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| Year : 2012 | Volume
: 23
| Issue : 2 | Page : 346-348 |
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| Urofacial syndrome |
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Kamal F Akl1, Hashem M Al Momany2
1 Department of Pediatrics, Faculty of Medicine, Jordan University Hospital, Amman, Jordan
2 Department of Pediatric Surgery, Faculty of Medicine, Jordan University Hospital, Amman, Jordan
Click here for correspondence address and email
| Date of Web Publication | 28-Feb-2012 |
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 Abstract | | |
The urofacial syndrome is characterized by functional obstructive uropathy associated with an inverted smile. The importance of the subject is that it sheds light, not only on the muscles of facial expression, but also on the inheritance of voiding disorders and lower urinary tract malformations. We report a 10-year-old-male patient who had the urofacial syndrome. Early diagnosis of the urofacial syndrome is important to avoid upper urinary tract damage and renal failure.
How to cite this article:
Akl KF, Al Momany HM. Urofacial syndrome. Saudi J Kidney Dis Transpl 2012;23:346-8 |
| Introduction | |  |
The urofacial syndrome is characterized by functional obstructive uropathy associated with an inverted smile. [1] These patients are at risk of developing renal failure. The importance of the subject is that it sheds light, not only on the muscles of facial expression, but also on the inheritance of voiding disorders and lower urinary tract malformations. [2]
Herein, we report the first case of this syndrome from Jordan and the third from the Arab countries. [3],[4],[5]
| Case Report | | |
A 12-year-old-male, who presented at the age of one year with urinary tract infection (UTI), was found to have bilateral hydrouretero-nephrosis secondary to bilateral grade-4/5 vesicoureteral reflux (VUR). Since infancy, the patient had a peculiar smile, similar to a paternal aunt, who did not have any urological anomalies. The parents were not consanguineous. Physical examination revealed normal blood pressure with no neurological abnormalities. The patient had intact perineal and peri-anal sensation, with normal motor function and deep tendon reflexes. However, whenever he tried to laugh or smile, it looked like he was crying [Figure 1]a and b. | Figure 1a: Clinical photograph of the patient before smiling.
Figure 1b: Clinical photograph of the patient while smiling.
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Magnetic resonance imaging of the lumbo-sacral spine was normal; urodynamic study revealed a neurogenic bladder. He was diagnosed as having non-neurogenic neurogenic bladder (NNNB). A renal ultrasound revealed severe right-sided hydronephrosis with thinning of the cortex.
At the age of 10 years, the patient's hemoglobin was 11.5 g/dL, serum creatinine was 0.77 mg/dL, and the estimated glomerular filtration rate (eGFR) was 190 mL/1.73 m [2] /24 hours.
Micturating cystourethrogram showed a tra-beculated bladder, with numerous diverticulae, and grade-5 right VUR; urodynamics showed a low compliance bladder with prolonged and intermittent voiding phase, associated with detrussor hyper-reflexia. The patient could not tolerate a volume of even 110 mL. Postvoid residual urine was 340 mL. A technetium-99m-mercaptoacetyltriglycine ( 99m Tc-MAG 3 ) renal scan showed markedly reduced parenchymal uptake in the right kidney with no evidence of excretory phase, suggesting an almost non-functioning right kidney. Split renal function showed 1.5% function on the right side and 98.5% function on the left side.
The patient had recurrent UTIs (usually pyelonephritis) with bilateral flank/suprapubic pain, urgency, and day and night incontinence. He was maintained on nitrofurantoin prophylaxis, oxybutinin, and desmopressin. The patient had habitual constipation. At the age of 12 years, he had acute scrotal pain. A gangrenous cyst of morgani was resected.
| Discussion | | |
The purpose of this article was to report the rare syndrome of neurogenic bladder associated with an abnormal smile. [1] The importance of the subject is that it sheds light, not only on the muscles of facial expression, but also on the inheritance of voiding disorders and lower urinary tract malformations. [2] When neurogenic bladder occurs in the absence of an overt neurological deficit, it is labeled as occult neuropathic bladder or NNNB. However, the occurrence of NNNB in infants is rare. [6],[7]
While lower urological abnormalities are common in children, the urofacial or Ochoa syndrome is rare. The symptoms of lower urinary tract dysfunction (LUTD) include incontinence, recurrent UTIs, constipation, and VUR. [8],[9]
Ochoa or urofacial syndrome consists of a characteristic facial grimace (when smiling or laughing, patient looks like he/she is crying) associated with obstructive uropathy in the absence of mechanical obstruction, or apparent neurological abnormalities. 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 reti-cular formation in the brain stem. [1],[10],[11]
The urofacial syndrome is associated with high-grade VUR, which leads to upper urinary tract damage and renal failure. One-third of patients have constipation. [2] Our patient had symptoms of LUTD, associated with NNNB, renal damage, constipation, and an abnormal smile. The above-mentioned findings fit with the diagnosis of urofacial syndrome. [1] Two cases of the urofacial syndrome were reported from Kuwait [3],[4] and one from Saudi Arabia. [5] To our knowledge, our case is the first from Jordan.
The urofacial syndrome is inherited in an autosomal recessive manner. It is due to homo-zygous or compound heterozygous mutation with loss of function of the Heparanase 2 (HPSE2) gene located on chromosome 10q23-q24. [12] Some family members of patients with the urofacial syndrome have the characteristic facial grimace, with or without the associated obstructive uropathy. In our patient, there was a positive family history of the facial grimace without mention of any overt urological anomaly.
The urofacial syndrome was previously included under NNNB or Hinmann syndrome. [13] Whereas Hinmann syndrome was attributed to behavioral problems, emerging evidence points to an inherited defect in the central nervous system and urinary bladder communications. [14]
The importance of diagnosing the urofacial syndrome lies in the fact that besides the facial expression abnormality, it sheds light on the inheritance of urological anomalies such as the NNNB. Early diagnosis of the urofacial syndrome is important to avoid upper urinary tract damage and renal failure.
| References | | |
| 1. | Ochoa B. Can a congenital dysfunctional bladder be diagnosed from a smile? The Ochoa syndrome updated. Pediatr Nephrol 2004;19 (1):6-12. 
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| 2. | Daly SB, Urquhart JE, Hilton E, et al. Mutations in HPSE2 cause urofacial syndrome. Am J Med Genet 2010;86(6):963-9.
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| 3. | Teebi AS, Farag TI, el-Khalifa MY, Besisso MS, al-Ansari AG. Urofacial syndrome. Am J Med Genet 1989;34(4):608.
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| 4. | Teebi AS, Hassoon MM. Urofacial syndrome associated with hydrocephalus due to aque-ductal stenosis. Am J Med Genet 1991;40(2): 199-200.
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| 5. | Al Badr W, Al Badr S, Otto E, et al. Exome capture and massively parallel sequencing identifies a novel HPSE2 mutation in a Saudi Arabian child with Ochoa syndrome. J Pediatr Urol 2011;7:569-73.
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| 6. | Al Mosawi AJ. Identification of nonneurogenic neurogenic bladder in infants. Urology 2007; 70(2):355-6.
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| 7. | Jayanthi VR, Khoury AE, McLorie GA, et al. The non-neurogenic neurogenic bladder of early infancy. J Urol 1997;158(3Pt2):1281-5.
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| 8. | Rushton HG. Wetting and functional voiding symptoms in children. Urol Clin North Am 1995;22:75-93.
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| 9. | Farhat W, Bagli D, Capolicchio G, et al. The dysfunctional voiding scoring system: quail-tative standardization of dysfunctional voiding symptoms in children. J Urol 2000;164:1011.
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| 10. | Bauer SB. Special considerations of the over-active bladder in children. Urology 2002;60 (Suppl 5A):43-8.
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| 11. | Sugaya K, Nishijima S, Miyazato M, Ogawa Y. Central nervous control of micturition and urine storage. J Smooth Muscle Res 2005;41: 117-132.
[PUBMED] [FULLTEXT] |
| 12. | Pang J, Zhang S, Yang P, et al. Loss-of-function mutations in HPSE2 cause the auto-somal recessive urofacial syndrome. Am J Hum Genet 2010 Jun2 [Epub ahead of print].
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| 13. | Hinman F. Nonneurogenic neurogenic bladder (the Hinman syndrome )- 15 years later. J Urol 1986;136:769-77.
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| 14. | Ballek NK, McKenna PH. Lower urinary tract dysfunction in childhood. Urol Clin N Am 2010;37(2):215-28.
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Correspondence Address:
Kamal F Akl
Associate Professor, Jordan University Hospital, Faculty of Medicine University of Jordan, P.O. Box 831373, Amman 11183
Jordan
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PMID: 22382233 
[Figure 1] |
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| This article has been cited by | | 1 |
Scintigraphy in Ochoa syndrome |
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