Search

A 21-year-old female presented to the hospital with acute onset left pelvic pain that began while urinating. Ultrasound of the pelvis revealed a 1.7 cm structure within the bladder wall. Follow-up imaging with magnetic resonance imaging confirmed a 1.9 cm mass in the urinary bladder wall. Cystoscopy with transurethral resection was performed. Histopathology of the obtained tissue confirmed the diagnosis of paraganglioma. Laboratory evaluation revealed evidence of catecholamine excess with elevated urine norepinephrine, urine normetanephrine, and plasma free normetanephrine. Functional imaging with Ga-DOTATATE positron emission tomography-computed tomography (PET-CT) revealed increased uptake in the region of the known mass without findings of metastasis. Genetic testing revealed succinate dehydrogenase A mutation, consistent with paraganglioma syndrome 5. The patient was treated with alpha-adrenergic blockade prior to partial cystectomy. Urinary bladder paraganglioma is a rare entity. The diagnosis requires a high index of clinical suspicion due to variable presentation. Hypertension and other signs of catecholamine excess, especially in relation to micturition, are important clues. Despite evidence of catecholamine excess in most patients with bladder paraganglioma, the majority are diagnosed after biopsy, indicating a need for improved diagnostic strategies in this patient population. Early diagnosis and treatment are essential to prevent potentially lethal cardiac complications and tumor metastasis.

Pituitary apoplexy (PA) is an endocrine emergency presenting with headache, visual and hormonal disturbances. Syndrome of inappropriate antidiuretic hormone secretion (SIADH) is rare after PA. A 64-year-old woman presented with acute frontal headache and nausea with normal neurological examination. Labs included normal sodium and creatinine. Echo showed new-onset congestive heart failure (CHF) and MRI of the brain revealed PA. She had normal cortisol levels and low thyroid stimulating hormone with normal thyroxine (T4) levels. During her hospitalisation, patient developed hyponatraemia. Initially, this was attributed to CHF and she was treated with tolvaptan with normalisation of sodium. One week later, she was readmitted with diarrhoea and hyponatraemia. She was euvolaemic on examination indicating compensated CHF. Despite fluid challenge, patient had no improvement of sodium levels. The diagnosis of SIADH was made. Clinicians should suspect SIADH in patients with hyponatraemia in the setting of PA with normal T4 and cortisol levels.

Rationale: Familial hypocalciuric hypercalcemia (FHH) is a benign cause of hypercalcemia. The majority of cases result from an inactivating mutation in the calcium-sensing receptor (CaSR). While affected patients are usually asymptomatic and require no treatment, this condition may go unrecognized and inappropriate parathyroidectomy for presumed primary hyperparathyroidism could be performed. Over 130 mutations in the CaSR gene have been reported and novel variants continue to emerge. Methods: The initial patient was a 49 year-old female who presented with mild hypercalcemia, elevated PTH and undetectable urine calcium. She reported several of her family members had elevated calcium levels. Given high clinical suspicion for FHH genetic analysis was performed. Results: Sequencing of the CaSR gene revealed a point mutation at c.1744T>A which resulted in p.Cys582Ser in exon 7. This cystine residue is highly conserved and predictive algorithms suggest this variant is likely disruptive leading to heterozygous loss of function in the CaSR. The patient’s 26 year-old daughter was tested and found to have the same mutation. Conclusion: We report the identification of a novel heterozygous mutation in the CaSR gene manifesting as FHH in a family of Iraqi decent. Additional family members are currently undergoing genetic analysis which will be included at the time of presentation.

Background: There are few guidelines for the management of patients with both significant cardiac valvular disease and pheochromocytoma. Resection of pheochromocytoma is challenging for surgeons and anesthesiologists due to the potential for sudden releases of catecholamines causing significant hemodynamic effects. The cornerstone of perioperative management of pheochromocytoma involves alpha blockade to prevent the potential for hypertensive crisis from unopposed alpha-adrenergic vasoconstriction. Achieving adequate adrenergic blockade is challenging in patients with aortic stenosis due to the risks of decreased afterload precipitating myocardial ischemia and bradycardia leading to diminished cardiac output [1]. It is difficult to determine whether to proceed first with transcatheter aortic valve replacement or pheochromocytoma resection in patients with both conditions. Clinical Case: An 83-year-old woman with a past medical history of type 2 diabetes, essential hypertension, coronary artery disease, and severe aortic stenosis was found to have a left adrenal mass (10.7 cm) on coronary CTA during pre-operative evaluation for transcatheter aortic valve replacement. She had significantly elevated total urine metanephrines of 16,237 ug/24 hr (n 140–785 ug/24 hr); other hormonal workup was unremarkable. A multi-disciplinary team of interventional cardiology, anesthesiology, and endocrinology specialists determined the safest management plan involved proceeding with transcatheter aortic valve replacement, after adequate alpha and beta blockade and prior to pheochromocytoma resection, to avoid potential for severe heart failure. Due to the potential for unpredictable catecholamine release intra and peri-operatively, the patient was at high risk for hypertensive crisis and mortality. Her home medications of metoprolol 50 mg twice daily, spironolactone 25 mg daily, and verapamil 120 mg daily were continued. She was started on treatment with phenoxybenzamine 10 mg in morning and 10 mg in evening. The phenoxybenzamine dose was titrated to 10 mg in the morning and 20 mg in the evening to achieve a consistent systolic blood pressure of less than 130 mm Hg. She successfully underwent transcatheter aortic valve replacement and remained hemodynamically stable. She was discharged with plan for surgical resection of pheochromocytoma six weeks after her transcatheter aortic valve replacement. Conclusions: This case describes a successful management strategy for achieving alpha blockade in an elderly patient with pheochromocytoma and severe aortic stenosis. Reference: [1] Saran JS, Moalem J, Schoeniger L, Tzimas K. Perioperative Management of Pheochromocytoma Resection in a Patient With Severe Aortic Stenosis. J Cardiothorac Vasc Anesth. 2018 Dec;32(6):2712–2715.