in 1987 , ochoa and gorlin suggested the term urofacial syndrome ( ufs ) to describe a syndrome characterized by a non - neurogenic bladder dysfunction and a characteristic facial feature which consists on the inversion of facial expression with laughing . the first signs of the disorder are the recurrent urinary tract infections , nocturnal enuresis and constipation while in most of the cases patients have severe obstructive symptoms and significant bladder dysfunction at the time of diagnosis . although rare , this disorder has to be considered in the differential diagnosis of enuresis in children with recurrent urinary tract infections and residual urine . our aim is to further document the existence of this syndrome and to increase awareness among practicing pediatricians of the classical facial characteristics that facilitate diagnosis . a 12-year - old boy of middle - eastern origin presented to outpatient department of our hospital with left flank pain , dysouria , fever ( up to 38.5c ) , persistent vomiting ( hyperemesis ) and severe dehydration for four days . on physical examination , he presented with tenderness on left pleuro - vertebral angle and a palpable bladder . a characteristic inversion of facial expression with smiling was also noticed [ figure 1 ] . inversion of facial expression with smiling the patient complained of urgency and with associated urge incontinence which has been initially considered as symptoms of acute pyelonephritis . upon admittance , his white blood cell ( wbc ) count was elevated ( 14.5   10/l , granulocytes 85% ) , electrolytes were diminished ( na : 135 , k : 3.1 ) , while red blood cell count and hemoglobin concentration were normal ( hct : 37.5% , hb : 12.5mg / dl , rbc : 4.26m / micoliter ) . his treatment included intravenous amoxicillin - clavulanic acid , intravenous fluid administration and paracetamol oral for pain relief . on the following four days his fever persisted at above 37c , with spikes up to 38.5c during evening hours . abdominal ultrasound on the fourth day of hospitalization confirmed a dilatation of renal pelvis and initial ureter on left side and a slight thickness of bladder wall . post urinating ultrasound examination of the bladder revealed a residual urine volume of up to 140 cc . improvement was noticed in both his clinical picture and his lab results two days after the placement of a 14 ch foley catheter . voiding cystourethrography performed 15 days later showed a narrowing of the urethra at the level of the external sphincter and left vesicoureteral reflux . cystoscopy revealed bladder trabeculation , however , an anatomic urethral obstruction was not noticed . both the neurological examination and radiography of the lumbosacral spine were normal . urodynamic evaluation ( pressure - flow study ) revealed the typical findings of detrusor - sphincter discoordination [ figure 2 ] . more precisely , the filling phase ( thick yellow line ) revealed both phasic and final type detrusor overactivity and urine leakage ( red arrow ) . the flow phase was characterized by increased detrusor pressure and low flow ( pdet.max 89 cm h2o , pdetqmax 67 cm h2o , and maximum flow ( qmax ) value 7 ml / sec ) . although bladder augmentation and intermitted catheterization were suggested , patient 's parents refused any intervention and the boy was discharged home . ufs is a rare disease characterized by detrusor - sphincter discoordination ( with the characteristic symptomatology consisting of recurrent urinary infections , incontinence , constipation , dysuria , frequency , and enuresis ) in children and young adolescents with a characteristic facial expression consisting of inversion of facial expression with laughing . patients have no apparent neurological or obstructive abnormality therefore ; the syndrome may in fact represent a subgroup of the non - neurogenic bladder dysfunction . according to other investigators , ufs represents a distinct entity . since the laughing and crying centers are located in upper pons of the midbrain lying in close proximity to the micturition center , it has been speculated that a subtle neurologic lesion may simultaneously affect both regions therefore resulting in this clinical association . recent research , however , suggests that ufs probably represent a genetic inherited disease transmitted in an autosomal recessive fashion . mild cases may simply present with the characteristic facial findings and mild or at times no urinary tract issues . severe bladder dysfunction with a significant functional obstruction may in other cases lead to poor bladder emptying with high residual urine , hydroureteronephrosis with vesicoureteral reflux and potentially renal failure . differential diagnosis may be difficult , especially in patients presenting with only symptoms suggesting infection ( urgency , frequency and urgency incontinence ) or elimination dysfunction ( constipation and encopresis ) . while other non - neurogenic bladder dysfunction conditions such as  lazy bladder syndrome  and  urge syndrome the early institution of prophylactic treatment in these cases may prevent the subsequent development of urinary tract deterioration . failure to recognize patients with this disorder may lead to an unnecessarily complicated clinical course . in addition , the positive family history for obstructive uropathy should have also raised suspicion for a possible hereditary form of bladder dysfunction . the basic therapeutic goals for cases detected early are the restoration of balanced bladder emptying and the prevention of upper urinary tract deterioration . urinary diversion or bladder augmentation may provide the only alternative to prevent an ongoing deterioration of renal function .
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 .