Dandy-Walker syndrome with duplex kidney abnormalities in trisomy 18 - A rare case report.

OBJECTIVE: Trisomy 18 is one of the major numerical chromosomal disorders. The incidence of trisomy 18 is approximately one in 6000 live births. Dandy-Walker malformation (DWM) is the most common congenital malformation of the cerebellum, with an incidence of about one in 5000 live births. The incidence of trisomy 18 associated with DWM is rare and long-term survival rate is very low. CASE REPORT: A case involving a 39-year-old pregnant female with a case of trisomy 18 associated with DWM. CONCLUSION: The incidence of trisomy 18 associated with DWM is rare, and our report presents an unusual case that supplements our knowledge of this condition. We report a case involving a 39-year-old pregnant female with a case of trisomy 18 associated with Dandy-Walker malformation (DWM). Fetal ultrasonography showed hypoplasia of the cerebellar vermis and dilatation of the fourth ventricle and was characterized by an enlarged posterior fossa. Fetal magnetic resonance imaging showed inferior vermian hypoplasia and a large posterior fossa cyst communicating with the fourth ventricle causing high insertion of the torcular herophili, which was compatible with DWM. Furthermore, the karyotyping report revealed trisomy 18. The incidence of trisomy 18 associated with DWM is rare, and our report presents an unusual case that supplements our knowledge of this condition.

Chronic graft-versus-host disease complicated by nephrotic syndrome.

Chronic graft-versus-host disease (cGVHD) is one of the most frequent and serious complications of allogeneic hematopoietic stem cell transplantation (HSCT). Nephrotic syndrome (NS) is an uncommon and underrecognized manifestation of cGVHD. We report a patient who developed NS 18 months after allogeneic bone marrow transplantation. The onset of NS was accompanied by active manifestations of cGVHD, and immunosuppressants had not been tapered recently. Renal biopsy revealed membranous nephropathy. The patient failed to improve with three combined immunosuppressants (prednisolone, cyclosporine, and mycophenolate mofetil), but achieved partial remission after intravenous immunoglobulin (IVIG) infusion. Twenty-four months after the diagnosis of NS, the patient was still in hematological remission, with normal serum creatinine level, urinary protein loss of 0.7-1.9 g/day and mild oral mucositis. Our report suggests that NS can be a cGVHD-related immune disorder in HSCT patients. Monitoring of renal parameters, especially proteinuria, is important in cGVHD patients. Our case indicated that post-transplant NS, occurring without history of tapering or following immunosuppressant withdrawal, presents a more severe activity of cGVHD and a relatively severe clinical course. IVIG may modify and control the refractory GVHD-related NS, and can be one of the choices of treatment.

Laparoscopic partial cystectomy with endo-GIA stapling device in bladder diverticular carcinoma.

BACKGROUND AND PURPOSE: The incidence of bladder diverticular carcinoma is low, ranging from 0.8% to 10%. Traditionally, treatment consisted of open surgical excision or transurethral resection. More recently, laparoscopic surgery has become widely accepted. We report here a case of bladder diverticular carcinoma treated with laparoscopic partial cystectomy. CASE REPORT: A 56-year-old man presented with gross hematuria and was found to have transitional-cell carcinoma in a bladder diverticulum. We performed transurethral resection of the tumors and laparoscopic partial cystectomy. A 45-mm Endo-GIA stapler (U.S. Surgical Corp., Norwalk, CT) was used for direct resection of the diverticular tissue, and the specimen was removed en bloc. Suture of the seromuscular layer was performed with the intracorporeal knotting technique. Lymph-node dissection also was performed. At 3-month follow-up, it was noted that there was tumor recurrence that was not at the original diverticular site, and transurethral resection was carried out. After 1 year, cystoscopy and CT scans showed neither recurrence nor metastasis. No encrustation or erosion was induced by the staples. CONCLUSION: Laparoscopic partial cystectomy can be an alternative treatment for bladder diverticular carcinoma.