Literature DB >> 17869142

Differential diagnosis of cerebellar atrophy in childhood.

Andrea Poretti1, Nicole I Wolf, Eugen Boltshauser.   

Abstract

Starting from the imaging appearance of cerebellar atrophy (CA) we provide checklists for various groups of CA: hereditary CA, postnatally acquired CA, and unilateral CA. We also include a list of disorders with ataxia as symptom, but no evidence of CA on imaging. These checklists may be helpful in the evaluation of differential diagnosis and planning of additional investigations. However, the complete constellation of clinical (including history and neurological examination), imaging, and other information have to be considered. On the basis of a single study distinction between prenatal onset atrophy, postnatal onset atrophy, and cerebellar hypoplasia is not always possible. Apart from rare exceptions, neuroimaging findings of CA are nonspecific. A pattern-recognition approach is suggested, considering isolated (pure) CA, CA and hypomyelination, CA and progressive white matter abnormalities, CA and basal ganglia involvement, and cerebellar cortex hyperintensity.

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Year:  2007        PMID: 17869142     DOI: 10.1016/j.ejpn.2007.07.010

Source DB:  PubMed          Journal:  Eur J Paediatr Neurol        ISSN: 1090-3798            Impact factor:   3.140


  29 in total

1.  The shrunken, bright cerebellum: a characteristic MRI finding in congenital disorders of glycosylation type 1a.

Authors:  P Feraco; M Mirabelli-Badenier; M Severino; M G Alpigiani; M Di Rocco; R Biancheri; A Rossi
Journal:  AJNR Am J Neuroradiol       Date:  2012-06-21       Impact factor: 3.825

2.  Cerebellar Hypoplasia and Dysmorphia in Neurofibromatosis Type 1.

Authors:  Sandra P Toelle; Andrea Poretti; Peter Weber; Tatjana Seute; Jacoline E C Bromberg; Ianina Scheer; Eugen Boltshauser
Journal:  Cerebellum       Date:  2015-12       Impact factor: 3.847

Review 3.  Inherited cerebellar ataxia in childhood: a pattern-recognition approach using brain MRI.

Authors:  L Vedolin; G Gonzalez; C F Souza; C Lourenço; A J Barkovich
Journal:  AJNR Am J Neuroradiol       Date:  2012-05-17       Impact factor: 3.825

4.  Can Latent Class Analysis Be Used to Improve the Diagnostic Process in Pediatric Patients with Chronic Ataxia?

Authors:  Samantha Klassen; Brenden Dufault; Michael S Salman
Journal:  Cerebellum       Date:  2017-04       Impact factor: 3.847

5.  Descriptive epidemiology of cerebellar hypoplasia in the National Birth Defects Prevention Study.

Authors:  Meredith M Howley; Kim M Keppler-Noreuil; Christopher M Cunniff; Marilyn L Browne
Journal:  Birth Defects Res       Date:  2018-09-19       Impact factor: 2.344

6.  Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood.

Authors:  Chihiro Ohba; Hitoshi Osaka; Mizue Iai; Sumimasa Yamashita; Yume Suzuki; Noriko Aida; Nobuyuki Shimozawa; Ayumi Takamura; Hiroshi Doi; Atsuko Tomita-Katsumoto; Kiyomi Nishiyama; Yoshinori Tsurusaki; Mitsuko Nakashima; Noriko Miyake; Yoshikatsu Eto; Fumiaki Tanaka; Naomichi Matsumoto; Hirotomo Saitsu
Journal:  Neurogenetics       Date:  2013-10-04       Impact factor: 2.660

7.  Past, present and future therapeutics for cerebellar ataxias.

Authors:  D Marmolino; M Manto
Journal:  Curr Neuropharmacol       Date:  2010-03       Impact factor: 7.363

Review 8.  Inborn errors of metabolism and motor disturbances in children.

Authors:  A García-Cazorla; N I Wolf; M Serrano; B Pérez-Dueñas; M Pineda; J Campistol; E Fernández-Alvarez; J Colomer; S DiMauro; G F Hoffmann
Journal:  J Inherit Metab Dis       Date:  2009-10       Impact factor: 4.982

9.  Milder progressive cerebellar atrophy caused by biallelic SEPSECS mutations.

Authors:  Kazuhiro Iwama; Masayuki Sasaki; Shinichi Hirabayashi; Chihiro Ohba; Emi Iwabuchi; Satoko Miyatake; Mitsuko Nakashima; Noriko Miyake; Shuichi Ito; Hirotomo Saitsu; Naomichi Matsumoto
Journal:  J Hum Genet       Date:  2016-02-18       Impact factor: 3.172

10.  Unilateral cerebellar hypoplasia.

Authors:  J D Vagh; Ajit Gadekar; Amit Agrawal; Kirti Deshmukh
Journal:  Indian J Radiol Imaging       Date:  2009 Apr-Jun
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