Abdominal localization of Tangier disease mimicking a pancreatic neoplasm.

Tangier disease is a rare genetic disorder of lipid metabolism, characterized by severe deficiency of plasma high-density lipoprotein cholesterol, low-plasma total cholesterol, and accumulation of cholesteryl ester in macrophages. Abdominal manifestation of Tangier disease is extremely rare, being reported only once in the English literature. We describe a 55-year-old patient with this condition, who underwent splenectomy 37 years before, because of splenomegaly with thrombocytopenia, and subsequently presented with abdominal pain and pancreatic mass, simulating a pancreatic tumor.

Differential diagnosis between Pendred and pseudo-Pendred syndromes: clinical, radiologic, and molecular studies.

The disease gene for Pendred syndrome has been recently characterized and named PDS. It codes for a transmembrane protein called pendrin, which is highly expressed at the apical surface of the thyroid cell and functions as a transporter of chloride and iodide. Pendrin is also expressed at the inner ear level, where it appears to be involved in the maintenance of the endolymph homeostasis in the membranous labyrinth, and in the kidney, where it mediates chloride-formate exchange and bicarbonate secretion.

Neuroendocrine tumor imaging: can 18F-fluorodeoxyglucose positron emission tomography detect tumors with poor prognosis and aggressive behavior?

We evaluated the clinical value of positron emission tomography (PET) using 18F-fluorodeoxyglucose (FDG) for neuroendocrine tumor (NET) detection. Sixteen patients with cytologically or histologically proved NETs were investigated. Patients were divided in two groups of eight patients each according to the clinicopathologic features related to prognosis: slow-growing NETs and aggressive NETs.

Unusual association between a thyrotropin-secreting pituitary adenoma and a papillary thyroid carcinoma.

We report here an unusual case of association between thyrotropin (TSH)-secreting pituitary adenoma and papillary thyroid carcinoma in a young female patient. Serum TSH levels did not significantly change after both stimulatory (thyrotropin-releasing hormone [TRH], domperidone) and inhibitory (bromocriptine levotriiodothyronine, [LT3], levothyroxine [LT4], LT4 plus LT3) tests, while a 67% decrease of serum TSH levels was obtained after acute administration of a somatostatin analog (SMS 201-995, 100 microg s.c.

Potential role of fluorine-18-deoxyglucose (FDG) positron emission tomography (PET) in the staging of primitive and recurrent medullary thyroid carcinoma.

We investigated 5 MTC patients, 3 preoperatively for staging purpose, and 2 after surgery, during the follow-up, because of the persistence of elevated serum tumoral markers. FDG PET results were compared with conventional radiologic (US, CT scan, MRI) and scintigraphic non-invasive techniques (99mTc-MIBI and 99mTc-MDP scans). In all the 3 patients preoperatively studied, PET, as well as the other imaging modalities, detected the primitive tumor and the loco-regional lymphnode metastases.