Iuchi H, Mizunaga M, Miyata M, Kaneko S, Tokunaka S, Yachiku S, Oki J, Azuma M
Department of Urology, Asahikawa Medical College.
Nihon Hinyokika Gakkai Zasshi. 1991 Jun;82(6):994-7. doi: 10.5980/jpnjurol1989.82.994.
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.
门克斯卷发综合征是一种预后不良的先天性疾病,呈X连锁隐性遗传。该疾病的临床特征为癫痫发作、头发脆弱、生长发育迟缓、智力障碍等。最近发现,该疾病还具有膀胱多发憩室及其他泌尿系统异常的特征。一名6岁男孩出生几周后在另一家医院因癫痫发作、头发脆弱和血清铜水平低被诊断为患有门克斯卷发综合征。由于他自己无法排尿,护士通过克勒德手法帮他排尿。1989年10月8日,他因肉眼血尿和排尿疼痛被转诊至我院。经X线检查发现右肾鹿角形结石和膀胱多发憩室。由于他的病情较差,出院后一直采取保守治疗。