Partial lipodystrophy presenting with myopathy

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.