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Partial lipodystrophy presenting with myopathy
Author(s) -
Moore S J,
Auchterlonie I A,
Cole G F,
Gray E S,
Dean J C S
Publication year - 1999
Publication title -
developmental medicine and child neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.658
H-Index - 143
eISSN - 1469-8749
pISSN - 0012-1622
DOI - 10.1111/j.1469-8749.1999.tb00565.x
Subject(s) - lipodystrophy , medicine , hirsutism , myopathy , pediatrics , lipoatrophy , presentation (obstetrics) , proximal muscle weakness , girl , diabetes mellitus , endocrinology , surgery , insulin resistance , psychology , muscle biopsy , human immunodeficiency virus (hiv) , biopsy , antiretroviral therapy , polycystic ovary , developmental psychology , family medicine , viral load
A girl with partial lipodystrophy is described presenting with muscle weakness and developmental delay several years before lipoatrophy became apparent. The patient subsequently developed epilepsy, fatty liver, secondary amenorrhoea, hirsutism, insulin‐resistant diabetes mellitus, hyperlipidaemia, and hypothyroidism. She remains weak with poor exercise tolerance. This case illustrates an atypical presentation of the Barraquer–Simon syndrome.