosis, and a majority also have involvement of the sagittal and lambdoid sutures. The midface in Apert syndrome is underdeveloped as well as retruded; a subset of affected individuals have cleft palate. The hand in Apert syndrome always includes fusion of the middle three digits; the thumb and fifth finger are sometimes also involved. Feeding issues, dental abnormalities, hearing loss, hyperhidrosis, and progressive synostosis of multiple bones (skull, hands, feet, carpus, tarsus, and cervical vertebrae) are also common. Multilevel airway obstruction may be present and can be due to narrowing of the nasal passages, tongue-based airway obstruction, and/or tracheal anomalies. Nonprogressive ventriculomegaly is present in a majority of individuals, with a small subset having true hydrocephalus. Most individuals with Apert syndrome have normal intelligence or mild intellectual disability; moderate-to-severe intellectual disability has been reported in some individuals. A minority of affected individuals have structural cardiac abnormalities, true gastrointestinal malformations, and anomalies of the genitourinary tract.
Gamma-aminobutyric acid transaminase deficiency
MedGen UID:
137977
Concept ID:
C0342708
Disease or Syndrome
GABA-transaminase deficiency is characterized by neonatal or early infantile-onset encephalopathy, hypotonia, hypersomnolence, epilepsy, choreoathetosis, and accelerated linear growth. Electroencephalograms show burst-suppression, modified hypsarrhythmia, multifocal spikes, and generalized spike-wave. Severity varies, but most patients have profound developmental impairment and some patients die in infancy (summary by Koenig et al., 2017).
Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
MedGen UID:
325006
Concept ID:
C1838347
Disease or Syndrome
A rare malformation disorder characterized by sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay.
Cerebrooculofacioskeletal syndrome 3
MedGen UID:
342008
Concept ID:
C1851443
Disease or Syndrome
Cerebrooculofacioskeletal syndrome is a severe, progressive neurologic disorder characterized by prenatal onset of arthrogryposis, microcephaly, and growth failure. Postnatal features include severe developmental delay, congenital cataracts (in some), and marked UV sensitivity of the skin. Survival beyond 6 years of age is rare. COFS represents the severe end of the spectrum of disorders caused by mutations in nucleotide excision repair (NER) genes, with Cockayne syndrome and xeroderma pigmentosum being milder NER-related phenotypes (summary by Drury et al., 2014). For a phenotypic description and a discussion of genetic heterogeneity of cerebrooculofacioskeletal syndrome, see COFS1 (214150).
Klippel-Feil syndrome 1, autosomal dominant
MedGen UID:
396196
Concept ID:
C1861689
Disease or Syndrome
Klippel-Feil syndrome is a bone disorder characterized by the abnormal joining (fusion) of two or more spinal bones in the neck (cervical vertebrae). The vertebral fusion is present from birth. Three major features result from this vertebral fusion: a short neck, the resulting appearance of a low hairline at the back of the head, and a limited range of motion in the neck. Most affected people have one or two of these characteristic features. Less than half of all individuals with Klippel-Feil syndrome have all three classic features of this condition.\n\nIn people with Klippel-Feil syndrome, the fused vertebrae can limit the range of movement of the neck and back as well as lead to chronic headaches and muscle pain in the neck and back that range in severity. People with minimal bone involvement often have fewer problems compared to individuals with several vertebrae affected. The shortened neck can cause a slight difference in the size and shape of the right and left sides of the face (facial asymmetry). Trauma to the spine, such as a fall or car accident, can aggravate problems in the fused area. Fusion of the vertebrae can lead to nerve damage in the head, neck, or back. Over time, individuals with Klippel-Feil syndrome can develop a narrowing of the spinal canal (spinal stenosis) in the neck, which can compress and damage the spinal cord. Rarely, spinal nerve abnormalities may cause abnormal sensations or involuntary movements in people with Klippel-Feil syndrome. Affected individuals may develop a painful joint disorder called osteoarthritis around the areas of fused bone or experience painful involuntary tensing of the neck muscles (cervical dystonia). In addition to the fused cervical bones, people with this condition may have abnormalities in other vertebrae. Many people with Klippel-Feil syndrome have abnormal side-to-side curvature of the spine (scoliosis) due to malformation of the vertebrae; fusion of additional vertebrae below the neck may also occur.\n\nPeople with Klippel-Feil syndrome may have a wide variety of other features in addition to their spine abnormalities. Some people with this condition have hearing difficulties, eye abnormalities, an opening in the roof of the mouth (cleft palate), genitourinary problems such as abnormal kidneys or reproductive organs, heart abnormalities, or lung defects that can cause breathing problems. Affected individuals may have other skeletal defects including arms or legs of unequal length (limb length discrepancy), which can result in misalignment of the hips or knees. Additionally, the shoulder blades may be underdeveloped so that they sit abnormally high on the back, a condition called Sprengel deformity. Rarely, structural brain abnormalities or a type of birth defect that occurs during the development of the brain and spinal cord (neural tube defect) can occur in people with Klippel-Feil syndrome.\n\nIn some cases, Klippel-Feil syndrome occurs as a feature of another disorder or syndrome, such as Wildervanck syndrome or hemifacial microsomia. In these instances, affected individuals have the signs and symptoms of both Klippel-Feil syndrome and the additional disorder.
Acroosteolysis-keloid-like lesions-premature aging syndrome
MedGen UID:
400936
Concept ID:
C1866182
Disease or Syndrome
Penttinen syndrome (PENTT) is characterized by a prematurely aged appearance involving lipoatrophy and epidermal and dermal atrophy, as well as hypertrophic lesions that resemble scars, thin hair, proptosis, underdeveloped cheekbones, and marked acroosteolysis (Johnston et al., 2015).
Craniofacial anomalies and anterior segment dysgenesis syndrome
MedGen UID:
481729
Concept ID:
C3280099
Disease or Syndrome
Joubert syndrome 21
MedGen UID:
816542
Concept ID:
C3810212
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.
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
MedGen UID:
924974
Concept ID:
C4284790
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 a genetically heterogeneous autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and early death. The phenotype commonly includes cobblestone (type II) lissencephaly, cerebellar malformations, and retinal malformations. More variable features include macrocephaly or microcephaly, hypoplasia of midline brain structures, ventricular dilatation, microphthalmia, cleft lip/palate, and congenital contractures (Dobyns et al., 1989). Those with a more severe phenotype characterized as Walker-Warburg syndrome often die within the first year of life, whereas those characterized as having muscle-eye-brain disease may rarely acquire the ability to walk and to speak a few words. These are part of a group of disorders resulting from defective glycosylation of DAG1 (128239), collectively known as 'dystroglycanopathies' (Godfrey et al., 2007). Genetic Heterogeneity of Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies (Type A) Muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is genetically heterogeneous and can be caused by mutation in other genes involved in DAG1 glycosylation: see MDDGA2 (613150), caused by mutation in the POMT2 gene (607439); MDDGA3 (253280), caused by mutation in the POMGNT1 gene (606822); MDDGA4 (253800), caused by mutation in the FKTN gene (607440); MDDGA5 (613153), caused by mutation in the FKRP gene (606596); MDDGA6 (613154), caused by mutation in the LARGE gene (603590); MDDGA7 (614643), caused by mutation in the ISPD gene (CRPPA; 614631); MDDGA8 (614830) caused by mutation in the GTDC2 gene (POMGNT2; 614828); MDDGA9 (616538), caused by mutation in the DAG1 gene (128239); MDDGA10 (615041), caused by mutation in the TMEM5 gene (RXYLT1; 605862); MDDGA11 (615181), caused by mutation in the B3GALNT2 gene (610194); MDDGA12 (615249), caused by mutation in the SGK196 gene (POMK; 615247); MDDGA13 (615287), caused by mutation in the B3GNT1 gene (B4GAT1; 605517); and MDDGA14 (615350), caused by mutation in the GMPPB gene (615320).
Ritscher-Schinzel syndrome 1
MedGen UID:
1634646
Concept ID:
C4551776
Disease or Syndrome
Ritscher-Schinzel syndrome (RSS) is a clinically recognizable condition that includes the cardinal findings of craniofacial features, cerebellar defects, and cardiovascular malformations resulting in the alternate diagnostic name of 3C syndrome. Dysmorphic facial features may include brachycephaly, hypotonic face with protruding tongue, flat appearance of the face on profile view, short midface, widely spaced eyes, downslanted palpebral fissures, low-set ears with overfolding of the upper helix, smooth or short philtrum, and high or cleft palate. Affected individuals also typically have a characteristic metacarpal phalangeal profile showing a consistent wavy pattern on hand radiographs. RSS is associated with variable degrees of developmental delay and intellectual disability. Eye anomalies and hypercholesterolemia may be variably present.
Holoprosencephaly 14
MedGen UID:
1811868
Concept ID:
C5676994
Disease or Syndrome
Holoprosencephaly-14 (HPE14) is an autosomal recessive condition characterized by severe developmental delay secondary to brain malformations within the holoprosencephaly spectrum (Drissi et al., 2022). For general phenotypic information and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (236100).

Professional guidelines

PubMed

Chanclud J, Valence S, Perre SV, Guilbaud L, Moutard ML, Jouannic JM, Ducou Le Pointe H, Blondiaux E, Garel C
Pediatr Radiol 2023 Mar;53(3):461-469. Epub 2022 Oct 24 doi: 10.1007/s00247-022-05531-3. PMID: 36274068
Klein O, Pierre-Kahn A, Boddaert N, Parisot D, Brunelle F
Childs Nerv Syst 2003 Aug;19(7-8):484-9. Epub 2003 Jul 16 doi: 10.1007/s00381-003-0782-5. PMID: 12879343
Nyberg DA, Cyr DR, Mack LA, Fitzsimmons J, Hickok D, Mahony BS
J Ultrasound Med 1988 Feb;7(2):65-71. doi: 10.7863/jum.1988.7.2.65. PMID: 3279226

Recent clinical studies

Etiology

Chanclud J, Valence S, Perre SV, Guilbaud L, Moutard ML, Jouannic JM, Ducou Le Pointe H, Blondiaux E, Garel C
Pediatr Radiol 2023 Mar;53(3):461-469. Epub 2022 Oct 24 doi: 10.1007/s00247-022-05531-3. PMID: 36274068
Teixeira SR, Blondiaux E, Cassart M, Couture A, Moutard ML, Whalen S, Gelot A, Ducou le Pointe H, Garel C; GRRIF (Groupe de Recherche Radiopédiatrique en Imagerie Fœtale)-SFIPP (Société Francophone d'Imagerie Pédiatrique et Prénatale)
Prenat Diagn 2015 Apr;35(4):337-41. Epub 2015 Jan 5 doi: 10.1002/pd.4543. PMID: 25475607
Fulkerson DH, Vogel TD, Baker AA, Patel NB, Ackerman LL, Smith JL, Boaz JC
J Neurosurg Pediatr 2011 May;7(5):549-56. doi: 10.3171/2011.2.PEDS10457. PMID: 21529198
Alkan O, Kizilkilic O, Yildirim T
Cerebellum 2009 Sep;8(3):355-65. Epub 2009 Apr 1 doi: 10.1007/s12311-009-0104-x. PMID: 19337779
Lee SR, Sanches J, Mark AS, Dillon WP, Norman D, Newton TH
Radiology 1989 May;171(2):463-8. doi: 10.1148/radiology.171.2.2704812. PMID: 2704812

Diagnosis

Chanclud J, Valence S, Perre SV, Guilbaud L, Moutard ML, Jouannic JM, Ducou Le Pointe H, Blondiaux E, Garel C
Pediatr Radiol 2023 Mar;53(3):461-469. Epub 2022 Oct 24 doi: 10.1007/s00247-022-05531-3. PMID: 36274068
Yadav A, Singh C, Dagar S, Shastri A, Prakash R, Thakur S
J Clin Ultrasound 2022 Nov;50(9):1312-1319. Epub 2022 Jun 22 doi: 10.1002/jcu.23261. PMID: 35730722
Correa GG, Amaral LF, Vedolin LM
Top Magn Reson Imaging 2011 Dec;22(6):303-12. doi: 10.1097/RMR.0b013e3182a2ca77. PMID: 24132069
Hussain Z, Masroor I, Haider QU, Alam T
J Coll Physicians Surg Pak 2011 Apr;21(4):242-4. PMID: 21453625
Alkan O, Kizilkilic O, Yildirim T
Cerebellum 2009 Sep;8(3):355-65. Epub 2009 Apr 1 doi: 10.1007/s12311-009-0104-x. PMID: 19337779

Therapy

Lee HC, Choi JW, Lee JY, Phi JH, Kim SK, Cho BK, Wang KC
Childs Nerv Syst 2017 Apr;33(4):665-670. Epub 2016 Nov 7 doi: 10.1007/s00381-016-3293-x. PMID: 27822765
Bermo M, Leung AS, Matesan M
Clin Nucl Med 2016 Jun;41(6):e307-9. doi: 10.1097/RLU.0000000000001177. PMID: 26914568
Sulkin TV, Cousens C
Clin Radiol 2008 Mar;63(3):289-98. Epub 2007 Nov 26 doi: 10.1016/j.crad.2007.08.004. PMID: 18275869
Mohanty A, Biswas A, Satish S, Praharaj SS, Sastry KV
J Neurosurg 2006 Nov;105(5 Suppl):348-56. doi: 10.3171/ped.2006.105.5.348. PMID: 17328256
van Dellen JR, Ford MA
S Afr Med J 1978 Jun 17;53(25):1034-6. PMID: 358428

Prognosis

Chanclud J, Valence S, Perre SV, Guilbaud L, Moutard ML, Jouannic JM, Ducou Le Pointe H, Blondiaux E, Garel C
Pediatr Radiol 2023 Mar;53(3):461-469. Epub 2022 Oct 24 doi: 10.1007/s00247-022-05531-3. PMID: 36274068
Sáez-Alegre M, Saceda Gutiérrez JM, Utrilla Contreras C, Aracil Santos FJ, García-Feijoo P, Carceller Benito F
Childs Nerv Syst 2021 Jul;37(7):2405-2408. Epub 2020 Oct 31 doi: 10.1007/s00381-020-04955-2. PMID: 33128604
Alexiou GA, Sfakianos G, Prodromou N
J Child Neurol 2010 Feb;25(2):188-91. Epub 2009 Oct 15 doi: 10.1177/0883073809338410. PMID: 19833975
Alkan O, Kizilkilic O, Yildirim T
Cerebellum 2009 Sep;8(3):355-65. Epub 2009 Apr 1 doi: 10.1007/s12311-009-0104-x. PMID: 19337779
Mohanty A, Biswas A, Satish S, Praharaj SS, Sastry KV
J Neurosurg 2006 Nov;105(5 Suppl):348-56. doi: 10.3171/ped.2006.105.5.348. PMID: 17328256

Clinical prediction guides

Dhandapani S, Sahoo SK
World Neurosurg 2019 Dec;132:e654-e664. Epub 2019 Aug 20 doi: 10.1016/j.wneu.2019.08.052. PMID: 31442641
Hirono S, Ito D, Murai H, Kobayashi M, Suyama M, Fujii K, Saeki N
Childs Nerv Syst 2014 Oct;30(10):1767-71. Epub 2014 Jun 7 doi: 10.1007/s00381-014-2458-8. PMID: 24907110
Notaridis G, Ebbing K, Giannakopoulos P, Bouras C, Kövari E
Neuropathol Appl Neurobiol 2006 Jun;32(3):344-50. doi: 10.1111/j.1365-2990.2006.00719.x. PMID: 16640653
Klein O, Pierre-Kahn A, Boddaert N, Parisot D, Brunelle F
Childs Nerv Syst 2003 Aug;19(7-8):484-9. Epub 2003 Jul 16 doi: 10.1007/s00381-003-0782-5. PMID: 12879343
Jauniaux E, Brown R, Snijders RJ, Noble P, Nicolaides KH
Am J Obstet Gynecol 1997 Mar;176(3):550-4. doi: 10.1016/s0002-9378(97)70546-5. PMID: 9077605

Recent systematic reviews

Dhandapani S, Sahoo SK
World Neurosurg 2019 Dec;132:e654-e664. Epub 2019 Aug 20 doi: 10.1016/j.wneu.2019.08.052. PMID: 31442641

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