Can a congenital dysfunctional bladder be diagnosed from a smile? The Ochoa syndrome updated

Abstract

During the last 40 years over 100 patients have been reported with a dysfunctional lower urinary tract associated with a peculiar distortion of the facial expression. This most unusual disorder was initially considered a local observation. Time, however, has proven otherwise, since patients with this syndrome have now been reported from various countries throughout the world. This association of lower urinary tract and bowel dysfunction with an abnormal facial expression was named the urofacial (Ochoa) syndrome. Genetic studies have demonstrated that this condition is inherited as an autosomal recessive trait, and a potential gene has been mapped to chromosome 10q23-q24. There is also enough evidence to suggest that patients with this syndrome as well as those with subclinical neurological bladder, occult neuropathic bladder, non-neurogenic neurogenic bladder or Hinman syndrome, dysfunctional voiding, or dysfunctional elimination may be affected by the same congenital disorder of neurological origin.

Molecular identification of ancient and modern mammalian magnesium transporters

“…Human ACDP1 has been linked to an inheritable disease termed urofacial syndrome (UFS) or Ochoa syndrome (103,164,165). UFS is a rare but ethnically widely distributed disorder inherited as an autosomal-recessive trait.…”

“…Subjects present with congenital obstructive uropathy due to a neurogenic bladder and a paradoxical inversion of the facial expressions when they attempt to smile or cry (102). Ochoa (103) postulated that the location of the laughing and crying centers in the upper pons of the midbrain close to the micturition center may explain the connection between the facial and urinary abnormalities. This would suggest that ACDP1 may be important in this area of the brain.…”

Chronic Kidney Disease in a Boy with Enuresis: The Diagnosis Behind the Smile

“…Cases with UFS usually have urgency, urge incontinence, enuresis, recurrent urinary tract infections due to dysfunctional bladder and residual urine in addition to dysfunctional elimination findings including constipation and encopresis (4,5,13). The interesting point in our patient was that although he had severe pathological urinary tract features leading to chronic renal failure, he had no complaints other than enuresis.…”

“…Facial expression is normal at rest, the patient has grimacing when attempted to smile and has no suffering expression but normal facial expression while crying (5). It has been hypothesized that this genetic disorder causes a simultaneous effect both in "laughing and crying centers" and the "micturition center", which have close proximity in upper pons (5). Some others proposed that two separate lesions affecting facial nerve nucleus and sacral cord motor nuclei innervating the external sphincter were responsible (6).…”

Ochoa Syndrome—A Twins Case Report

“…This clinical association is known as the Urofacial Syndrome (UFS), or, in regard to its first de-scriber, as the Ochoa Syndrome. More than 100 cases have been reported in the last 50 years all around the globe [3], but none from Brazil. The UFS is a rare autossomal recessive disorder that occurs equally in both sexes but seems to be more frequent when parents are consanguineously related, and a mutation in the Heparanase gene (HPSE2), located on chromosome 10q24 is the cause of this disease [4].…”