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Partial lipodystrophy presenting with myopathy

Published online by Cambridge University Press:  01 February 1999

S J Moore ,
I A Auchterlonie ,
G F Cole ,
E S Gray  and
J C S Dean
S J Moore
Affiliation:
Department of Medical Genetics, Aberdeen Royal Hospitals Trust, Aberdeen, UK.
I A Auchterlonie
Affiliation:
Department of Paediatrics, Aberdeen Royal Hospitals Trust, Aberdeen, UK.
G F Cole
Affiliation:
Department of Paediatrics, Aberdeen Royal Hospitals Trust, Aberdeen, UK.
E S Gray
Affiliation:
Department of Pathology, Aberdeen Royal Hospitals Trust, Aberdeen, UK.
J C S Dean
Affiliation:
Department of Medical Genetics, Aberdeen Royal Hospitals Trust, Aberdeen, UK.
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Abstract

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.

Type
Case Reports
Information
Developmental Medicine and Child Neurology , Volume 41 , Issue 2 , February 1999 , pp. 127 - 131
Copyright
© 1999 Mac Keith Press

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