ARTHROGRYPOSIS MULTIPLEX CONGENITA: BLOOD VESSEL HYPOPLASIA AND IMPLICATIONS DURING RENAL TRANSPLANTATION

Abstract

Arthrogryposis multiplex congenita is a crippling congenital abnormality of muscle development characterized by marked muscle contracture and nonprogressive, limb joint deformity. The incidence is 1/3,000 births. The most frequent isolated contractures are clubfoot and congenital hip dislocation. 1 Arthrogryposis is seen in a number of syndromes with or without central nervous system involvement and is associated with multiple developmental defects. However, vascular complications with arthrogryposis multiplex congenita are not well described. 1 We report on a renal transplant recipient with arthrogryposis multiplex congenita. Unexpected severe blood vessel hypoplasia complicated transplant revascularization and led to acute thrombosis of the allograft, necessitating reperfusion and revascularization to the aortic bifurcation and common iliac vein. CASE REPORT A 20-year-old man with arthrogryposis multiplex congenita presented for renal transplantation. He had a small body habitus and classical locomotor findings. At birth he had an imperforate anus for which he underwent perinatal colostomy. The correction was complicated by a vesicorectal fistula necessitating self-catheterization and treatment for recurrent urinary tract infections. Chronic pyelonephritis developed with subsequent renal failure. He underwent a native nephrectomy of a horseshoe kidney for chronic pyelonephritis in preparation for renal transplantation. Cardiac, urological and general assessment for transplantation revealed no contraindications but pelvic angiography was not done. Live related renal transplantation was performed with the biological father of the patient as a kidney donor. Donor nephrectomy was uncomplicated. At the time of the extraperitoneal transplant procedure the iliac vessels of the patient were hypoplastic. The renal artery was anastomosed to the external iliac artery and the renal vein was anastomosed to the external iliac vein. Upon revascularization the graft initially became pink and then gradually turned dusky within a few minutes. The graft was subsequently removed and reperfused with cold Ringer’s lactate, and the external iliac vein was transected and ligated. After reperfusion, the donor kidney was subsequently reanastomosed intraperitoneally to the bifurcation of the aorta and the renal vein was anastomosed end to end to the common iliac vein, followed by reconstruction of the femoral artery. This second anastomosis was successful with fair perfusion of the donor kidney. Upon completion of the procedure, the kidney was perfused in a patchy manner. Postoperatively, the patient required dialysis and intensive care monitoring but recovered and subsequently was discharged home with normal serum creatinine. Coagulation studies performed after transplant were normal. Three months after healthy independent living, he died unexpectedly. Autopsy did not reveal the cause of death.