Four generations of SDHB-related disease: complexities in management.

SDHB mutations are linked to the familial paraganglioma syndrome type 4 (PGL4), which is associated with predominantly extra-adrenal disease and has high metastatic rates. Despite the lower penetrance rates in carriers of SDHB mutations compared to mutations in other paraganglioma susceptibility genes, the aggressive behavior of SDHB-linked disease warrants intensive surveillance to identify and resect tumors early. Patients with similar SDHB genotypes in whom the PGL syndrome manifests often exhibit very heterogeneous phenotypes. Tumors can arise in various locations, and management can be considerably different, depending on tumor site and pathology. We present a case series of five SDHB mutation carriers over four generations from the same family to illustrate the complexities in management.

Retroperitoneal Functioning Paraganglioma--A Rare Case of Secondary Diabetes.

INTRODUCTION: Paragangliomas are rare neuroendocrine tumors that arise from the extra-adrenal autonomic paraganglia, which can derive from either parasympathetic or sympathetic paraganglia and are closely related to pheochromocytomas. CASE REPORT: We present the case of a young male patient of 37 years old, who was admitted for hypertensive crisis and palpitations. His medical history included medically controlled type 2 diabetes mellitus, (diagnosed 10 months ago), Hepatitis A. Hormonal evaluation revealed elevated urinary metanephrines and normetanephrines, with mainly increased normetanephrines (2330 ug/24 h). Plasmatic metanephrins were in normal range, but levels of plasmatic normetanephrins were elevated (952 pg/ml). The assessment of pituitary and aldosterone-renin axis values were within normal limits. Abdominal computed tomography showed left adrenal nodular lesion on the external arm, bilobulated, size 32/33 mm with maximum axial and cranio-caudal diameter of approx. 45 cm, suggestive of a benign lesion, keeping the cleavage plane to vecinatate structures. Left adrenalectomy was performed by laparoscopic approach. We mention that immediately after induction of anesthesia were recorded blood pressures of 298/143 mmHg. Histopathologic and immunohistochemical examination diagnose paraganglioma, without invasion of adjacent tissues. The patient evolution was favorable, with the remission of the symptoms and normalization of hormonal markers. It is imperative to note the remission of diabetes in the postoperative period. DISCUSSION: This is the case of a young patient with functional retroperitoneal paraganglioma, who presented with symptoms of pheochromocytoma. Compared to pheochromocytomas, paragangliomas are rarely symptomatic and functional. Association with diabetes is even more rare. Specialized investigations allowed the proper diagnosis and the therapeutic approach above was the result of a multidisciplinary cooperation.

High pre-operative urinary norepinephrine is an independent determinant of peri-operative hemodynamic instability in unilateral pheochromocytoma/paraganglioma removal.

BACKGROUND: Peri-operative hemodynamic instability (HDI) may increase peri-operative morbidity in pheochromocytoma/paraganglioma (PPGL) patients. OBJECTIVE: This study aimed to determine which tumor-related risk factors could lead to peri-operative HDI in unilateral or single PPGL removal. METHODS: Before surgery, 66 PPGL patients had at least two sets of 24 h urine collected for fractionated catecholamine analysis. At surgery, an arterial line was inserted to record systolic blood pressure (SBP), diastolic BP, and mean arterial BP (MAP). Peri-operative HDI was defined as hypertension (SBP > 160 mmHg) and/or hypotension (SBP < 90 mmHg and/or MAP < 60 mmHg) for >10 consecutive minutes either intra-operatively or within the first 12 h after surgery. Urinary fractionated catecholamines and other variables were compared between those with peri-operative HDI (group I) and those without (group II). RESULTS: A total of 15 (22.7 %) patients belonged to group I, while 51 patients belonged to group II. One (1.5 %) patient died 9 days after surgery. Relative to group II, group I had significantly higher urinary norepinephrine (NE) (5,488.0 vs. 1,980.0 nmol/L, p < 0.001), urinary normetanephrine (5,130.9 vs. 3,853.4 nmol/L, p = 0.045), maximum SBP at operation (188.2 vs. 167.4 mmHg, p = 0.037), but lower MAP after operation (78.9 vs. 91.8 mmHg, p = 0.026). Urinary NE (OD 1.02, 95 % confidence interval [CI] 1.01-1.03, p = 0.046) was an independent risk factor for peri-operative HDI. The urinary NE level significantly correlated with maximum intra-operative SBP and MAP (r 0.692, p < 0.001; and r 0.669, p < 0.001, respectively) and inversely correlated with maximum post-operative MAP (r -0.305, p = 0.040). CONCLUSIONS: High pre-operative urinary NE was an independent tumor-related factor for peri-operative HDI and significantly correlated with sustained intra-operative hypertension and post-operative hypotension.

Cardiovascular magnetic resonance and PET-CT of left atrial paraganglioma.

Cardiac paragangliomas are among the rarest primary cardiac tumors. We present a case of left atrial paraganglioma in a patient who presented with symptoms and signs of catecholamine excess in which cardiovascular magnetic resonance in multiple orientations and PET-CT played an important role in the diagnosis and tissue characterization.

Iodine-123-metaiodobenzylguanidine scintigraphy in patients with chemodectomas of the head and neck region.

While studying the uptake of iodine-123-metaiodobenzylguanidine ([123I]MIBG) in chemodectomas, we coincidentally detected catecholamine secreting tumors in 5 out of 14 patients. In three of these cases, a norepinephrine secreting abdominal paraganglioma was subsequently removed. One patient had a norepinephrine secreting chemodectoma and one had a dopamine secreting chemodectoma. Prior to [123I]MIBG imaging and urinary catecholamine measurements, endocrine activity was suspected in only one of these five patients. Apart from these five cases, two other patients showed elevated catecholamine secretion and abnormal abdominal [123I]MIBG concentrations. However, these two patients were not surgically explored, because of normal computed tomography (CT) and magnetic resonance (MRI) studies. We suspect that catecholamine-secreting tumors are more common in patients with chemodectomas than is assumed in the literature, and we therefore recommend urinary catecholamine screening for all patients with chemodectomas. In case of elevated catecholamine secretion, MIBG scintigraphy is indicated.