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Wenstrup syndrome: An unusual presentation of a rare condition

Shazia Sharif, Martyn Williams, Daniel Carroll
Department of Paediatric Surgery, Addenbrooke’s Hospital Cambridge, United Kingdom

 

Correspondence

Shazia Sharif
Specialist Registrar in Paediatric Surgery
Department of Paediatric Surgery
Addenbrooke’s Hospital, Hills Road
Cambridge CB2 0QQ, United Kingdom
Telephone: 01223 245151 (bleep 154-531), 07793060416
Fax Number: 01223 596367
Email: This email address is being protected from spambots. You need JavaScript enabled to view it.

 

Abstract

This case discusses the presentation and progress of a patient with both partial Uro-Rectal Septum Malformation Sequence (URSMS) and the VACTERL association. The very unusual combination of a tracheo-oesophageal fistula and a partial URSMS has resulted in the absence of classical ante-natal signs. In addition, she has a significant number of other abnormalities which has led us to believe that she has Wenstrup syndrome.

Key words: Wenstrup syndrome, URSMS, partial URSMS, VACTERL

 

Case report

This case was first highlighted at the mother’s 20 week antenatal scan which demonstrated a right multi-cystic kidney and a left abdominal cyst. A subsequent scan at 28 weeks showed the right kidney was 44 x 28.6 mm and the left abdominal cyst 44 x 60 mm; these were associated with slightly reduced level of amniotic fluid. The level of amniotic fluid was re-checked at 32 weeks and this was normal.

The infant was born at 36+3 gestation by normal vaginal delivery. Labour began by spontaneous rupture of membranes and was complicated by significant placental abruption with ante-partum haemorrhage. The infant had good Apgar scores (6 and 10); and a birth weight of 2180g. Initial post-natal assessment demonstrated a number of abnormalities including oesophageal atresia, ambiguous genitalia, an anteriorly placed anus and bilateral rudimentary thumbs. The infant was stabilised and transferred to a tertiary paediatric surgery unit.

On Day 2 of life the patient underwent surgery for oesophageal atresia with distal tracheo-oesophageal fistula. A primary end-to-end anastomosis was formed with a trans-anastomotic tube left in-situ (Fig. 1). Examination under anaesthesia of the genitalia demonstrated a phallic-shaped structure which was felt to be skin that was distended with urine. There was an opening at the tip of the phallic structure which, when dilated, passed urine. A further two separate openings were seen on the perineum: one was blind ending, the other accepted a small probe but it was not possible to pass a cystoscope due to the small size of the opening. There was a separate patent anterior anus.

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Figure 1: primary end-to-end anastomosis with a trans-anastomotic tube left in-situ

Concurrent plastic surgery resulted in amputation of both rudimentary thumbs as radiography showed no evidence of bone in either of these structures. The infant was ventilated and paralyzed until day 7 and then weaned onto CPAP; at this time feeds were instituted via the TAT with no concerns. Concurrent investigations focused on other abnormalities, in particular the anatomy and function of the genito-urinary system. An ultrasound on initial transfer demonstrated a right multi-cystic kidney measuring 58 x 32 mm. No normal cortex was seen around the right kidney and there was no identifiable right ureter. The left kidney and bladder were not visualised. A well-defined cyst in the left flank measured 30 x 22 mm. Three days later a repeat ultrasound demonstrated an obstructed horseshoe kidney, where the right kidney was 46 mm and the left was 22 mm with very little normal cortex. There was a dilated tortuous ureter (9mm) extending from the midline of the renal structure into the pelvis; no definite normal bladder or uterus could be identified. There is also a 15 x 16 x 32 mm round soft tissue nodule abutting the cystic left kidney. This may represent normal renal tissue with loss of cortico-medullary differentiation or possibly a renal tumour.

The potential impact of a renal tumour on the clinical management and prognosis warranted an urgent MRI. In view of renal failure the scan was performed without contrast. This scan demonstrated a right multi-cystic dysplastic kidney with no definite connection to left kidney although resolution was noted to be relatively reduced compared to ultrasound. A small left kidney with some remaining renal cortex was also associated with parenchymal cysts (Fig. 2). An apparent left ureter extended into the pelvis to a fluid filled midline structure which may be a urogenital sinus or bladder. There was no definite uterus, ovaries or testes identified. A separate rectum was demonstrated.

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Figure 2: MRI showing right multi-cystic dysplastic kidney, a small left kidney with some remaining renal cortex, associated with parenchymal cysts

Renal failure was apparent from day 1 this demonstrated an initial creatinine of 177 (normal range 60 – 110) with hyponatraemia and hyperkalaemia. The patient spontaneously passed urine on day 2 and had no further problems with retaining urine. The urine was noted to be a very dilute. Serum creatinine rose to 428 on day 7 of life and then gradually decreased to and reached a plateau of 220-230. The patient was commenced on prophylactic (trimethoprim) antibiotics.

Other investigations included an echocardiogram which demonstrated a dysplastic pulmonary valve and pulmonary stenosis. Ventricular hypertrophy and a small PDA and PFO were also present. Although no clinically significant cardiovascular problems were apparent the baby was borderline hypertensive secondary to chronic renal failure. In addition to the bilateral rudimentary thumbs and a right radial club hand a number of additional skeletal abnormalities were identified. Multiple hemivertebrae were present in both the thoracic and lumbar spine associated with bifid ribs. An MRI Spine demonstrated an abnormal sacrum with reversal of the sacral kyphosis. No definite dysraphic defect was seen. MRI of the Head was apparently normal.

FISH studies showed XX karyotype with no SRY signal and the baby was assigned a female gender on day 5 of life and named as such. Metabolic and endocrine tests to date are unremarkable. A clinical genetic review also proposed a differential diagnosis of Fanconi anaemia.

The further multi-disciplinary management of this baby has been discussed extensively. Discussion with a paediatric nephrologist at a tertiary centre enabled us to formulate a short-to mid-term plan. The baby will be managed conservatively as she is showing steady improvement in renal function with postnatal maturation. There is the potential for her to be managed without peritoneal dialysis. She may not be a candidate for renal transplant due to anatomical concerns regarding the urogenital tract. Repeat imaging when she is older may be able to delineate her anatomy more clearly and this may change her clinical course.

Discussion

Uro-rectal septum malformation sequence (URSMS) is defined as a lack of perineal (anal, urinary and vaginal) openings. The majority of cases have ambiguous genitalia as well as abnormalities of the bladder, kidneys, and lower spine. The URSM sequence was first described in 6 cases by Escobar et al. [1] in 1987. A decade later they went on to report thirteen additional cases [2].

A milder form of this sequence is termed partial URSMS [3]. It has many of the same features as the full URSMS except there is an opening in the perineal area. In some reported cases of the URSMS other abnormalities have been identified including abnormalities of heart, trachea, oesophagus, internal genitalia, limbs, and the umbilical cord. Some of the associated abnormalities seen can be explained by the altered physiology triggered by the presence of the sequence. By 12 weeks the normally developing foetus will pass urine into the amniotic sac. In a foetus with full URSMS there is no urinary opening and the re sulting oligohydramnios leads to a variety of problems including severe hypoplasia of the lungs and club feet.

Antenatal ultrasound scans showing oligohydramnios along with foetal abnormalities of the bladder, kidneys, spine or intestines should raise the possibility of URSMS [4]. In many cases hypoplastic lungs are present due to the deficiency of amniotic fluid. In some cases the abdomen may be distended due to the obstruction of the urinary system. Hypoplastic or dysplastic kidneys may also be apparent. The presence of partial URSMS is extremely difficult to establish on ultrasound since oligohydramninos may not be present.

In addition to partial URSMS the patient in this case also has VACTERL association. The abnormalities in this patient include hemivertebrae, bifid ribs, reversed sacral kyphosis, anterior anus, dysplastic pulmonary valve and stenosis, oesophageal atresia and trachea-oesophageal fistula, multi-cystic (and dysplastic) kidneys, club hand and bilateral rudimentary thumbs. In view of these multiple abnormalities the clinical genetics team are involved and have proposed the likely diagnosis of Wenstrup syndrome.

Wenstrup syndrome was first described in 1985 by wenstrup et al. [5]. It encompasses a wide variety of abnormalities which include the following: microphthalmia, absent sacrum, vertebral abnormalities (hemi-vertebrae, fusion), extra ribs, truncus arteriosus, vsd , abdominal muscle hypoplasia/aplasia, Meckel’s diverticulum, anal stenosis/atresia, tracheo-oesophageal fistula, ambiguous/absent genitalia, female pseudohermaphroditism, absent/malformed uterus, vaginal atresia, large bladder, renal agenesis, renal abnormalities (multiple renal cysts, hydronephrosis, small kidneys), dilated ureters/atresia, urethral stenosis/atresia, absent/hypoplastic thumbs and club foot.

Often the combination of these severe abnormalities results in very poor outlook at birth. However, the combined abnormalities in this specific patient has enabled a slightly brighter potential outlook. Solitary oesophageal atresia or full URSMS would both have resulted in varying degrees of oligohydramnios and poor lung development. Although a multi-cystic kidney and abdominal cyst were observed and under surveillance the suspicion of a more serious underlying defect was not suspected as the hallmark ultrasound finding of marked oligohydramnios in both the conditions was not observed antenatally. The simultaneous presence of partial URSMS and oesophageal atresia with a trachea-oesophageal fistula enabled good development of the lungs.

 

 

 

References

1. Escobar LF, Weaver DD, Bixler D, Hodes ME, Mitchell M. Urorectal septum malformation sequence. Report of six cases and embryological analysis. Am J Dis Child.1987; 141: 1021 – 1024.

2. Wheeler PG, Weaver DD, Obeime MO, Vance GH, Bull MJ, Escobar LF. Urorectal septum malformation sequence: report of thirteen additional cases and review of the literature. Am J Med Genet.1997; 73: 456 – 462.

3. Wheeler PG, Weaver DD. Partial urorectal septum malformation sequence: A report of 25 cases. Am J Med Genet. 2001; 103: 99 – 105.

4. Patil SJ, Phadke SR. Urorectal septum malformation sequence: ultrasound correlation with fetal examination. Indian a Journal of Pediatrics. 2006; 73: 287-293.

5. Wenstrup RJ, Pagon RA. Female pseudohermaphroditism with anorectal, mullerian duct, and urinary tract malformations: report of four cases. J Paediatr. 1985 Nov; 107(5): 751-4.