Pediatric metanephric adenoma with Fanconi-Bickel syndrome: a case report and review of literature.

BACKGROUND: Metanephric adenoma (MA) is a rare benign renal tumor that resembles renal cell carcinoma and Wilms' tumor in radiological as well as pathological appearance. It can present at any age or gender, and it is extremely rare in the pediatric age group with less than 50 reported cases. Fanconi-Bickel syndrome (FBS) is a rare autosomal recessive disorder of carbohydrate metabolism. Herein, we report a rare incidence of MA in a boy with a genetically confirmed FBS who underwent a nephron-sparing surgery. CASE PRESENTATION: A 21-month-old boy was referred to the pediatric urology clinic for further evaluation of an incidentally discovered left renal mass. His laboratory investigations showed normal renal function, hypophosphatemia, high blood glucose level, markedly elevated serum alkaline phosphatase, and low serum vitamin D. Blood picture showed signs of polycythemia and urinalysis showed glucosuria and aminoaciduria. Genetic testing was positive for Fanconi-Bickel syndrome. Radiological investigations were carried out with abdominal ultrasound and computerized tomography (CT) with intravenous contrast documented a sharply marginated peripheral hypoechoic hypovascular homogeneously enhancing mass at the upper pole of the left kidney measuring 2.0 × 1.8 × 2.0 cm. The child was admitted and started on supportive treatment until his medical condition was stabilized, then underwent elective open left partial nephrectomy via a left upper transverse abdominal transperitoneal incision. The excised renal mass was sent for histopathological assessment and was found to be a tumor composed of tightly packed tubules with no mitotic figures or necrosis and scanty cytoplasm consistent with MA. After good hydration and tumor resection, his polycythemia gradually improved. The patient was discharged home in a good condition with his proper replacement therapies. His follow-up abdominal ultrasound after 12 months showed no signs of recurrence. CONCLUSIONS: Metanephric adenoma is extremely rare in the pediatric age group, especially in those who have a FBS. The only way to diagnose and treat this tumor is by surgical resection as most patients are asymptomatic. A nephron-sparing surgery is better for this age group in which the future renal function is considered.

Unusual Presentation, Relapse, and Metastasis of a Pediatric Testicular Yolk Sac Tumor: Case Report.

Testicular tumors are not uncommon in children and represent 1%-2% of all pediatric malignancies. Prepubertal testicular yolk sac tumor is the most common childhood testicular cancer, accounting for 70%-80% of all cases. The clinical presentation varies from one patient to another; most common presentation is painless scrotal mass. Herein, we present a case of pediatric patient with a testicular yolk sac tumor who had unusual presentation followed by a local relapse and metastasis and continued to have high markers while he was on chemotherapy, then underwent retroperitoneal lymph node dissection and local recurrence excision.

Pancreatic acinar cystadenoma in a background of diffuse multifocal pancreatic cystic lesions: A case report.

INTRODUCTION: Acinar cell cystadenoma (ACA) is very rare and benign neoplasm of the pancreas; it arises from the normal acinar parenchyma of the pancreas and may exist as solitary or diffuse lesions. PRESENTATION OF CASE: We here present a case of thirty-seven years old gentleman who incidentally was found to have multifocal cystic lesions distributed throughout the tail, body and uncinate process of the pancreas. DISCUSSION: Pre-operative diagnosis of pancreatic ACA remains very difficult and challenging despite advances in imaging techniques. Due to diffuse involvement of the pancreas by different size cystic lesions in this case, the initial diagnosis was suspected to be SB-IPMNs. A Surgical resection was performed, and pathological analysis of the lesions was consistent with ACAs. CONCLUSION: To avoid unnecessary major pancreatic resection and its consequent complications. We hereby recommend clinicians to have a high index of suspicion for ACA within the differential of pancreatic cystic neoplasm.

A rare cause of small bowel perforation: A metastatic lesion from squamous cell carcinoma of the tongue.

BACKGROUND: Metastatic lesions from head and neck tumours to the small bowel are extremely rare, and metastasis from tongue squamous cell carcinoma in particular has been reported only twice in the English literature. CASE PRESENTATION: A 76 year-old lady diagnosed with a loco-regionally advanced tongue squamous cell carcinoma but deferred surgical resection. Seven months later after her diagnosis, she presented with generalized abdominal pain, due to image-proven viscous perforation, thus taken for emergent exploratory laparotomy, where the perforation was found at the distal ileum, which was resected, and a primary side to side anastomosis was done. The histopathological examination of the resected segment revealed squamous cell carcinoma originating from the tongue. The patient was deteriorating clinically and vitally during her stay, and passed away on day 16 post operation due to multi-organ dysfunction syndrome. CONCLUSION: Metastatic lesions from tongue carcinoma found in the vicinity of the small bowel represent a terminal stage with a dismal prognosis, and when these lesions present clinically with a complicated course, the survival rate is decreased significantly.

Herb-induced acute bone marrow intoxication and interstitial nephritis superimposing glomerular C1q deposition in a patient with paroxysmal nocturnal hemoglobinuria.

Paroxysmal nocturnal hemoglobinuria is a rare disease of the red blood cell membrane that renders it lyzable by the complement system, leading to chronic intravascular hemolysis. Renal hemosiderosis is a well-known complication of intravascular hemolytic anemia and can lead to acute kidney injury and renal failure. The use of herbal medicine is common worldwide. The nephrotoxicity of herbal remedies can take several forms, which include acute kidney injury and acute and chronic interstitial nephritis. In addition, the use of herbal remedies can result in bone marrow toxicity and suppression. C1q nephropathy is an uncommon form of glomerular disease characterized by dominant or co-dominant glomerular immunofluorescence positivity for C1q in the absence of clinical and serological evidence of systemic lupus erythematosus, and has various clinical presentations and outcome. Here, we report a patient of undiagnosed paroxysmal nocturnal hemoglobinuria who consumed herbal medicine of unknown constituents and clinically presented with anemia and acute kidney injury. The pathological findings of bone marrow and renal biopsies that include bone marrow intoxication, severe renal hemosiderosis and acute interstitial nephritis and kidney injury, as well as co-dominant glomerular deposition of C1q, are discussed. In addition, we discuss and hypothesize the possible pathogenesis of glomerular C1q deposition in the setting of paroxysmal nocturnal hemoglobulinuria.

Left-sided congenital diaphragmatic hernia with multiple congenital cardiac anomalies, hernia sac, and microscopic hepatic heterotopia: a case report.

Congenital diaphragmatic hernia is a common congenital anomaly of uncertain etiology. Its association with multiple congenital anomalies in various organs is well recognized and antenatal radiological evidence of congenital diaphragmatic hernia warrants thorough evaluation to detect other anomalies, some of which can be life threatening. Rarely, heterotopic hepatic tissue is identified in the hernia, a rare pathological finding, exhibiting more than one macroscopic and microscopic characteristics, and always associated with cardiac congenital anomalies. Herein, we report a case of left-sided microscopic heterotopic hepatic tissue in a congenital diaphragmatic hernia in an infant with multiple cardiac congenital anomalies, but with preserved pericardium.