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Isolated rhomboencephalosynapsis - a rare cerebellar anomaly.
MedLine Citation:
PMID:  22802865     Owner:  NLM     Status:  PubMed-not-MEDLINE    
Abstract/OtherAbstract:
BACKGROUND: Rhomboencephalosynapsis (RES, RS) is a unique entity usually recognized in infancy based on neuroimaging. Cerebellar fusion and absence of cerebellar vermis is often associated with supratentorial findings. Since now there are about 50 cases described worldwide, with approximately 36 patients diagnosed by MRI. The authors present the first in Poland case of this uncommon malformation and review the literature.
CASE REPORT: The authors describe a 28-month-old-girl with microcephaly and proper psychomotor development. The family history was unrelevant. Based on MRI the congenital malformation of posterior fossa-rhombencephalosynapsis was confirmed
CONCLUSIONS: Presented patient is a typical example of MRI usefulness especially in patients with RES. RES symptoms are mild and that is why the diagnosis is usually made only in adulthood.
Authors:
Justyna Paprocka; Ewa Jamroz; Ewa Scieszka; Ewa Kluczewska
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Polish journal of radiology / Polish Medical Society of Radiology     Volume:  77     ISSN:  1899-0967     ISO Abbreviation:  Pol J Radiol     Publication Date:  2012 Jan 
Date Detail:
Created Date:  2012-07-17     Completed Date:  2012-08-23     Revised Date:  2013-05-30    
Medline Journal Info:
Nlm Unique ID:  101175532     Medline TA:  Pol J Radiol     Country:  Poland    
Other Details:
Languages:  eng     Pagination:  47-9     Citation Subset:  -    
Affiliation:
Child Neurology Department, Medical University of Silesia, Katowice, Poland.
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