ABSTRACT
INTRODUCTION: Klippel-Trenaunay Syndrome (KTS) is a rare genetic disorder which is characterised by vascular nevi, venous varicosity, and hyperplasia of soft tissue or bone. Renovascular involvement is considered uncommon in KTS. PRESENTATION OF CASE: A 79-year-old man presented with a left sided varicocele, lymphedema, hydrocele, and microscopic haematuria. After a series of investigations his imaging and clinical features were suggestive KTS. His images, which showed a 2.7 cm renal artery aneurysm, were discussed in the multi-disciplinary team (MDT) meeting and the decision was made to proceed with a laparoscopic nephrectomy. DISCUSSION: Given the size of the aneurysm, treatment was offered and accepted by the patient. This is first recorded case in the literature in which a successful laparoscopic nephrectomy has been carried out for preventing severe haemorrhage in KTS. The patient presented in his 7th decade with a varicocele which would be considered unusual for KTS. Like in many cases, the renal artery aneurysm was asymptomatic. Pathological outcomes of the sample confirmed features suggestive of KTS, thus, validating the radiological findings. CONCLUSION: Here, we report a favourable outcome of a patient referred for consideration of varicocele management, diagnosed with renal artery aneurysms on a background of KTS. KTS, with significant renovascular abnormalities, can be treated with laparoscopic nephrectomy. Careful discussion in MDT with regards to management options should be performed and a shared decision reached with the patient with regards to management. Though rare, patients presenting with varicoceles and lymphedema may have underlying capillary-lymphatic-venous malformations.
ABSTRACT
We report a case of a young woman with Cushing's syndrome (CS), in whom although endocrine investigations and negative pituitary imaging were suggestive of ectopic ACTH secretion, the results of inferior petrosal sinus (IPS) sampling after coricotropin-releasing hormone (CRH) stimulation were suggestive of pituitary ACTH hypersecretion. (111)In-labelled octreotide and high-resolution computer tomography (CT) revealed a lesion possibly responsible for the ACTH source in the thymus. Thymectomy confirmed concomitant ectopic CRH and probable ACTH production by a thymic neuroendocrine carcinoma. After an 8-year remission period the patient developed a clinical and biochemical relapse. A high-resolution computed tomography (CT) scan of the thorax showed a 2-cm nodule in the thymic bed, which was positive on a [(18)F]fluoro-2-deoxy-D-glucose ([(18)F]FDG) positron emission tomography (PET) scan. However, a repeated thymectomy did not result in remission. A repeat [(18)F]FDG PET study showed persistent disease in the thymic bed and also uptake in the adrenals. The patient underwent bilateral adrenalectomy, which resulted in clinical remission. A further [(18)F]FDG PET scan 8 months later showed no progression of the thymic tumor and confirmed complete excision of the adrenals. This is a rare case of concomitant CRH and ACTH secretion from a thymic carcinoid tumor; the case illustrates the usefulness of functional imaging with [(18)F]FDG PET in the diagnosis, management and follow-up of neuroendocrine tumors.
