Skip to main content
Top
Published in: The Cerebellum 3/2015

01-06-2015 | Review

Cerebellar Cysts in Children: a Pattern Recognition Approach

Authors: Eugen Boltshauser, Ianina Scheer, Thierry A. G. M. Huisman, Andrea Poretti

Published in: The Cerebellum | Issue 3/2015

Login to get access

Abstract

Cerebellar cysts may be seen in selected genetic disorders and acquired anomalies. Here, we review our experience, excluding cystic tumors and parasitic cysts. The pathogenesis is heterogeneous: Cysts may involve/represent normal structures (e.g., Virchow-Robin spaces), be “destructive” (such as in some types of pontocerebellar hypoplasias), “malformative” (such as in some forms of congenital muscular dystrophies and GPR56-related migration disorders), or “disruptive” (such as in some cerebellar dysplasias). The provided checklist may be useful in deciding targeted diagnostic workup.
Literature
1.
go back to reference Poretti A, Boltshauser E. Cerebellar cysts and neuroimaging in congenital muscular dystrophies. In: Boltshauser E, Schmahmann JD, editors. Cerebellar disorders in children. London: MacKeith Press; 2012. p. 177–83. Poretti A, Boltshauser E. Cerebellar cysts and neuroimaging in congenital muscular dystrophies. In: Boltshauser E, Schmahmann JD, editors. Cerebellar disorders in children. London: MacKeith Press; 2012. p. 177–83.
2.
go back to reference Barkovich AJ, Raybaud C. Pediatric neuroimaging. 5th ed. Philadelphia: Lippincott Williams & Wilkins; 2012. Barkovich AJ, Raybaud C. Pediatric neuroimaging. 5th ed. Philadelphia: Lippincott Williams & Wilkins; 2012.
3.
go back to reference Osborn AG. Osborn’s brain: imaging, pathology, and anatomy. Philadelphia: Lippincott Williams & Wilkins; 2012. Osborn AG. Osborn’s brain: imaging, pathology, and anatomy. Philadelphia: Lippincott Williams & Wilkins; 2012.
4.
go back to reference Nickerson JP, Richner B, Santy K, et al. Neuroimaging of pediatric intracranial infection-part 2: TORCH, viral, fungal, and parasitic infections. J Neuroimaging. 2012;22:e52–63.CrossRefPubMed Nickerson JP, Richner B, Santy K, et al. Neuroimaging of pediatric intracranial infection-part 2: TORCH, viral, fungal, and parasitic infections. J Neuroimaging. 2012;22:e52–63.CrossRefPubMed
5.
go back to reference Poretti A, Meoded A, Huisman TA. Neuroimaging of pediatric posterior fossa tumors including review of the literature. J Magn Reson Imaging. 2012;35:32–47.CrossRefPubMed Poretti A, Meoded A, Huisman TA. Neuroimaging of pediatric posterior fossa tumors including review of the literature. J Magn Reson Imaging. 2012;35:32–47.CrossRefPubMed
7.
go back to reference Hennekam RC, Biesecker LG, Allanson JE, et al. Elements of morphology: general terms for congenital anomalies. Am J Med Genet A. 2013;161A:2726–33.CrossRefPubMed Hennekam RC, Biesecker LG, Allanson JE, et al. Elements of morphology: general terms for congenital anomalies. Am J Med Genet A. 2013;161A:2726–33.CrossRefPubMed
8.
go back to reference Zafeiriou DI, Batzios SP. Brain and spinal MR imaging findings in mucopolysaccharidoses: a review. AJNR Am J Neuroradiol. 2013;34:5–13.CrossRefPubMed Zafeiriou DI, Batzios SP. Brain and spinal MR imaging findings in mucopolysaccharidoses: a review. AJNR Am J Neuroradiol. 2013;34:5–13.CrossRefPubMed
9.
go back to reference Alqahtani E, Huisman TA, Boltshauser E, et al. Mucopolysaccharidoses type I and II: new neuroimaging findings in the cerebellum. Eur J Paediatr Neurol. 2014;18:211–7.CrossRefPubMed Alqahtani E, Huisman TA, Boltshauser E, et al. Mucopolysaccharidoses type I and II: new neuroimaging findings in the cerebellum. Eur J Paediatr Neurol. 2014;18:211–7.CrossRefPubMed
10.
go back to reference Goh RH, Maguire J. Neuroepithelial cyst of the posterior fossa: two case reports with radiologic-pathologic correlation. Can Assoc Radiol J. 1996;47:126–31.PubMed Goh RH, Maguire J. Neuroepithelial cyst of the posterior fossa: two case reports with radiologic-pathologic correlation. Can Assoc Radiol J. 1996;47:126–31.PubMed
11.
go back to reference Marsh SE, Grattan-Smith P, Pereira J, Barkovich AJ, Gleeson JG. Neuroepithelial cysts in a patient with Joubert syndrome plus renal cysts. J Child Neurol. 2004;19:227–31.PubMed Marsh SE, Grattan-Smith P, Pereira J, Barkovich AJ, Gleeson JG. Neuroepithelial cysts in a patient with Joubert syndrome plus renal cysts. J Child Neurol. 2004;19:227–31.PubMed
12.
go back to reference Poretti A, Huisman TA, Scheer I, Boltshauser E. Joubert syndrome and related disorders: spectrum of neuroimaging findings in 75 patients. AJNR Am J Neuroradiol. 2011;32:1459–63.CrossRefPubMed Poretti A, Huisman TA, Scheer I, Boltshauser E. Joubert syndrome and related disorders: spectrum of neuroimaging findings in 75 patients. AJNR Am J Neuroradiol. 2011;32:1459–63.CrossRefPubMed
13.
go back to reference Rudnik-Schoneborn S, Barth PG, Zerres K. Pontocerebellar hypoplasia. Am J Med Genet C: Semin Med Genet. 2014;166C:173–83.CrossRef Rudnik-Schoneborn S, Barth PG, Zerres K. Pontocerebellar hypoplasia. Am J Med Genet C: Semin Med Genet. 2014;166C:173–83.CrossRef
14.
go back to reference Barth PG. Pontocerebellar hypoplasias. An overview of a group of inherited neurodegenerative disorders with fetal onset. Brain Dev. 1993;15:411–22.CrossRefPubMed Barth PG. Pontocerebellar hypoplasias. An overview of a group of inherited neurodegenerative disorders with fetal onset. Brain Dev. 1993;15:411–22.CrossRefPubMed
15.
16.
go back to reference Namavar Y, Barth PG, Kasher PR, et al. Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia. Brain. 2011;134:143–56.CrossRefPubMed Namavar Y, Barth PG, Kasher PR, et al. Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia. Brain. 2011;134:143–56.CrossRefPubMed
17.
go back to reference Eggens VR, Barth PG, Niermeijer JM, et al. EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations. Orphanet J Rare Dis. 2014;9:23.CrossRefPubMedCentralPubMed Eggens VR, Barth PG, Niermeijer JM, et al. EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations. Orphanet J Rare Dis. 2014;9:23.CrossRefPubMedCentralPubMed
18.
go back to reference Glamuzina E, Brown R, Hogarth K, et al. Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2. J Inherit Metab Dis. 2012;35:459–67.CrossRefPubMed Glamuzina E, Brown R, Hogarth K, et al. Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2. J Inherit Metab Dis. 2012;35:459–67.CrossRefPubMed
19.
go back to reference Cassandrini D, Cilio MR, Bianchi M, et al. Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients. J Inherit Metab Dis. 2013;36:43–53.CrossRefPubMed Cassandrini D, Cilio MR, Bianchi M, et al. Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients. J Inherit Metab Dis. 2013;36:43–53.CrossRefPubMed
20.
go back to reference Kastrissianakis K, Anand G, Quaghebeur G, et al. Subdural effusions and lack of early pontocerebellar hypoplasia in siblings with RARS2 mutations. Arch Dis Child. 2013;98:1004–7.CrossRefPubMed Kastrissianakis K, Anand G, Quaghebeur G, et al. Subdural effusions and lack of early pontocerebellar hypoplasia in siblings with RARS2 mutations. Arch Dis Child. 2013;98:1004–7.CrossRefPubMed
22.
go back to reference Bahi-Buisson N, Poirier K, Boddaert N, et al. GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex. Brain. 2010;133:3194–209.CrossRefPubMed Bahi-Buisson N, Poirier K, Boddaert N, et al. GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex. Brain. 2010;133:3194–209.CrossRefPubMed
24.
go back to reference Quattrocchi CC, Zanni G, Napolitano A, et al. Conventional magnetic resonance imaging and diffusion tensor imaging studies in children with novel GPR56 mutations: further delineation of a cobblestone-like phenotype. Neurogenetics. 2013;14:77–83.CrossRefPubMed Quattrocchi CC, Zanni G, Napolitano A, et al. Conventional magnetic resonance imaging and diffusion tensor imaging studies in children with novel GPR56 mutations: further delineation of a cobblestone-like phenotype. Neurogenetics. 2013;14:77–83.CrossRefPubMed
25.
go back to reference Fujii Y, Ishikawa N, Kobayashi Y, Kobayashi M, Kato M. Compound heterozygosity in GPR56 with bilateral frontoparietal polymicrogyria. Brain Dev. 2013;36:528–31.CrossRefPubMed Fujii Y, Ishikawa N, Kobayashi Y, Kobayashi M, Kato M. Compound heterozygosity in GPR56 with bilateral frontoparietal polymicrogyria. Brain Dev. 2013;36:528–31.CrossRefPubMed
28.
go back to reference Clement E, Mercuri E, Godfrey C, et al. Brain involvement in muscular dystrophies with defective dystroglycan glycosylation. Ann Neurol. 2008;64:573–82.CrossRefPubMed Clement E, Mercuri E, Godfrey C, et al. Brain involvement in muscular dystrophies with defective dystroglycan glycosylation. Ann Neurol. 2008;64:573–82.CrossRefPubMed
29.
go back to reference Aida N, Yagishita A, Takada K, Katsumata Y. Cerebellar MR in Fukuyama congenital muscular dystrophy: polymicrogyria with cystic lesions. AJNR Am J Neuroradiol. 1994;15:1755–9.PubMed Aida N, Yagishita A, Takada K, Katsumata Y. Cerebellar MR in Fukuyama congenital muscular dystrophy: polymicrogyria with cystic lesions. AJNR Am J Neuroradiol. 1994;15:1755–9.PubMed
30.
go back to reference Bonnemann CG, Wang CH, Quijano-Roy S, et al. Diagnostic approach to the congenital muscular dystrophies. Neuromuscul Disord. 2014;24:289–311.CrossRefPubMed Bonnemann CG, Wang CH, Quijano-Roy S, et al. Diagnostic approach to the congenital muscular dystrophies. Neuromuscul Disord. 2014;24:289–311.CrossRefPubMed
31.
go back to reference Freeze HH, Chong JX, Bamshad MJ, Ng BG. Solving glycosylation disorders: fundamental approaches reveal complicated pathways. Am J Hum Genet. 2014;94:161–75.CrossRefPubMedCentralPubMed Freeze HH, Chong JX, Bamshad MJ, Ng BG. Solving glycosylation disorders: fundamental approaches reveal complicated pathways. Am J Hum Genet. 2014;94:161–75.CrossRefPubMedCentralPubMed
32.
go back to reference Talim B, Ferreiro A, Cormand B, et al. Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts unlinked to the LAMA2, FCMD and MEB loci. Neuromuscul Disord. 2000;10:548–52.CrossRefPubMed Talim B, Ferreiro A, Cormand B, et al. Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts unlinked to the LAMA2, FCMD and MEB loci. Neuromuscul Disord. 2000;10:548–52.CrossRefPubMed
33.
go back to reference Triki C, Louhichi N, Meziou M, et al. Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts, unlinked to the LAMA2, FCMD, MEB and CMD1B loci, in three Tunisian patients. Neuromuscul Disord. 2003;13:4–12.CrossRefPubMed Triki C, Louhichi N, Meziou M, et al. Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts, unlinked to the LAMA2, FCMD, MEB and CMD1B loci, in three Tunisian patients. Neuromuscul Disord. 2003;13:4–12.CrossRefPubMed
34.
go back to reference Rathod SB, Baheti AD, Dabhade PT, Sankhe SS. Walker-Warburg syndrome: demonstration of cerebellar cysts with CISS sequence. Magn Reson Med Sci. 2012;11:137–40.CrossRefPubMed Rathod SB, Baheti AD, Dabhade PT, Sankhe SS. Walker-Warburg syndrome: demonstration of cerebellar cysts with CISS sequence. Magn Reson Med Sci. 2012;11:137–40.CrossRefPubMed
35.
go back to reference Cirak S, Foley AR, Herrmann R, et al. ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies. Brain. 2013;136:269–81.CrossRefPubMedCentralPubMed Cirak S, Foley AR, Herrmann R, et al. ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies. Brain. 2013;136:269–81.CrossRefPubMedCentralPubMed
36.
go back to reference Hedberg C, Oldfors A, Darin N. B3GALNT2 is a gene associated with congenital muscular dystrophy with brain malformations. Eur J Hum Genet. 2014;22:707–10.CrossRefPubMedCentralPubMed Hedberg C, Oldfors A, Darin N. B3GALNT2 is a gene associated with congenital muscular dystrophy with brain malformations. Eur J Hum Genet. 2014;22:707–10.CrossRefPubMedCentralPubMed
37.
go back to reference Geis T, Marquard K, Rodl T, et al. Homozygous dystroglycan mutation associated with a novel muscle-eye-brain disease-like phenotype with multicystic leucodystrophy. Neurogenetics. 2013;14:205–13.CrossRefPubMed Geis T, Marquard K, Rodl T, et al. Homozygous dystroglycan mutation associated with a novel muscle-eye-brain disease-like phenotype with multicystic leucodystrophy. Neurogenetics. 2013;14:205–13.CrossRefPubMed
38.
go back to reference Poretti A, Häusler M, Von Moers A, et al. Ataxia, intellectual disability, and ocular apraxia with cerebellar cysts: a new disease? Cerebellum. 2014;13:79–88.CrossRefPubMed Poretti A, Häusler M, Von Moers A, et al. Ataxia, intellectual disability, and ocular apraxia with cerebellar cysts: a new disease? Cerebellum. 2014;13:79–88.CrossRefPubMed
39.
go back to reference Aldinger KA, Mosca SJ, Tetreault M, et al. Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy. Am J Hum Genet. 2014;95:227–34.CrossRefPubMedCentralPubMed Aldinger KA, Mosca SJ, Tetreault M, et al. Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy. Am J Hum Genet. 2014;95:227–34.CrossRefPubMedCentralPubMed
40.
go back to reference Domogatskaya A, Rodin S, Tryggvason K. Functional diversity of laminins. Annu Rev Cell Dev Biol. 2012;28:523–53.CrossRefPubMed Domogatskaya A, Rodin S, Tryggvason K. Functional diversity of laminins. Annu Rev Cell Dev Biol. 2012;28:523–53.CrossRefPubMed
41.
go back to reference Poretti A, Boltshauser E. Cerebellar dysplasia. In: Boltshauser E, Schmahmann JD, editors. Cerebellar disorders in children. London: MacKeith Press; 2012. p. 172–6. Poretti A, Boltshauser E. Cerebellar dysplasia. In: Boltshauser E, Schmahmann JD, editors. Cerebellar disorders in children. London: MacKeith Press; 2012. p. 172–6.
42.
go back to reference Doherty D, Chudley AE, Coghlan G, et al. GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome. Am J Hum Genet. 2012;90:1088–93.CrossRefPubMedCentralPubMed Doherty D, Chudley AE, Coghlan G, et al. GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome. Am J Hum Genet. 2012;90:1088–93.CrossRefPubMedCentralPubMed
43.
go back to reference Kau T, Veraguth D, Schiegl H, Scheer I, Boltshauser E. Chudley-McCullough syndrome: case report and review of the neuroimaging spectrum. Neuropediatrics. 2012;43:44–7.CrossRefPubMed Kau T, Veraguth D, Schiegl H, Scheer I, Boltshauser E. Chudley-McCullough syndrome: case report and review of the neuroimaging spectrum. Neuropediatrics. 2012;43:44–7.CrossRefPubMed
44.
go back to reference Kivitie-Kallio S, Autti T, Salonen O, Norio R. MRI of the brain in the Cohen syndrome: a relatively large corpus callosum in patients with mental retardation and microcephaly. Neuropediatrics. 1998;29:298–301.CrossRefPubMed Kivitie-Kallio S, Autti T, Salonen O, Norio R. MRI of the brain in the Cohen syndrome: a relatively large corpus callosum in patients with mental retardation and microcephaly. Neuropediatrics. 1998;29:298–301.CrossRefPubMed
45.
go back to reference Poretti A, Leventer RJ, Cowan FM, et al. Cerebellar cleft: a form of prenatal cerebellar disruption. Neuropediatrics. 2008;39:106–12.CrossRefPubMed Poretti A, Leventer RJ, Cowan FM, et al. Cerebellar cleft: a form of prenatal cerebellar disruption. Neuropediatrics. 2008;39:106–12.CrossRefPubMed
46.
go back to reference Poretti A, Huisman TA, Cowan FM, et al. Cerebellar cleft: confirmation of the neuroimaging pattern. Neuropediatrics. 2009;40:228–33.CrossRefPubMed Poretti A, Huisman TA, Cowan FM, et al. Cerebellar cleft: confirmation of the neuroimaging pattern. Neuropediatrics. 2009;40:228–33.CrossRefPubMed
47.
go back to reference Poretti A, Prayer D, Boltshauser E. Morphological spectrum of prenatal cerebellar disruptions. Eur J Paediatr Neurol. 2009;13:397–407.CrossRefPubMed Poretti A, Prayer D, Boltshauser E. Morphological spectrum of prenatal cerebellar disruptions. Eur J Paediatr Neurol. 2009;13:397–407.CrossRefPubMed
48.
go back to reference Poretti A, Limperopoulos C, Roulet-Perez E, et al. Outcome of severe unilateral cerebellar hypoplasia. Dev Med Child Neurol. 2010;52:718–24.CrossRefPubMed Poretti A, Limperopoulos C, Roulet-Perez E, et al. Outcome of severe unilateral cerebellar hypoplasia. Dev Med Child Neurol. 2010;52:718–24.CrossRefPubMed
49.
go back to reference Demaerel P, Lagae L, Casaer P, Baert AL. MR of cerebellar cortical dysplasia. AJNR Am J Neuroradiol. 1998;19:984–6.PubMed Demaerel P, Lagae L, Casaer P, Baert AL. MR of cerebellar cortical dysplasia. AJNR Am J Neuroradiol. 1998;19:984–6.PubMed
50.
go back to reference Demaerel P, Wilms G, Marchal G. Rostral vermian cortical dysplasia: MRI. Neuroradiology. 1999;41:190–4.CrossRefPubMed Demaerel P, Wilms G, Marchal G. Rostral vermian cortical dysplasia: MRI. Neuroradiology. 1999;41:190–4.CrossRefPubMed
51.
go back to reference Demaerel P. Abnormalities of cerebellar foliation and fissuration: classification, neurogenetics and clinicoradiological correlations. Neuroradiology. 2002;44:639–46.CrossRefPubMed Demaerel P. Abnormalities of cerebellar foliation and fissuration: classification, neurogenetics and clinicoradiological correlations. Neuroradiology. 2002;44:639–46.CrossRefPubMed
52.
go back to reference Livingston JH, Mayer J, Jenkinson E, et al. Leukoencephalopathy with calcifications and cysts: a purely neurological disorder distinct from coats plus. Neuropediatrics. 2014;45:175–82.CrossRefPubMed Livingston JH, Mayer J, Jenkinson E, et al. Leukoencephalopathy with calcifications and cysts: a purely neurological disorder distinct from coats plus. Neuropediatrics. 2014;45:175–82.CrossRefPubMed
53.
go back to reference Tsutsumi Y, Oka A, Itoh Y, et al. Cerebellar cysts associated with multiple carboxylase deficiency: a case report. Ultrasound Obstet Gynecol. 2010;35:634. Tsutsumi Y, Oka A, Itoh Y, et al. Cerebellar cysts associated with multiple carboxylase deficiency: a case report. Ultrasound Obstet Gynecol. 2010;35:634.
Metadata
Title
Cerebellar Cysts in Children: a Pattern Recognition Approach
Authors
Eugen Boltshauser
Ianina Scheer
Thierry A. G. M. Huisman
Andrea Poretti
Publication date
01-06-2015
Publisher
Springer US
Published in
The Cerebellum / Issue 3/2015
Print ISSN: 1473-4222
Electronic ISSN: 1473-4230
DOI
https://doi.org/10.1007/s12311-014-0633-9

Other articles of this Issue 3/2015

The Cerebellum 3/2015 Go to the issue