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Saudi Journal of Kidney Diseases and Transplantation
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CASE REPORT Table of Contents   
Year : 2003  |  Volume : 14  |  Issue : 1  |  Page : 61-64
Ochoa Syndrome: New Features

Department of Pediatrics, College of Medicine, King Faisal University, Dhahran, Saudi Arabia

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How to cite this article:
Al-Qahtani FN. Ochoa Syndrome: New Features. Saudi J Kidney Dis Transpl 2003;14:61-4

How to cite this URL:
Al-Qahtani FN. Ochoa Syndrome: New Features. Saudi J Kidney Dis Transpl [serial online] 2003 [cited 2022 Aug 7];14:61-4. Available from: https://www.sjkdt.org/text.asp?2003/14/1/61/33089

   Introduction Top

Ochoa syndrome is a rare autosomal recessive disease characterized by congenital obstructive uropathy and abnormal facial expression. [1],[2],[3] The presence of the latter allows early recognition and urologic evaluation with institution of prophylactic measures thereby preventing further damage to the upper urinary tract.

We herewith report three Saudi siblings presenting with inverted facial expression, voiding dysfunction, and variable degrees of renal insufficiency with the presence of variable pathology in gall bladder.

   Case Report Top

The index case is a 5-year-old Saudi girl, born to consanguineous parents, with two elder sisters (9 and 16 years old) both having reflux nephropathy. She presented to us with progressive lethargy, vomiting, fever and urinary retention. There was no history of recurrent abdominal pain or fatty meal intolerance. The family tree of the study patient is indicated in [Figure - 1].

Physical examination revealed inverted facial expression with grimacing while smiling [Figure - 2], blood pressure of 110/78 mm Hg, weight 13.5 kg, and height 90 cm, both being below fifth percentile for age. The abdomen was soft, there was no hepatosple­nomegaly and the urinary bladder was felt at the level of the umbilicus. There was no hair tuft or bony defect over lower back; deep tendon reflexes were normal.

Laboratory investigations were as follows: blood urea: 10 mmol/L (normal range: 1.8­6.4), creatinine 214 µmol/L (27-62), sodium 134 mmol/L, potassium 5.3 mmol/L, chloride 104 mmol/L, venous blood gas: pH 7.35, PCO 2 38 Torr, PO2 26 Torr, bicarbonate 16.6 mmol/L, base deficit 9.4; total bilirubin 5 µmol/L, total protein 80 g/L (60-80), albumin 34 g/L, alkaline phosphatase 225 U/L, alanine aminotransferase 27 U/L (20-65), aspartate aminotransferase 30 U/L (20-65), gamma­glutamyl transferase 9 U/L (5-55), cholesterol 4.4 mmol/L (<5.2 mmol/L), white blood cell (WBC) count 8.1 x 10 9 /L, hemoglobin 100 g/L with normal differential and reticulocyte count 1.7%. Peripheral blood film for red blood cell (RBC) morphology showed only slight aniso­cytosis with hypochromia. Urinalysis showed: nitrite negative, WBC 2000/HPF and urine culture grew E-coli >100,000 colonies/ml.

The abdominal sonogram [Figure - 3]A,B showed the presence of multiple intra­luminal echodensities with posterior acoustic shadow within the gall bladder suggestive of gallstones. Each of the patient's siblings had septated gallbladder. All three siblings had severe bilateral hydronephrosis and hydro­ureter and thin renal parenchyma. Voiding cystourethrography [Figure - 4] revealed severely trabeculated bladder with bilateral high grade vesicoureteric reflux (VUR). Cystometry was not conclusive because of the presence of high grade VUR; lumbosacral magnetic resonance imaging (MRI) showed normal anatomy of the spinal cord and vertebrae.

   Discussion Top

Ochoa syndrome is a urofacial syndrome which is characterized by severe voiding dysfunction and peculiar facies, i.e., inversion of facial expression with grimacing while smiling or crying. [1],[2],[3]

The relationship between inversion of facial expression and bladder dysfunction awaits clarification. It is hypothesized that normal micturation is a brainstem reflex centered in the reticular formation in close anatomical proximity to the origin of facial nerves and a lesion in this area may, therefore, affect several organ systems. [4]

It is a rare autosomal recessive disorder initially described in 1965. [2] Since then, more than 50 cases have been reported from 32 families, with more than one child affected in ten families. [4] Recently, mapping of the urofacial syndrome gene has been made to a 1­cM interval on chromosome 10q23-q24. [5]

Reports of patients from the Arabian peninsula are rare probably due to lack of awareness among the pediatricians. [6],[7]

Characteristic features include diurnal or nocturnal enuresis, urinary tract infection, hypertension and renal insufficiency due to non-neurogenic-neurogenic bladder with unilateral or bilateral VUR. [4] All these findings were demonstrated clearly in our patients. Additionally, variable gallbladder pathology in the form of gallstones and septate gall bladder has also been described. [4]

The simultaneous involvement of three separate organs such as facial muscle, gall­bladder, and urinary bladder is not entirely an unreasonable concept. Knowledge of normal morphogenesis may assist in the interpre­tation of structural defects. Each anomaly must have a logical mode of development and a cause.

The genetic information that guides the morphogenesis and function of an individual is all contained within the zygote. After the first few cell divisions, the differentiations begin to take place, presumably through activation or inactivation of particular genes, allowing cells to assume diverse roles. The entire process is programmed in a timely and sequential order with little allowance for error, especially in early morphogenesis.

Early in the first trimester, a series of paired swellings appear on either side of the midline in the future head and neck region. These branchial arches support the cranial foregut. They are covered by ectoderm externally, fore gut endoderm and have a core of mesoderm which forms skeletal muscles and connective tissue of the head and neck region. The skeletal muscles of the rest of the body come from myotomes which were originally on the dorsal aspect of the fetus. Similarly, at the same developmental period, the liver, gallbladder and urogenital sinus evolve as an endodermal outgrowth from the cranial foregut with later formation of gallbladder, urinary bladder and ureter. [8]

Early recognition of the Ochoa syndrome is very important and is possible through simple physical examination, by evaluating facial expressions since early infancy. This will allow us to detect urinary tract anomalies early and thus prevent further damage to the kidneys with ultimate development of chronic renal failure.

   References Top

1.Elejalde BR. Genetic and diagnostic consi­deration in three families with abnormalities of facial expression and congenital urinary obstruction: The Ochoa syndrome. Am J Med Genet 1979;3:97-108.  Back to cited text no. 1  [PUBMED]  
2.Ochoa B, Gorlin RJ. Urofacial (Ochoa) syndrome. Am J Med Genet 1987;27:661-7.  Back to cited text no. 2  [PUBMED]  
3.Ochoa B. The urofacial (Ochoa) syndrome revisited. J Urol 1992;148:580-3.  Back to cited text no. 3  [PUBMED]  
4.Homsy YL. Dysfunctional voiding syndromes and vesicoureteral reflux. Pediatr Nephrol 1994; 8:116-21.  Back to cited text no. 4  [PUBMED]  
5.Wang CY, Hawkins Lee B, Ochod B, Walker RD, She Jx. Homozygosity and linkage-dis­equilibrium mapping of the urofacial (Ochoa) syndrome gene to a 1-cM interval on chromo­some 10q23-q24. Am J Hum Genet 1997; 60:1461-7.  Back to cited text no. 5    
6.Teebi AS, Farag TI, el-khalifa MY, Besisso MS, al-Ansari AG. Urofacial syndrome. Am J Med Genet 1989;34:608.  Back to cited text no. 6  [PUBMED]  
7.Teebi AS, Hassoon MM. Urofacial syndrome associated with hydrocephalus due to aqu­eductal stenosis. Am J Med Genet 1991; 40:199-200.  Back to cited text no. 7  [PUBMED]  
8.England MA. A color atlas of life before birth normal fetal development. Wolfe Medical Publications Ltd., 1990;94(128):154-200.  Back to cited text no. 8    

Correspondence Address:
Fakherah N Al-Qahtani
Department of Pediatrics, College of Medicine, King Faisal University, P.O. Box 191, Dhahran 31932
Saudi Arabia
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Source of Support: None, Conflict of Interest: None

PMID: 17657091

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  [Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4]


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