Urofacial syndrome, or Ochoa syndrome, is an autosomal recessive congenital disorder which is characterized by an association of a lower urinary tract and bowel dysfunction with a typical facial expression. When attempting to smile, the patient seems to be crying or grimacing. The inverted facial expression presented by children with this syndrome allows for early detection of the syndrome, which is vital for establishing a better prognosis as urinary related problems associated with this disease can cause harm if left untreated. Incontinence is another easily detectable symptom of the syndrome that is due to detrusor-sphincter discoordination.
SIGNS AND SYMPTOMS
Infants with the disorder exhibit an inverted smile; they appear to be crying when they are actually smiling, in conjunction with uropathy.
They also may be affected by hydronephrosis.
Symptoms of this disease can start at very young ages. Many people with this syndrome will die in their teens to early 20s because of the renal failure (uropathy) if not diagnosed and treated.
Children with the syndrome have abnormal facial development that cause an inverted smile, nerve connections are however normal. When attempting to smile, the child will appear to cry.
Urinary problems arise as a result of a neurogenic bladder. Most patients older than the age of toilet training, present with enuresis, urinary-tract infection, hydronephrosis, and a spectrum of radiological abnormalities typical of obstructive or neurogenic bladders.
Radiological abnormalities include things such as: trabeculated bladder, vesicoureteral reflex, external sphincter spasm, pyelonephritis, hyperreflexic bladder, noninhibited detrusor contraction, etc. Urinary abnormalities might result in renal deterioration and failure. This can be prevented by taking proper measures to restore normal micturition. In some cases, the affected patients become hypertensive and progress to end-stage renal disease, while others become uremic. Additionally, most patients suffer from constipation. Early detection of this syndrome is possible through the peculiar faces that children present.
PLUMBUM MET : Pale, ash-colored, yellow, corpse-like, cheeks sunken; expressive of great anxiety and suffering. Skin of face, greasy, shiny. Retention of urine. Difficult emission of urine, only drop by drop, dark coloured, scanty, albuminous. Tenesmus of bladder. More frequent and more copious emission of urine. All the symptoms of acute nephritis; with amaurosis and cerebral symptoms.
CINA: Frequent want to make water, with profuse discharge. Wetting the bed. Urine soon becomes turbid. Involuntary emission of urine (at night). Urine milky. Cramp-like pains and successive pullings in the cheek-bones, aggravated or renewed by contact and pressure.
CHAMOMILA: Convulsive movements of the muscles of the face and of the lips. Inclination to make water, with anxiety. On making water, itching and burning in the urethra. Urine hot and yellowish, with fleecy sediment; or turbid urine, with yellowish sediment. Involuntary or feeble emission of urine.