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Year : 2003  |  Volume : 13  |  Issue : 1  |  Page : 81-83
Antenatal ultrasound diagnosis of Potter's syndrome


Department of Radio-Diagnosis, D.D.U Hospital, Delhi, India

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Keywords: Potter, Renal Agenesis

How to cite this article:
Dayal J, Maheshwari E, Ghai P S, Bhatotia S. Antenatal ultrasound diagnosis of Potter's syndrome. Indian J Radiol Imaging 2003;13:81-3

How to cite this URL:
Dayal J, Maheshwari E, Ghai P S, Bhatotia S. Antenatal ultrasound diagnosis of Potter's syndrome. Indian J Radiol Imaging [serial online] 2003 [cited 2019 Oct 20];13:81-3. Available from: http://www.ijri.org/text.asp?2003/13/1/81/28633

   Introduction Top


Potter's Syndrome is a rare disorder characterised by bilateral renal agenesis, pulmonary hypoplasia, limb deformities and typical facies. Our recent experience with a case of bilateral renal agenesis diagnosed antenatally has prompted us to report this rare case.


   Case Report Top


A twenty-five-year old primigravida female was referred for a second trimester ultrasonogram as a part of routine antenatal check up. Ultrasonography was done using Synergy Diasonics equipment, with 3.5 MHz and 6.5 MHz curvilinear transducers.

The scan [Figure - 1] revealed a live foetus with breech presentation, dolicocephalic skull and gestational age corresponding to 27 weeks according to bi-parietal diameter and femur length. There was complete absence of amniotic fluid [Figure - 4] with non-visualisation of both kidneys and urinary bladder [Figure - 3], hypoplastic thoracic cavity and a normal placental implantation. Adrenal glands were seen lying adjacent to the spine occupying the renal fossa. Color flow mapping [Figure - 2] revealed lack of bilateral renal arteries.

The patient subsequently underwent induction for termination of pregnancy and delivered a still born male child. Post natal scan [Figure - 7][Figure - 8] of the baby confirmed the above findings of bilaterally absent kidneys, absent urinary bladder and non-visualisation of both renal arteries.

The baby [Figure - 5][Figure - 6] had low set ears, redundant skin, and a prominent fold at the inner canthus of each eye with pulmonary hypoplasia. These findings along with the bilateral renal agenesis prompted us to make a diagnosis of Potter's Syndrome.

Ultrasound scan of both parents revealed normal kidneys.


   Discussion Top


By definition, bilateral renal agenesis is absence of both kidneys associated with the oligohydramnios sequence. Its incidence 1-2/10,000, usually with a sporadic occurrence but 20-36% of bilateral renal agenesis present with a familial recurrence. Despite its association with chromosomal, x-linked recessive autosomal dominant and recessive or non-mendelian syndromes, it most often occurs without an associated syndrome. It is two to three time more common in males than females and is said to carry a recurrence risk of 3% for sporadic cases.

Bilateral renal agenesis results from a lack of induction of the metanephric blastema by the ureteral bud. The absence of kidneys results in the absence of amniotic fluid after 14-16 weeks and the oligohydramnios causes the pulmonary hypoplasia.


   Diagnosis Top


Despite the fact that the primary abnormality is in renal development, the diagnosis is first suggested by the absence of amniotic fluid and absence of demonstrable urinary bladder. Further, lack of kidneys is documented and with the aid of Colour Doppler, lack of renal artery signal can be identified. [1],[2]. Observation of the umbilical arteries as they course around the fetal urinary bladder will assist one in confidently identifying the urinary bladder. In cases of Renal agenesis, the adrenal gland assumes an ovoid, elongated or discoid shape seen as a reniform structure on parasagittal and transverse scans in the renal fossae. The term "lying down adrenal sign" has been ascribed to the elongated appearance of the adrenal, not normally molded by the adjacent kidney.

Potter's Syndrome is bilateral renal agenesis exemplified by pulmonary hypoplasia, limb deformities, and typical facies. The limb deformities constitute abnormal hand and foot positioning, bowed legs, club feet and hip dislocation. The typical facies can comprise of low set ears, redundant skin, parrot beak nose, receding chin and a prominent fold arising at the inner canthus of each eye.[3]

In practice, most of these are difficult to identify by ultrasound because of the oligohydramnios.


   Associated Anomalies Top


There have been reports of genital abnormalities in 20% - 70% of cases of renal agenesis, they develop more frequently in males than in females. Associated extra genital abnormalities include cardio vascular (30%), intestinal (25%) and skeletal disorders (15%). Many different associations have been described (Vacterl, Meckel, Chromosome 22 malformations)


   Differential Diagnosis Top


Bilateral renal medullary cystic dysplasia and bilateral renal hypoplasia may appear as bilateral renal agenesis.[4] Further, normal but non functioning kidneys on an abnormal placental implantation can lead to same presentation of severe oligohydramnios. This information is important to convey during patient's counseling. The concern is not only the renal agenesis, but the oligohydramnios that will lead to pulmonary hypoplasia.


   Prognosis and Management Top


Potter's Syndrome carries a lethal prognosis, incompatible with life. Many authors have suggested the use of amnioinfusion or even intra abdominal infusion of saline in order to better visualise the anatomy. [5] Although there might be indications for such aggressive approach in non-viable fetuses, these are quite uncommon, and not justified in the majority of cases. Termination of pregnancy can be offered before viability. Standard prenatal care is not altered when continuation of pregnancy is opted for. Confirmation of diagnosis after birth is important for genetic counseling.

 
   References Top

1.Bronsntein M, Amit A, Achiron R, Noy I, Blumenfeld Z. The early prenatal sonographic diagnosis of renal agenesis; techniques and possible pitfalls, prenet Diagn. 1994 April; 14 (4) : 291-7.  Back to cited text no. 1    
2.Sepulveda W, Stagiannis KD, Flack NJ, Fisk NM Accuracy of prenatal diagnosis of renal agenesis with color flow imaging in severe second trimester oligohydramnios. Am J Obstet Gynecol 1995 Dec; 173(6) : 1788-92.  Back to cited text no. 2    
3.Curry CJR, Jensen K, Holland J, et al: The Potter sequence : Clinical analysis of 80 cases. Am J Med Genet 19:679, 1984  Back to cited text no. 3    
4.Latini JM, Curtis MR, Cendron M, Crow HC, Bakee E, Marin - Padilla M. Prenatal failure to visualize kidneys: a spectrum of disease Urology 1998 Aug ; 52 (2) : 306-11.  Back to cited text no. 4    
5.Harusler MC, Ryan G, Ronson SC, Lipitz S, Rodeck CH. The use of saline solution as a contrast medium in suspected diaphragmatic hernia and renal agenesis. Am J. Obstet Gynaecol 1993 May; 168 (5) : 1486-92.  Back to cited text no. 5    

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Correspondence Address:
E Maheshwari
Room No 214, Doctors Hostel, D.D.U.Hospital, Hari Nagar, New Delhi-110064
India
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Source of Support: None, Conflict of Interest: None


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    Figures

[Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4], [Figure - 5], [Figure - 6], [Figure - 7], [Figure - 8]

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    Introduction
    Case Report
    Discussion
    Diagnosis
    Associated Anomalies
    Differential Dia...
    Prognosis and Ma...
    References
    Article Figures

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