A woman with familial partial lipodystrophy and the complications of her four pregnancies

Abstract

We discuss a case of a woman ultimately diagnosed with familial partial lipodystrophy following her fourth pregnancy. In her previous pregnancies she had numerous complications thought to be related to diabetes including recurrent macrosomia and polyhydramnios. In her second pregnancy she underwent emergency caesarean section for fetal tachycardia at 34 weeks’ gestation. Her baby was diagnosed with unexplained cerebral ischaemic injury and limb ischaemia requiring amputation. Postnatally she was diagnosed with type 2 diabetes mellitus with subsequent poor control. Very high insulin demands in this fourth pregnancy and an unusual phenotypic appearance in the patient and her mother raised suspicion of an underlying condition. Genetic studies confirmed the clinical diagnosis of familial partial lipodystrophy.