Synchronized Laparoscopic Bilateral Adrenalectomy for Pheochromocytoma in Multiple Endocrine Neoplasia Syndrome: A Case Report

Pheochromocytomas are tumors producing catecholamines that arise from chromaffin cells in the adrenal medulla. They are usually benign in multiple endocrine neoplasia type 2 (MEN2) syndrome, but they tend to present bilaterally in 50–80% of the patients. Few researchers have reported success with simultaneous laparoscopic bilateral adrenalectomy. Hence, we report a 48-year-old woman who presented with a panic attack, headache, and abdominal discomfort that had started 10 years ago. The computed tomography (CT) scan showed a large bilateral cystic lesion in both adrenal glands in favor of pheochromocytomas (30 × 22 mm and 18 × 15 mm on the right side and 40 × 33 mm and 35 × 28 mm on the left side). The patient underwent bilateral laparoscopic adrenalectomy without intraoperative or postoperative complications. The total blood loss was 50 cc, and the operative time was 4 h. The histopathology of the specimen revealed pheochromocytomas of adrenal masses. In conclusion, our case demonstrates that synchronized laparoscopic bilateral adrenalectomy can be a safe and feasible treatment option for pheochromocytomas in MEN2 patients

Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals

FINCA syndrome [MIM: 618278] is an autosomal recessive multisystem disorder characterized by fibrosis, neurodegeneration and cerebral angiomatosis. To date, 13 patients from nine families with biallelic NHLRC2 variants have been published. In all of them, the recurrent missense variant p.(Asp148Tyr) was detected on at least one allele. Common manifestations included lung or muscle fibrosis, respiratory distress, developmental delay, neuromuscular symptoms and seizures often followed by early death due to rapid disease progression.Here, we present 15 individuals from 12 families with an overlapping phenotype associated with nine novel NHLRC2 variants identified by exome analysis. All patients described here presented with moderate to severe global developmental delay and variable disease progression. Seizures, truncal hypotonia and movement disorders were frequently observed. Notably, we also present the first eight cases in which the recurrent p.(Asp148Tyr) variant was not detected in either homozygous or compound heterozygous state.We cloned and expressed all novel and most previously published non-truncating variants in HEK293-cells. From the results of these functional studies, we propose a potential genotype-phenotype correlation, with a greater reduction in protein expression being associated with a more severe phenotype.Taken together, our findings broaden the known phenotypic and molecular spectrum and emphasize that NHLRC2-related disease should be considered in patients presenting with intellectual disability, movement disorders, neuroregression and epilepsy with or without pulmonary involvement

The role of renal autotransplantation in treatment of nutcracker syndrome

To report our experience with renal autotransplantation in treatment of gross hema-turia caused by nutcracker Syndrome (NCS). Between September 2005 and January 2008, four pa-tients of mean age 25.5 years (range: 23-28) with gross hematuria were diagnosed to have NCS. Investigations revealed isolated hematuria on urinalysis, a bloody efflux from left ureteral orifice by urethrocystoscopy, dilatation of left renal vein (LRV) with significant difference in peak sys-tolic velocity in Colour Doppler UltraSonography (CDUS) and dilatation and compression of LRV between aorta and superior mesenteric artery in MRA. After operation, hematuria dis-appeared in all patients. No vascular or urological complication was seen. Follow up ranged from 4 to 24 months. In conclusion, autotransplatation of left kidney is very effective for the treatment of symptomatic NCS

Extramedullary Hematopoiesis in a Man With β-Thalassemia: An Uncommon Cause of an Adrenal Mass

Introduction Extramedullary hematopoiesis (EMH) commonly occurs in the spleen, liver and lymph nodes. Rare cases of EMH in the adrenal gland have been reported. Case Presentation We report the case of a 33-year-old man from the South of Iran suffering from major β-thalassemia, who underwent open left adrenalectomy and the histopathology revealed EMH. Conclusions In patients in which a history of hematologic disorders exists, careful imaging and hormonal assay should be done to certify a diagnosis of EMH. However, the surgical management becomes inevitable in certain cases