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LETTER TO THE EDITOR Table of Contents   
Year : 2011  |  Volume : 8  |  Issue : 1  |  Page : 115-116
Beckwith Wiedemann syndrome: Do we need to screen for associated renal malignancy?


Department of Medical Oncology, Cancer Institute, Adyar, Chennai 600 020, India

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Date of Web Publication6-Apr-2011
 

How to cite this article:
Seshachalam A, Nandennavar M, Karpurmath S, Sagar T G. Beckwith Wiedemann syndrome: Do we need to screen for associated renal malignancy?. Afr J Paediatr Surg 2011;8:115-6

How to cite this URL:
Seshachalam A, Nandennavar M, Karpurmath S, Sagar T G. Beckwith Wiedemann syndrome: Do we need to screen for associated renal malignancy?. Afr J Paediatr Surg [serial online] 2011 [cited 2020 Nov 23];8:115-6. Available from: https://www.afrjpaedsurg.org/text.asp?2011/8/1/115/79074
Sir,

Beckwith Wiedemann syndrome (BWS) is a fetal overgrowth disorder with a classical triad of macroglossia, hemihypertrophy, and abdominal wall defect. Incidence of BWS is approximately 1 in 15,000 live births and 57% of them develop Wilms' tumor. [1],[2] Since an early identification of cancer can lead to improved survival, it is important to screen these children for Wilms' tumor at regular intervals.

A 13-year-old boy was evaluated for fever and abdominal mass of 1 month duration. He was initially evaluated in a private hospital where biopsy of the abdominal mass was done and later referred to our institute. He was born to a non-consanguineous marriage with a large birth weight causing difficult labor. He had generalized tonic clonic convulsion on the second postnatal day with documented hypoglycemia.

On examination he was right handed, had dysmorphic facies, left hemifacial hypertrophy [Figure 1], low set ears, ear lobe crease, high arch palate, synorphys, macroglossia, retrognathia, and left lower limb hypertrophy [Figure 2] with limb length discrepancy of 4.5cm. Left lower limb circumference at calf and thigh, as measured from bony landmarks, was 2 and 2.5 cm more than the right side. Blood pressure was 170/100 mm Hg. Per abdomen examination revealed a smooth, nontender, large mass with ill-defined borders occupying most of the left lumbar and hypochondriac regions.
Figure 1: Left hemifacial hypertrophy.

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Figure 2: Hypertrophied left foot.

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Complete blood count, 24-hour urinary VMA, and renal and liver function tests were within normal limits. His creatinine clearance was 100 ml/min. A renogram was obtained revealing GFR of left kidney as 23.5 ml/min and right kidney as 65.2 ml/min.

Biopsy of the abdominal mass revealed Wilms' tumor (blastemal component with focal anaplasia). Karyotype - 45XY, del 11p15-21. CT scan abdomen revealed a large heterodense mass arising from superior pole of left kidney with hepatomegaly and multiple liver metastases [Figure 3] and [Figure 4]. CT chest revealed bilateral multiple pulmonary metastases. Patient was diagnosed to have BWS with metastatic Wilms' tumor and was started on SIOP- 9 protocol. After two cycles of chemotherapy, patient was found to have progressive disease (increase in size of liver metastases) and the treatment was discontinued.
Figure 3: Left renal mass.

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Figure 4: Left renal mass with liver metastases.

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Affected infants are typically large for date babies with high incidence of hypoglycemic convulsions during the neonatal period. The risk of malignancy increases to 40% in association with asymmetrical growth, in comparison with symmetrical growth. [2],[3] The common malignancies likely to occur are Wilms' tumor, hepatoblastoma, and adrenal gland tumors. It is recommended to screen these children with AFP levels until 4 years of age and with ultrasonography until 8 years of age. [4],[5]

Our case was not diagnosed as a case of BWS till 13 years of age and hence regular screening was not carried out. Although most of the literature evidence suggests screening of children with BWS for Wilms' tumor till 8 year of age, 5% of them can develop Wilms' tumor at later age group. Children with BWS who were screened for Wilms' tumor are less likely to present with advanced stage than those who were not screened (0 of 12 vs 25 of 59). [5]

In conclusion, early recognition of BWS is important because of its associated risk of malignancy. Prognosis for longterm survival is good if these children are identified early and appropriately screened for malignancy.

 
   References Top

1.Kaufos A, Grundy P, Morgan K, Aleck KA, Hadro T, Lampkin BC et al. Familial Wiedemann - Beckwith syndrome and a second Wilms' tumor locus both map to 11p15.5. Am J Hum Genet 1989;44:7119.  Back to cited text no. 1
    
2.Debaun MR, Tucker MA. Risk of cancer during the first four years of life in children from The Beckwith Wiedemann Syndrome Registry. J Pediatr 1998;132:398-400.  Back to cited text no. 2
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3.Debaun MR, Siegel MJ, Choyke PL. Nephromegaly in infancy and early childhood: A risk factor for Wilms' tumor in Beckwith Wiedemann syndrome. J Pediatr 1998;132:401-4.  Back to cited text no. 3
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4.Debaun MR, Brown M, Kessler L. Screening of Wilms' tumor in children with high risk   Back to cited text no. 4
    
5.congenital syndrome. Consideration for an intervention trial. Med Pediatr Oncol 1996;27:41521  Back to cited text no. 5
    

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Correspondence Address:
Manjunath Nandennavar
Department of Medical Oncology, Cancer Institute (WIA), Adyar, Chennai 600 020
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0189-6725.79074

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