Document Detail

Familial partial lipodystrophy due to the LMNA R482W mutation with multinodular goitre, extrapyramidal syndrome and primary hyperaldosteronism.
MedLine Citation:
PMID:  17524034     Owner:  NLM     Status:  MEDLINE    
Objective To describe new data about the wide phenotypic variability of diseases due to mutations in the lamin A/C gene (LMNA). Design We report a complex phenotype in a patient with familial partial lipodystrophy of the Dunnigan type (FPLD) and study the frequency of her unusual clinical signs in 19 other LMNA-mutated lipodystrophic patients from 8 different families and 14 non-mutated family members. Case Report The patient was diagnosed with FPLD due to the R482W LMNA mutation after familial screening. Surprisingly, she had no biological signs of insulin resistance. The presence of hypertension with hypokalaemia led to the diagnosis of primary hyperaldosteronism. Thyroid investigations showed a euthyroid multinodular goiter. In addition, the patient exhibited a juvenile akineto-hypertonic syndrome. Results Goiter was identified with a similar frequency (55%) in LMNA-mutated lipodystrophic patients (11 out of 20, originating from 5 families among 8) compared to non-mutated family controls (35%; 5 patients out of 14, all originating from the same family). No case of primary hyperaldosteronism or extrapyramidal syndrome was identified in other studied subjects, either LMNA-mutated or not. Conclusions This R482W-LMNA mutated patient showed an association of features (primary hyperaldosteronism, euthyroid goiter and extra-pyramidal syndrome, raising the question of a link with her laminopathy. Prevalence of goiter tended to be higher in LMNA-mutated than in non-mutated subjects. Hyperaldosteronism seems coincidental. Although extrapyramidal syndrome has never been reported in lipodystrophic patients, it may nevertheless be linked to the LMNA mutation since multiple neurological features have been associated with alterations in lamins A/C.
M C Vantyghem; F Faivre-Defrance; S Marcelli-Tourvieille; C Fermon; A Evrard; M F Bourdelle-Hego; C Vigouroux; L Defebvre; B Delemer; J L Wemeau
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2007-05-24
Journal Detail:
Title:  Clinical endocrinology     Volume:  67     ISSN:  0300-0664     ISO Abbreviation:  Clin. Endocrinol. (Oxf)     Publication Date:  2007 Aug 
Date Detail:
Created Date:  2007-07-30     Completed Date:  2008-01-10     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0346653     Medline TA:  Clin Endocrinol (Oxf)     Country:  England    
Other Details:
Languages:  eng     Pagination:  247-9     Citation Subset:  IM    
Endocrinology and Metabolism, Lille University Hospital, 6 Rue du Pr Laguesse, F-59037 Lille, France.
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MeSH Terms
Basal Ganglia Diseases / complications,  genetics*
Case-Control Studies
Goiter, Nodular / complications,  genetics*
Hyperaldosteronism / complications,  genetics*
Lamin Type A / genetics*
Lipodystrophy, Familial Partial / complications,  genetics*
Middle Aged
Subthalamic Nucleus
Reg. No./Substance:
0/Lamin Type A

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