Menkes' Kinky Hair Disease Associated with a Large Bladder Diverticulum: A Case Report

Abstract

We report a 2 year-old boy with Menkes' kinky hair disease associated with a solitary huge bladder diverticulum. To our knowledge this is the first reported case treated successfully by surgical excision under general anesthesia, which has been previously considered hazardous due to the poor general condition of the patient.

Effects of Copper Supplementation on the Structure and Content of Elements in Kidneys of Mosaic Mutant Mice

“…As found in this work, copper administration significantly increased the lifespan of ms/−(Cu) mice, as also observed in Menkes patients treated with copper. The urological disorders of those patients, such as bladder diverticula, enlargement of the bladder and ureter, urinary tract infections, hydronephrosis, ureteropelvic junction obstruction, vesico-ureteral reflux, and cryptorchism, seem to be a consequence of a lack of activity of copper-dependent enzyme lysil oxidase but kidney disease is caused by enormously high copper concentration in the cells of this organ [10,12,[61][62][63]. Both Menkes patients treated with copper and the ms/−(Cu) mice developed urinary disorders with age [61,63].…”

Excision of massive bladder diverticula in Menkes disease

“…The treatment of the other two patients is not mentioned [5]. Kageyama et al (1997) first described excision of a large bladder diverticulum associated with Menkes disease. Though there were no immediate postoperative complications, the outcome in terms of bladder function and prevention of further UTI is not mentioned [2].…”

“…Kageyama et al (1997) first described excision of a large bladder diverticulum associated with Menkes disease. Though there were no immediate postoperative complications, the outcome in terms of bladder function and prevention of further UTI is not mentioned [2]. Oshio et al (1997) describe diverticulectomy in a 15 month old necessitated by rupture of a diverticulum.…”

Management of Bladder Diverticula in Menkes Syndrome: A Case Report and Review of the Literature

“…The longest documented surgical follow-up is 2 years. 3 Because the life span of these patients is significantly shortened, there is a question whether surgical treatment is warranted given their propensity to recur and generally poor overall prognosis.…”

“…1 Urologic complications are common in Menkes syndrome, such as bladder diverticula, bladder outflow obstruction, renal rupture, 2 cryptorchidism, urinary tract infections (UTIs), and vesicoureteral reflux. 3 These complications may be attributed to decreased lysyl oxidase activity, which is necessary for collagen formation. 1 A 2006 study evaluated the efficacy of copper therapy in preventing urologic complications in a retrospective review of 57 cases.…”