Document Detail


MR findings in mannosidosis.
MedLine Citation:
PMID:  2287376     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
MR findings are reported in three patients presenting mannosidosis. Among a family of 8 children, 4 presented typical clinical and biological abnormalities related to mannosidosis. Brain MR examinations including sagittal T1 and axial T2 sections were obtained in three patients of this family (one 25-year-old male, one 34-year-old female, and one 35-year-old female). MR scans demonstrate seven types of modifications: (1) brachycephaly, (2) thick calvaria, (3) verticalization of the chiasmatic sulcus, (4) poor pneumatization of the sphenoid body, (5) partial empty sella turcica (6) cerebellar atrophy, and (7) white matter signal modifications. High signal abnormalities involving the parieto-occipital white matter are identified on axial T2-weighted scans in the three patients and are probably related to demyelination and associated gliosis as described previously by several authors on specimens.
Authors:
J L Dietemann; M M Filippi de la Palavesa; C Tranchant; B Kastler
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Neuroradiology     Volume:  32     ISSN:  0028-3940     ISO Abbreviation:  Neuroradiology     Publication Date:  1990  
Date Detail:
Created Date:  1991-03-26     Completed Date:  1991-03-26     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  1302751     Medline TA:  Neuroradiology     Country:  GERMANY    
Other Details:
Languages:  eng     Pagination:  485-7     Citation Subset:  IM    
Affiliation:
Service de Radiologie Médico-Chirurgicale B, Hôpital Central, Strasbourg, France.
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MeSH Terms
Descriptor/Qualifier:
Adult
Brain / pathology*
Female
Humans
Magnetic Resonance Imaging*
Male
Skull / pathology*
alpha-Mannosidosis / diagnosis*,  genetics,  pathology

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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