Source:http://linkedlifedata.com/resource/pubmed/id/12075486
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
2
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pubmed:dateCreated |
2002-6-20
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pubmed:abstractText |
We describe painful subcutaneous lipomatosis in four members of a two-generation family. Lipomas appeared in adulthood, were circumscribed, painful on touch and mainly localized to the trunk and proximal parts of the extremities. The disorder was associated with dysarthria, visual pursuit defect and progressive dystonia. MRI showed bilateral increasing cystic lesions in the basal parts of the putamen. No other abnormalities were detected. The lesions corresponded well with the clinical presentation in the patients. Investigation for mitochondrial disease with muscle biopsy and mitochondrial DNA gave normal results. No consistent biochemical changes were found. The disorder in this family was considered to differ from MERRF with lipomatous lesions and multiple symmetric lipomatosis but compatible with a Dercum disease variant.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Apr
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pubmed:issn |
0174-304X
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
33
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
69-72
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pubmed:dateRevised |
2008-1-16
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pubmed:meshHeading |
pubmed-meshheading:12075486-Adiposis Dolorosa,
pubmed-meshheading:12075486-Adolescent,
pubmed-meshheading:12075486-Adult,
pubmed-meshheading:12075486-Brain,
pubmed-meshheading:12075486-Child,
pubmed-meshheading:12075486-DNA, Mitochondrial,
pubmed-meshheading:12075486-Disease Progression,
pubmed-meshheading:12075486-Dysarthria,
pubmed-meshheading:12075486-Humans,
pubmed-meshheading:12075486-Magnetic Resonance Imaging,
pubmed-meshheading:12075486-Male,
pubmed-meshheading:12075486-Middle Aged,
pubmed-meshheading:12075486-Necrosis,
pubmed-meshheading:12075486-Pain,
pubmed-meshheading:12075486-Pain Measurement,
pubmed-meshheading:12075486-Parkinsonian Disorders,
pubmed-meshheading:12075486-Putamen
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pubmed:year |
2002
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pubmed:articleTitle |
Dysarthria, progressive parkinsonian features and symmetric necrosis of putamen in a family with painful lipomas (Dercum disease variant).
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pubmed:affiliation |
Section of Neuropediatrics, The Queen Silvia Children's Hospital, Göteborg, Sweden. marten.kyllerman@vgregion.se
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pubmed:publicationType |
Journal Article,
Case Reports
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