Stamatiou K N, Karakos C D
Urology Department, Tzaneio General Hospital, Piraeus & Paediatric Clinic General Hospital of Thebes, Thebes, Greece.
Indian J Urol. 2010 Oct;26(4):582-4. doi: 10.4103/0970-1591.74469.
The urofacial syndrome is probably a subset of neurogenic bladder dysfunction syndromes characterized by detrusor-sphincter discoordination along with a characteristic inversion of facial expression with laughing. This characteristic facial expression can facilitate early detection of this disorder, which leads to poor bladder emptying with high residual urine, hydro-nephrosis with vesico-ureteral reflux and potentially renal failure if left untreated. The etiology of the urofacial syndrome is unknown. In our case, a 12-year-old boy of Middle-Eastern origin presented to the Outpatient Department of our hospital with left pyelonephritis, hydronephrosis and bladder dilatation. Voiding cystourethrography performed 15 days later revealed left vesicoureteral reflux. Cystoscopy revealed bladder trabeculation however an anatomic urethral obstruction was not noticed. Both, neurological examination and radiography of the lumbosacral spine were normal. Urodynamic evaluation revealed the typical findings of detrusor-sphincter discoordination.
排尿面容综合征可能是神经源性膀胱功能障碍综合征的一个子集，其特征为逼尿肌-括约肌不协调，以及笑时面部表情出现特征性倒置。这种特征性面部表情有助于早期发现该疾病，若不治疗，该疾病会导致膀胱排空不佳、残余尿量高、伴有膀胱输尿管反流的肾积水，并可能发展为肾衰竭。排尿面容综合征的病因尚不清楚。在我们的病例中，一名来自中东的12岁男孩因左肾盂肾炎、肾积水和膀胱扩张到我院门诊就诊。15天后进行的排尿性膀胱尿道造影显示左侧膀胱输尿管反流。膀胱镜检查发现膀胱小梁形成，但未发现解剖学上的尿道梗阻。神经学检查和腰骶椎X线检查均正常。尿动力学评估显示出逼尿肌-括约肌不协调的典型表现。
