Ochoa Syndrome

Ochoa syndrome is characterized by the association of severe voiding dysfunction and a characteristic facial expression.

Epidemiology

Over 100 patients have been described so far.

Clinical description

Patients with Ochoa syndrome present with incontinence, urinary tract infection and hydronephrosis. Voiding dysfunction is the result of an obstructive uropathy. About two-thirds of the patients have moderate to severe constipation. Cryptorchidism has also been reported. The peculiar facial dysmorphism is related to an unusual inversion of facial expression that occurs when the child smiles or cries.

Etiology

A potential gene has been mapped to chromosome 10q23-q24.

Diagnostic methods

Diagnosis may be suspected following recognition of the peculiar facial expression during infancy. Ultrasonography, renal scan, voiding cystourethrogram and urodynamics can be used to evaluate the lower urinary tract dysfunction.

Genetic counseling

The syndrome is inherited as an autosomal recessive trait.

Management and treatment

Treatment is symptomatic and involves bladder re-education, antibiotic prophylaxis, anticholinergic therapy and alpha-blockers. Intermittent catheterization may be needed. Constipation should be treated. Early diagnosis and treatment are essential in order to prevent upper urinary tract deterioration and renal failure.