A 6-year-old girl presented to the hospital with a urinary tract infection. She was the second child of a consanguineous couple who was born through a normal vaginal delivery after an uneventful pregnancy. She was otherwise healthy until she presented with enuresis and urinary tract infection, which after further evaluation, led to the diagnosis of Ochoa Syndrome.
Examinations Revealed a Dysfunctional Bladder
Renal function tests (RFTs) of the patient showed elevated serum urea, creatinine and Glomerular Filtration Rate (GFR) of 20ml/min. Imaging showed enlarged kidneys. The most significant finding was a residual urine volume of 130ml after micturition, confirming a dysfunctional bladder.
The doctors also noticed atypical facial expressions in this patient. Her facial features were consistent with those of urofacial syndrome. Hence, due to coexisting bladder dysfunction and characteristic facial expressions, doctors confirmed the diagnosis of Ochoa Syndrome.
What is Ochoa Syndrome?
Patients with Ochoa or urofacial syndrome have a dysfunctional bladder with characteristic facial expressions. The bladder has avoided defects, which means that residual volume is always left post-micturition. It increases the risk for infection, vesicoureteral reflux and kidney damage. These patients have a typical inverse facial expression, i.e., when they laugh, they appear as if they are crying. However, most patients with this condition have only one of the two presentations. They either have unusual facial features or bladder dysfunction. It is uncommon for them to present with both. Doctors usually make the diagnosis based on a facial grimace.
Treatment of the Patient
Initially, treatment of the patient involved antibiotic prophylaxis and catheterization to help her void her bladder completely. However, since the prognosis of Ochoa syndrome is poor, several other treatment options were employed before she showed progress.
Source: Clanton S, Adiga R, Christie A, Ashley D (2021) The Urofacial (Ochoa) Syndrome. Int J Rare Dis Disord 4:037. doi.org/10.23937/2643-4571/1710038