Literature DB >> 25504001

Cerebellar cysts in children: a pattern recognition approach.

Eugen Boltshauser1, Ianina Scheer, Thierry A G M Huisman, Andrea Poretti.   

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.

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Mesh:

Year:  2015        PMID: 25504001     DOI: 10.1007/s12311-014-0633-9

Source DB:  PubMed          Journal:  Cerebellum        ISSN: 1473-4222            Impact factor:   3.847


  48 in total

1.  Joubert syndrome and related disorders: spectrum of neuroimaging findings in 75 patients.

Authors:  A Poretti; T A G M Huisman; I Scheer; E Boltshauser
Journal:  AJNR Am J Neuroradiol       Date:  2011-06-16       Impact factor: 3.825

2.  Walker-Warburg syndrome: demonstration of cerebellar cysts with CISS sequence.

Authors:  Santosh Bharat Rathod; Akshay Dwarka Baheti; Poonam Tanaji Dabhade; Shilpa Susheel Sankhe
Journal:  Magn Reson Med Sci       Date:  2012       Impact factor: 2.471

Review 3.  Pontocerebellar hypoplasia.

Authors:  Sabine Rudnik-Schöneborn; Peter G Barth; Klaus Zerres
Journal:  Am J Med Genet C Semin Med Genet       Date:  2014-06-12       Impact factor: 3.908

4.  Homozygous dystroglycan mutation associated with a novel muscle-eye-brain disease-like phenotype with multicystic leucodystrophy.

Authors:  Tobias Geis; Klaus Marquard; Tanja Rödl; Christof Reihle; Sophie Schirmer; Thekla von Kalle; Antje Bornemann; Ute Hehr; Markus Blankenburg
Journal:  Neurogenetics       Date:  2013-09-20       Impact factor: 2.660

5.  Rostral vermian cortical dysplasia: MRI.

Authors:  P Demaerel; G Wilms; G Marchal
Journal:  Neuroradiology       Date:  1999-03       Impact factor: 2.804

6.  Mucopolysaccharidoses type I and II: new neuroimaging findings in the cerebellum.

Authors:  Eman Alqahtani; Thierry A G M Huisman; Eugen Boltshauser; Ianina Scheer; Tayfun Güngör; Aylin Tekes; Gustavo H Maegawa; Andrea Poretti
Journal:  Eur J Paediatr Neurol       Date:  2013-12-31       Impact factor: 3.140

7.  MR of cerebellar cortical dysplasia.

Authors:  P Demaerel; L Lagae; P Casaer; A L Baert
Journal:  AJNR Am J Neuroradiol       Date:  1998-05       Impact factor: 3.825

Review 8.  Abnormalities of cerebellar foliation and fissuration: classification, neurogenetics and clinicoradiological correlations.

Authors:  P Demaerel
Journal:  Neuroradiology       Date:  2002-06-26       Impact factor: 2.804

9.  Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients.

Authors:  Denise Cassandrini; Maria Roberta Cilio; Marzia Bianchi; Mara Doimo; Martina Balestri; Alessandra Tessa; Teresa Rizza; Geppo Sartori; Maria Chiara Meschini; Claudia Nesti; Giulia Tozzi; Vittoria Petruzzella; Fiorella Piemonte; Luigi Bisceglia; Claudio Bruno; Carlo Dionisi-Vici; Adele D'Amico; Fabiana Fattori; Rosalba Carrozzo; Leonardo Salviati; Filippo M Santorelli; Enrico Bertini
Journal:  J Inherit Metab Dis       Date:  2012-05-08       Impact factor: 4.982

10.  Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.

Authors:  Yasmin Namavar; Peter G Barth; Paul R Kasher; Fred van Ruissen; Knut Brockmann; Günther Bernert; Karin Writzl; Karen Ventura; Edith Y Cheng; Donna M Ferriero; Lina Basel-Vanagaite; Veerle R C Eggens; Ingeborg Krägeloh-Mann; Linda De Meirleir; Mary King; John M Graham; Arpad von Moers; Nine Knoers; Laszlo Sztriha; Rudolf Korinthenberg; William B Dobyns; Frank Baas; Bwee Tien Poll-The
Journal:  Brain       Date:  2010-10-15       Impact factor: 15.255

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  5 in total

1.  Magnetic resonance imaging of cerebellar cysts in a neonate with congenital cytomegalovirus infection.

Authors:  Miguel Quintas-Neves; João Paulo Soares-Fernandes
Journal:  Pediatr Radiol       Date:  2019-01-05

2.  Understanding What You Have Found: A Family With a Mutation in the LAMA1 Gene With Literature Review.

Authors:  Muhsin Elmas; Basak Gogus; Mustafa Solak
Journal:  Clin Med Insights Case Rep       Date:  2020-08-18

3.  Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome).

Authors:  Alessia Micalizzi; Andrea Poretti; Marta Romani; Monia Ginevrino; Tommaso Mazza; Chiara Aiello; Ginevra Zanni; Bastian Baumgartner; Renato Borgatti; Knut Brockmann; Ana Camacho; Gaetano Cantalupo; Martin Haeusler; Christiane Hikel; Andrea Klein; Giorgia Mandrile; Eugenio Mercuri; Dietz Rating; Romina Romaniello; Filippo Maria Santorelli; Mareike Schimmel; Luigina Spaccini; Serap Teber; Arpad von Moers; Sarah Wente; Andreas Ziegler; Andrea Zonta; Enrico Bertini; Eugen Boltshauser; Enza Maria Valente
Journal:  Eur J Hum Genet       Date:  2016-03-02       Impact factor: 4.246

4.  Terminology in morphological anomalies of the cerebellum does matter.

Authors:  Andrea Poretti; Eugen Boltshauser
Journal:  Cerebellum Ataxias       Date:  2015-07-07

Review 5.  Clinical and neuroimaging features as diagnostic guides in neonatal neurology diseases with cerebellar involvement.

Authors:  Jessica L Klein; Monica E Lemmon; Frances J Northington; Eugen Boltshauser; Thierry A G M Huisman; Andrea Poretti
Journal:  Cerebellum Ataxias       Date:  2016-01-13
  5 in total

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