[A case of Menkes' kinky hair disease with a renal calculus and diverticula of the bladder]

Abstract

Menkes' kinky hair disease is a poor prognostic congenital disease with X-linked recessive inheritance. This disease is clinically characterized by seizures, friable hair, growth failure, mental retardation and others. Recently it has been known that this disease is also characterized by multiple diverticula of the bladder and other urological abnormalities. A 6-year-old boy was diagnosed as having Menkes' kinky hair disease at another hospital several weeks after birth because of seizures, friable hair and low serum copper level. He voided by Credé's maneuver by the nurse because he could not void for himself. He was referred to our hospital for macrohematuria and micturition pain on October 8, 1989. Right renal staghorn calculus and multiple diverticula of the bladder were found by roentgenographic examination. He has been treated conservatively after discharge because of his poor condition.