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

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.

Multimodality palliative treatment of (111)In-pentetreotide negative/(123)I-MIBG positive metastatic carcinoid - a case report.

Patients with carcinoid tumours frequently present with metastatic disease. There are only a few therapeutic options for these patients, and the main goal of palliative treatment is to reduce symptoms and thus to improve quality of life. Current therapy includes surgical resection, hepatic artery embolisation, chemotherapy and somatostatin analogue treatment; however, all these options have limitations. It seems probable that therapeutic modalities based on radiopharmaceuticals may provide better therapy, not only in relation to symptom reduction but may also improve patient survival. In this case report we present a 46-year-old woman with a symptomatic carcinoid, who at the time of diagnosis had liver and abdominal lymph node metastases, the primary tumour being located in the terminal ileum. (111)In-pentetreotide scanning was negative, whereas (123)I-MIBG scanning showed high avidity in the tumour tissue. After right hemicolectomy, two courses of (131)I-MIBG treatment were given (12.95 GBq and 12 GBq, respectively). After the second dose of (131)I-MIBG temporary pancytopenia was present. Octreotide therapy was given empirically only for a short time and was stopped because of drug intolerance. The patient underwent tricuspid and pulmonary valve replacement because of her carcinoid heart disease, followed by two courses of embolisation of liver metastases. While (131)I-MIBG therapy reduced the patient's symptoms of flushing and diarrhoea, there has not yet been any effect on tumour response or 5-HIAA production. This case illustrates the multimodality and multidisciplinary approach to such patients.