Document Detail

Nasu-Hakola disease. A case accompanied by abnormalities in fatty acid composition of serum total lipids and amino acid analysis.
MedLine Citation:
PMID:  8456596     Owner:  NLM     Status:  MEDLINE    
A case of Nasu-Hakola disease (membranous lipodystrophy) was reported. The patient is a 33-year-old man who started to have pathological fractures at the age of 24 years. Then, neurological symptoms such as dementia appeared gradually. A biopsy specimen of the bone showed membranocystic changes of the adipose tissue. T2-weighted magnetic resonance images of the head showed low intensity in bilateral putamens, internal capsules, globi pallidi and caudate nuclei. One of his brothers has the same disease. In both patients, fatty acid composition of serum total lipids showed increased nervonic acid and plasma amino acid analysis showed decreased glutamine.
M Oishi; N Mori; T Takasu; S Osaka; M Yamamoto; T Uchiyama; S Sawada
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Acta neurologica     Volume:  15     ISSN:  0001-6276     ISO Abbreviation:  Acta Neurol (Napoli)     Publication Date:  1993 Feb 
Date Detail:
Created Date:  1993-04-21     Completed Date:  1993-04-21     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0421100     Medline TA:  Acta Neurol (Napoli)     Country:  ITALY    
Other Details:
Languages:  eng     Pagination:  53-61     Citation Subset:  IM    
Department of Neurology, Nihon University School of Medicine, Japan.
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MeSH Terms
Amino Acids / analysis,  blood
Brain / pathology,  radiography
Dementia / complications,  diagnosis*,  genetics
Fatty Acids / analysis
Glutamine / analysis,  blood
Lipids / analysis,  blood
Lipodystrophy / complications,  diagnosis*,  genetics
Tomography, X-Ray Computed
Reg. No./Substance:
0/Amino Acids; 0/Fatty Acids; 0/Lipids; 56-85-9/Glutamine

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