Look Beyond a Strange Smile: A Clue to Renal Disease

Abstract

A 14-year-old boy presented at the emergency department after having a generalized tonic-clonic seizure associated with severe obtundation of sensorium in the postictal period. Blood pressure was very high (180/ 100 mm Hg). He had previously suffered from polyuria and polydipsia for an unknown duration. Secondary nocturnal enuresis had been present since 8 years of age, after 5 years of dryness.Initial biochemical and hematologic evaluation was as follows: hemoglobin 7.4 g/dL, serum creatinine 9.63 mg/dL, serum urea 299 mg/dL, pH 7.06, HCO3 8.2 mmol/L, albumincorrected calcium 4.9 mg /dL (normal range 8.5-10.1), and phosphorus 9.1 mg/dL (normal range 2.7-5). Serum parathyroid hormone level was 228 pg/mL (normal range 12-65), vitamin D < 4 ng/mL (normal range 20-65), urine specific gravity was <1.005, and moderate proteinuria was detected.Ultrasound examination showed important bilateral ureterohydronephrosis. Magnetic resonance urography revealed bilateral renal cortex thinning, bilateral ureteral dilatation, and an irregular and much thickened urinary bladder wall (Figure 1). Furthermore, cystoscopy excluded posterior urethral valve. Urodynamic study revealed severely trabeculated bladder within vesicoureteric reflux and a detrusor-sphincter dyssynergia.Therapeutic goals were to restore bladder emptying and prevent damage to the urinary tract using prophylactic antibiotics, clean intermittent catheterization, and anticholinergic drugs. Evolution was unfavorable and the child required kidney transplantation.A detailed and thorough physical examination revealed inverted facial expression with grimacing while smiling (Figure 2). Homozygous HPSE2 mutations NM_021828.4 (HPSE2): c.457C>T (p.Arg153*) responsible for Ochoa syndrome have been detected. 1 Ochoa or urofacial syndrome is characterized by infantile onset of urinary bladder voiding dysfunction associated with a characteristic inversion of the facial expression when laughing, and often bowel dysfunction (constipation or encopresis). These patients have an inverted smile, and when smiling or laughing, they seem to be crying. 2 The laughing and crying centers and the origin of the facial nerves lie in close proximity to the pontine centers for micturition/urine storage in the reticular formation in the brain stem. It is hypothesized that lesions in this area may, therefore, affect several organ systems. 3 Bladder voiding dysfunction increases the risk for urinary incontinence, megacystis, vesicoureteric reflux, ureterohydronephrosis, and progressive renal impairment. For this reason, early diagnosis of the urofacial syndrome is important to avoid upper urinary tract damage, renal failure and the potential secondary severe complications like alteration of electrolyte and acid base balance that we found in this case. ■