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CASE REPORT
Year : 2003  |  Volume : 19  |  Issue : 2  |  Page : 167-169
 

Goldenhar syndrome and urogenital abnormalities


Department of Paediatric Surgery, Kasturba Medical College, Manipal, India

Correspondence Address:
Anindya Chattopadhyay
Department of Paediaric Surgery, Kasturba Medical College, Manipal - 576 119
India
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Source of Support: None, Conflict of Interest: None


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   Abstract 

The Goldenhar syndrome (oculo-auriculo-vertebral syn­drome or 1st and 2nd branchial arch syndrome) is a com­plex of craniofacial anomalies. It has been associated with anomalies in other systems and with abnormalities of the urogenital system. We present a case of Goldenhar syn­drome with multiple renal anomalies and a urogenital si­nus, which has not been reported before.


Keywords: Goldenhar syndrome, urogenital anomalies.


How to cite this article:
Marulaiah M, Chattopadhyay A, Vijaykumar, Rao P. Goldenhar syndrome and urogenital abnormalities. Indian J Urol 2003;19:167-9

How to cite this URL:
Marulaiah M, Chattopadhyay A, Vijaykumar, Rao P. Goldenhar syndrome and urogenital abnormalities. Indian J Urol [serial online] 2003 [cited 2019 Jan 22];19:167-9. Available from: http://www.indianjurol.com/text.asp?2003/19/2/167/37157



   Case Report Top


A 10-year-old girl presented to us with complaints of incontinence of urine and inability to feel bladder sensa­tion. She was born with multiple anomalies that included macrostomia, pre-auricular skin tags, bilateral mandibu­lar hypoplasia and limbal dermoid [Figure - 1]. She was operated for macrostomia and pre-auricular skin tags but at that time no urological evaluation was done. On exami­nation she had dextrocardia. The girl had the urethral open­ing on the anterior vaginal wall just proximal to hyrnenal mucosal tags and the anus was normal. There was no ob­vious neurological deficit and the spine was normal. On evaluation she had a large smooth-walled bladder with grade 5 VUR on the left side [Figure - 2] with gross hydroureteronephrosis and non-functioning left kidney. The right kidney was ectopic and present in the midline at the level of L3 vertebra. Left nephroureterectomy was done during which patient was noticed to have malrotation with­out Ladd's bands. Urodynamic evaluation showed the patient had a hypotonic, hyporeflexic large capacity blad­der. She underwent a meatoplasty of urethral orifice at a second sitting to enable her to perform clean intermittent catheterization (CIC). Patient is now on a regime of CIC and prophylactic antibiotics.


   Comments Top


Goldenhar syndrome is a complex of craniofacial anomalies associated with vertebral, cardiac, neural, pul­monary and genitourinary anomalies. [1] Although not well reported, up to 70% of cases have urogenital anomalies that include fused kidneys, renal agenesis, VUR, UPJ ob­struction, ureteral duplication, multicystic kidney and ret­rocaval ureter. [2],[3] Our patient had a right ectopic kidney with left grade 5 VUR and hydroureteronephrosis. She also had a hypotonic, large capacity bladder with a uro­genital sinus, which has not been reported earlier in association with Goldenhar syndrome. Any patient with Goldenhar syndrome should be evaluated early for urological abnormalities and treated promptly for prob­lems to avoid further complications.

 
   References Top

1.Smith DW. Facio-auriculo-vertebral spectrum. In : Recognizable patterns of human malformation. Genetic, embryologic and clini­cal aspects. Philadelphia. WB Saunders 1982; 497-500.  Back to cited text no. 1    
2.Ritchey ML, Nurheck J, Huang C. Keating MA, Bloom DA. Urological manifestations of Goldenhar syndrome. Urology 1994: 43: 88-9.  Back to cited text no. 2    
3.lshitoya S. Arai Y, Waki K. Okubo K, Suzuki Y. Left retrocaval ureter associated with the Goldenhar syndrome (Branchial arch syn­drome). J Urol 1997; 158: 572-3.  Back to cited text no. 3    


    Figures

  [Figure - 1], [Figure - 2]



 

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