Saito M, Kondo A, Kato K
Department of Urology, Nagoya University School of Medicine, Japan.
Br J Urol. 1991 May;67(5):472-6. doi: 10.1111/j.1464-410x.1991.tb15189.x.
Fifteen patients with partial sacral agenesis were treated over a mean period of 68 months. Partial unilateral agenesis was present in 7 and bilateral sacral agenesis was present in 8. Three important diagnostic features are emphasised: symptoms referable to neurogenic bladder without an obvious neurogenic lesion (all 15 patients); skin or hair abnormalities in the lumbosacral region (9/15) and paraesthesia or other neurological disorders of the lower extremities (8/15). The definitive diagnosis can be made by careful inspection of a plain film of the lumbosacrum. Detrusor contractility was absent in 13 patients but preserved in 2; 11 patients were managed by clean intermittent catheterisation, 2 voided using detrusor contractility and 2 voided by means of the Valsalva/Credé manoeuvre. In 5 patients surgery in the intradural space preserved sexual function and prevented further deterioration in function of the lower extremities but could not restore bladder function that had already deteriorated. Complete continence was achieved in 11 patients and socially acceptable continence in 4. Early diagnosis and conservative treatment with clean intermittent catheterisation are extremely important in management. Should functional deterioration of the bladder and/or sensomotor function of the lower limbs occur, neurosurgery should be performed promptly.
15例部分骶骨发育不全患者接受了平均68个月的治疗。其中7例为部分单侧发育不全，8例为双侧骶骨发育不全。强调了三个重要的诊断特征：无明显神经源性病变的神经源性膀胱症状（所有15例患者）；腰骶部皮肤或毛发异常（9/15）以及下肢感觉异常或其他神经功能障碍（8/15）。通过仔细检查腰骶部平片可做出明确诊断。13例患者逼尿肌无收缩力，2例保留；11例患者采用清洁间歇性导尿管理，2例利用逼尿肌收缩力排尿，2例通过瓦尔萨尔瓦/克勒德手法排尿。5例患者进行硬膜内手术保留了性功能并防止下肢功能进一步恶化，但无法恢复已经恶化的膀胱功能。11例患者实现了完全控尿，4例达到了社会可接受的控尿水平。早期诊断和清洁间歇性导尿的保守治疗在管理中极为重要。如果膀胱功能和/或下肢感觉运动功能出现恶化，应立即进行神经外科手术。
