Partial lipodystrophy presenting with myopathy

Citation
Sj. Moore et al., Partial lipodystrophy presenting with myopathy, DEVELOP MED, 41(2), 1999, pp. 127-131
Citations number
27
Categorie Soggetti
Pediatrics,"Neurosciences & Behavoir
Journal title
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
ISSN journal
00121622 → ACNP
Volume
41
Issue
2
Year of publication
1999
Pages
127 - 131
Database
ISI
SICI code
0012-1622(199902)41:2<127:PLPWM>2.0.ZU;2-4
Abstract
A girl with partial lipodystrophy is described presenting with muscle weakn ess and developmental delay several years before lipoatrophy became apparen t. The patient subsequently developed epilepsy, fatty liver, secondary amen orrhoea, hirsutism, insulin-resistant diabetes mellitus, hyperlipidaemia, a nd hypothyroidism. She remains weak with poor exercise tolerance, This case illustrates an atypical presentation of the Barraquer-Simon syndrome.