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Saudi Journal of Kidney Diseases and Transplantation
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Year : 2012  |  Volume : 23  |  Issue : 3  |  Page : 590-591
Wernestrup's syndrome or VACTERL variant

Assistant Professor of Pediatric Nephrology, Tabriz University (Medical Sciences), Tabriz, Iran

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Date of Web Publication7-May-2012

How to cite this article:
Malaki M. Wernestrup's syndrome or VACTERL variant. Saudi J Kidney Dis Transpl 2012;23:590-1

How to cite this URL:
Malaki M. Wernestrup's syndrome or VACTERL variant. Saudi J Kidney Dis Transpl [serial online] 2012 [cited 2020 Nov 25];23:590-1. Available from: https://www.sjkdt.org/text.asp?2012/23/3/590/95848
To the Editor,

Ambiguous genitalia categorization in neonate is sometimes difficult for physicians, although most of this disorder is related to 21 hydroxylase deficiency. [1] Sometimes, ambiguous genitalia may occur with urologic anomaly, [2] des­cribed as Richard Wernestrup's syndrome. Richard Wernestrup introduced four cases in 1985 of neonates who were female pseudohermaphroditic with anal imperforation, renal agenesis and other anomalies that were not common to all patients. [3]

A neonate presented to our hospital with ambi­guous genitalia including microphallus, empty scrotum, bilateral inguinal hernias and small urethra opened in the distal part of the phallus. The patient was referred for correction of imperforated anus and ruling out of congenital adrenal hyperplasia as a cause of ambiguous genitalia. Her imperforated anus that was in low position was corrected surgically in one stage without the need for colostomy or laparotomy and, during exploration of the hernias, we did not find the testes. The skeletal abnormalities included a clubbed left foot. The cardiac exam disclosed a systolic murmur without symptoms and echocardiography revealed multiple ano­malies including atrial septal defect, large ven­tricular septal defect in both the muscular part in the apical position that stretched to the mem­branous site as long as the distal aorta as well as patent ductus arteriosus, and hypertension of the pulmonary artery and the left arched aorta.

Renal sonography during an episode of urinary tract infection in the first month of life revealed an absent right kidney, and left kidney size was 4.6 cm (normal for gestational age). Her persis­tent uremia and low glomerular filtration rate of 35 mL/min/1.73 m 2 (normal 54 ± 8 mL/min/ 1.73 m 2 up to the second week of life) was remarkable during treatment until discharge.

The association of imperforated anus and urological abnormality is not a rare phenomenon, because 14% of anal imperforated cases is asso­ciated with upper urinary tract dysgenesis. [4]

None of Wernestrup's four cases had full cha­racteristics of VACTERL syndrome that consis­ted of vertebral defect, anal stenosis, tracheoesophageal fistula, radial dysplasia and cardiac anomalies. [5] However cardiac and unilateral renal agenesis has been well described formerly for VACTERL. [6]

The association of ambiguous genitalia system with urinary tract disorder like dysplastic kid­ney and vesicoureteral reflux is a known pheno­menon referred to disturbances of differentia­tion of lower urogenital system, [7],[8] as presented in our case.

The renal problems of the Wernestrup's syn­drome include bilateral renal agenesis or dysplasia. [9],[10],[11] In our case, there was unilateral renal agenesis, but persistent increase of urea and creatinine and low GFR. Tc99 DTPA scan sug­gested dysplasia in the remaining kidney.

Although association of unilateral renal agene­sis and hydroureter and hydronephrosis are well known components of the VACTERL syndrome, [12] the hydronephrosis in our case was due to high-grade reflux in the remaining kidney.

The most different feature of our case in contrast to Wernestrup's syndrome is the pre­sence of cardiac defects. Furthermore, the ske­letal abnormalities in our case included only clubbed left foot, while the Wernestrup's syn­drome included absent thumb or radius. [9],[10] The renal and the extrarenal problems may make our case closer to the VACTERL syndrome than the Wernestrup's syndrome. However, tracheoesophageal and vertebral anomalies were not pre­sent in our case to be labeled as the VACTERL syndrome. Finally, the patients with Wernestrup's syndrome did not survive for long due to respiratory distress, but our case remained alive under control by medical therapy until the ninth month at the time of writing this report.

Wernestrup syndrome can be classified as a variation of VACTERL syndrome.

   References Top

1.Zdravcovic D, Milonkovic T. Causes of ambi­guous external genitalia in neonates. Srp Arh Celok Lek 2001;129:57-60.  Back to cited text no. 1
2.Salvatore C, S Paran, Prem P. Associate ano­malies in children with unilateral renal agenesis. J Urol 1999;162:1081-3.  Back to cited text no. 2
3.Richard J, Wernestrup MD, Roberta A. Female pseudohermaphroditism with anorectal mullerian duct, and urinary tract, malformations: Report of four cases. J Pediatr 1985:107:751-4.  Back to cited text no. 3
4.Mclorie GA, Sheldon CA, Fleisher M. The genitourinary system in patients with imperforated anus. J Pediatr Surg 1998;22:1100-4.  Back to cited text no. 4
5.Gilbert-Barness EF, Opitz JM., Barness LA. Heritable malformations of the kidney and urinary tract. In Inheritance of Kidney and Uri­nary Tract Diseases. In: Spitzer A, Avner ED, Eds. Boston: Kluwer Academic Publishers; 1989.  Back to cited text no. 5
6.Robson WL, Leung AK, Rogers RC. Unilateral renal agenesis. Adv Ped 1995;42:575-92.  Back to cited text no. 6
7.Macarthur M, Mahomed A. Rare association of female pseudo-hermaphroditism, phallic urethra, and posterior cloaca. J Pediatr Surg 2006;41: 576-9.  Back to cited text no. 7
8.Lubinsky MS, Opitz JM. Female pseudohermophroditism and associated anomaly. Am J Med Genet 1980;6:123-36.  Back to cited text no. 8
9.Carpentier PJ, Potter EL. Nuclear sex and genital malformations in 48 cases of renal agenesis with especial reference to nonspecific female pseudo- hermaphroditism. Am J Obestet Gynecol 1959;78:235-58.  Back to cited text no. 9
10.Schelegel RJ, Aspillaga MJ, Neu RL. An XX sex chromosome complement in an infant having male type External genitals, renal agenesis and other anomalies. J Pediatr 1966;69:812-4.  Back to cited text no. 10
11.Dubowitz V. Virilisation and malformation of a female infant. Lancet 1962;2:405-6.  Back to cited text no. 11
12.Limwongse C, Cassidy SB. Syndromes and Malformations of the Urinary Tract, in: Avner Ellis D (ed): Pediatric Nephrology, 5 th ed, Phila­delphia: Lippincott Williams & Wilkins; 2004; 93-121.  Back to cited text no. 12

Correspondence Address:
Majid Malaki
Assistant Professor of Pediatric Nephrology, Tabriz University (Medical Sciences), Tabriz
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