Familial pheochromocytoma.

OBJECTIVES: To identify disease characteristics, operative outcome, and prognosis in patients with familial pheochromocytoma. METHODS: Records of 29 patients with familial pheochromocytoma were retrospectively analyzed. Patients' age, gender, presenting symptoms and clinical signs, chemical and radiologic findings, and associated conditions were recorded. RESULTS: Of the 29 patients, 25 were adults and 4 were children. Age ranged from 18 to 52 years (mean age 30.8 years). Twenty patients were females. Of the 29 patients, 26 had adrenal tumors, 2 had extra-adrenal tumors, and 1 had a combined adrenal and extra-adrenal tumor. The patients included 17 with multiple endocrine neoplasia (MEN), 8 with von Hippel Lindeau disease (vHLD), and 4 with Von Recklinghausen disease (vRD). Two patients had malignant pheochromocytoma. All except one patient with MEN had thyroid carcinoma. The two patients with malignant pheochromocytoma had MEN II. All patients were managed by either open or laparoscopic adrenalectomy or excision of extra-adrenal tumors. There was no perioperative mortality. CONCLUSIONS: Associated conditions in patients with familial varieties are often the dominant or initial presentation. Presence of other manifestations of familial pheochromocytoma significantly influenced the clinical course and prognosis. However, it had no bearing on operative outcome of these patients.

Adrenal tumors associated with inadequately treated congenital adrenal hyperplasia.

We describe a case of salt-losing congenital adrenal hyperplasia due to 21-hydroxylase deficiency complicated by a right adrenal adenoma. The development of adrenal adenoma or carcinoma in-patients with congenital adrenal hyperplasia (CAH) is rare; the etiology is not clear but is thought to be related to inadequate glucocorticoid therapy. Tumor formation is postulated to be a consequence of ACTH hypersecretion, which results from the lack of glucocorticoid synthesis. Our patient underwent clitorectomy and multiple constructive procedures as a newborn baby; she was managed with hormone replacement for many years. However while she took adequate mineralocortocoid dosage, she chronically tended to take inadequate doses of glucocorticoid seeking to increase her muscle ability. She developed a 6.5 cm adrenal tumor. She was managed by a hand-assisted laparoscopic radical adrenalectomy. The tumor was histologically consistent with adrenal adenoma. The importance of compliance with her medications was emphasized.

Pheochromocytoma in children and adolescents: a clinical spectrum.

PURPOSE: The purpose of the study was to identify the spectrum of disease characteristics of pheochromocytoma in children. METHODS: Records of 21 consecutive children diagnosed with pheochromocytoma were reviewed. Patients' age, sex, presentation, associated conditions, diagnostic and imaging modalities used, preoperative preparation, operative details, outcome, and follow-up were recorded. RESULTS: The study included 21 children. Patients were diagnosed clinically and confirmed by biochemical tests. Tumors were localized by imaging studies and all were confirmed pathologically. Patients included 17 with adrenal and 4 with extra-adrenal tumors including 1 in the urinary bladder. Seventeen had sporadic and 4 had familial pheochromocytoma. Associated manifestations were the predominant features in 1 of the 4 patients with familial pheochromocytoma. The patient with bladder pheochromocytoma presented with gross hematuria. Hypertension and visual disturbances were prominent findings in the other patients with sporadic form. Two patients (1 sporadic and 1 familial) had malignant pheochromocytoma. One patient with benign pheochromocytoma had multiple recurrences in chromaffin-containing sites. All patients were treated surgically. Seventeen patients were treated preoperatively with alpha-adrenergic blockade. Two patients continued to have significant visual disturbances. One patient with malignant pheochromocytoma died of the disease, and 1 with recurrent pheochromocytoma had neurologic consequences. CONCLUSIONS: Pheochromocytoma in children has unique characteristics. To our knowledge, this series is one of the largest reports of adrenal pheochromocytoma in children. It also reflects the spectrum of pheochromocytoma in this age group.

Urinary conduit formation using a retubularized bowel from continent urinary diversion or intestinal augmentations: ii. Does it have a role in patients with interstitial cystitis?

PURPOSE: Interstitial cystitis (IC) may require surgical treatment in a minority of patients in whom conservative treatment failed. This treatment includes enterocystoplasty (ECP), or continent or incontinent urinary diversion with or without cystourethrectomy. Patients with IC who underwent ECP or continent urinary diversion (CUD) occasionally have recurrent pain in the augmented bladder or continent pouch. In these patients a new ileal conduit is frequently constructed. Using part of the continent urinary diversion or bladder augmentation patch to make the ileal conduit has been reported. However, there may be some concern with performing the procedure in patients with IC because of the theoretical risk of continued pain in the converted ileal segment. We evaluated the role of conduit formation using retubularized bowel from ECP or CUD in patients with IC. MATERIALS AND METHODS: A total of 11 patients with a mean age of 45 years underwent conduit formation using the augmentation patch of ECP or part of the continent urinary reservoir. Patients were followed by history, physical examination, laboratory tests and urography. RESULTS: Followup was 20 to 80 months. One patient continued to have pelvic pain. None of the patients had residual pain in the conduit. One patient had intermittent pain in the conduit 32 months after conversion. Two patients had ureteral obstruction requiring ureteral reimplantation revision. No patient complained of new gastrointestinal problems. CONCLUSIONS: Retubularization of a previously used bowel segment from ECP or CUD to form a urinary conduit seems to be an acceptable alternative in patients with IC.

Experience with coapted gastric tube outlet and composite gastrointestinal reservoir for continent cutaneous urinary diversion.

PURPOSE: Established techniques for urinary diversion are not ideal for certain patients such as those with extensive pelvic irradiation, metabolic acidosis, short bowel syndrome or renal insufficiency. In a multi-institutional study a gastrointestinal reservoir was previously found to provide metabolic balance in such patients. We used a coapted gastric tube as the continent outlet in patients undergoing gastrointestinal urinary diversion. We evaluate the long-term functional results of the gastric tube to provide continence and report our long-term followup results. MATERIALS AND METHODS: A composite reservoir was constructed from gastric and transverse colon or ileal segments. In addition, a gastric strip, in continuity with the gastric segment of the composite reservoir, was tubularized and coapted to provide the continence mechanism. RESULTS: A total of 19 patients with a gastrointestinal reservoir and coapted gastric tube outlet were followed for 24 to 101 months, of whom 18 are continent day and night on intermittent catheterization every 3 to 8 hours. Four of 34 ureters (12.5%) became obstructed. One patient had significant preoperative renal insufficiency, which progressed to end stage renal disease. Another patient had slow progression of renal insufficiency. In the remaining 17 patients mean serum creatinine did not change significantly while serum chloride and bicarbonate improved or remained normal. CONCLUSIONS: A coapted gastric tube functions well as the continence mechanism in patients with a gastrointestinal urinary reservoir. We also confirm the metabolic advantages of a composite gastrointestinal urinary reservoir. Gastrointestinal cutaneous urinary diversion can be an alternative to incontinent diversion in select patients who are not suitable for other forms of diversion.

Urinary conduit formation using retubularized bowel from continent urinary diversion or intestinal augmentations: I. A multi-institutional experience.

OBJECTIVES: To present our multi-institutional experience with retubularized bowel conduits. Some patients with augmentation cystoplasty, augmented rectal bladder, or continent urinary reservoirs require conversion to an ileal conduit for various reasons. This is generally accomplished by construction of a de novo ileal conduit. We retubularized the bowel segment used in the augmented bladder or the urinary reservoir to form the intestinal urinary conduit. METHODS: A total of 29 patients (mean age 42 years) underwent conduit formation using the augmentation patch of enterocystoplasty, the segment of cutaneous urinary diversion reservoir or orthotopic neobladder, or the augmentation patch of an augmented rectal bladder. Patients were followed up with history, physical examination, laboratory tests, and imaging studies. RESULTS: The follow-up ranged from 12 to 130 months (mean 42). One patient developed small bowel obstruction requiring laparotomy with lysis of adhesions. None of the other patients had bowel complications. Two patients developed ureteral obstruction with hydronephrosis. One had pyocystitis requiring simple cystectomy. One patient was lost to follow-up. CONCLUSIONS: Retubularization of previously used bowel segments to construct a urinary conduit is feasible and has several advantages. It is possible to perform this procedure after several types of reconstructive procedures in which bowel was incorporated into the urinary tract.