|Year : 1992 | Volume
| Issue : 4 | Page : 122-123
Aniridia-Wilms' tumour syndrome-A case report
MS Vidyasagar, Sudha V Sagar, Girija R Kumar, PLNG Rao
Kasturba Medical College & Hospital, Manipal - 576119, Karnataka, India
Dept of Paediatric Surgery, Kasturba Medical College & Hospital, Manipal - 576119, Karnataka
Source of Support: None, Conflict of Interest: None
Wilms' tumour is rarely associated with sporadic non-familial congenital aniridia. A child with sporadic aniridia has a 25% chance of subsequently developing Wilms' tumour. Unawareness of this association can lead to a delayed diagnosis of Wilms' tumour. One such case in a 2 year old is reported. Wilms' tumour, one of the common childhood malignancies, is associated with other congenital anomalies in about 15% of cases. These include hemihypertrophy, genitourinary abnormalities, mental retardation, aniridia etc. Sporadic non-familial aniridia was noted in only 1.1% of 547 children with Wilms' tumours evaluated by the National Wilms' Tumour study group. Unawareness on the part of a clinician about these associated anomalies can lead to an avoidable delay in diagnosing Wilms' tumour. One such case in a two year old girl is being reported.
|How to cite this article:|
Vidyasagar M S, Sagar SV, Kumar GR, Rao P. Aniridia-Wilms' tumour syndrome-A case report. Indian J Ophthalmol 1992;40:122-3
|How to cite this URL:|
Vidyasagar M S, Sagar SV, Kumar GR, Rao P. Aniridia-Wilms' tumour syndrome-A case report. Indian J Ophthalmol [serial online] 1992 [cited 2020 May 28];40:122-3. Available from: http://www.ijo.in/text.asp?1992/40/4/122/24378
| Case report|| |
Baby S, a 2 year old girl was admitted with us with a progressively increasing right sided abdominal mass of 6 months and abdominal distension of 10 days duration. Two months prior to this, following a blunt abdominal injury, she was noted to have a small mass in the right lumbar region, which was considered as a haematoma, elsewhere. She also had watering of both eyes and photophobia since birth, and at the age of 4 months had surgery for glaucoma of both eyes.
Abdominal examination revealed a hard, nodular well localised mass of about 15 cms size in the right lumbar region extending into the right hypochondrium and was crossing the mid line. Prominent veins over the abdominal wall and minimal ascites were also noted. The child also had microcephaly with a head circumference of 41 cms, with no clinical evidence of mental retardation.
Ophthalmic examination revealed bilateral aniridia [Figure - 1] a & b and pendular nystagmus. Intraocular pressure was found to be 18 and 14.5 mm.Hg in the right and left eyes respectively. With a provisional diagnosis of right Wilms' tumour the child was investigated. All the haematological and biochemical investigations were within normal limits. Plain X-ray of the abdomen showed a rim of calcification in the right hypochondriac region. Intravenous pyelography revealed a nonfunctioning kidney on the right side and a normally functioning kidney on the left side. Abdominal sonography showed a complex calcified mass in the right renal region. The inferior venacava was compressed but was free of tumour [Figure - 2]. There was no evidence of metastases anywhere else. Hence, a right nephroureterectomy was carried out, histopathology of which confirmed it to be Wilms' tumour. However, twelve hours postoperatively the child developed respiratory problem, deteriorated rapidly and died six hours later. Parents did not agree for a postmortem. Hence, the cause of death could not be ascertained.
| Discussion|| |
Since the description of "Aniridia-Wilms tumour" association in 1953 by Brusa and Toricelli  about fifty cases were reported till 1975 . However, Miller was the first to emphasize about the Aniridia-Wilms' tumour association which is also known as Miller's Syndrome.
Aniridia is an extremely rare condition occurring in approximately one in 50,000 individuals. The frequency of Wilms' tumour-in the general population is one in 10,000 to 50,000 individuals. On the other hand, Fraumeni and Glass  found seven Wilms' tumour patients among 28 cases of aniridia. This suggests that Wilms' tumour is more frequent in patients with aniridia than in general population. This is the first case of aniridia Wilms' tumour syndrome observed, out of a total of 38 cases, at Kasturba Hospital, Manipal.
In addition to aniridia, our child also had microcephaly, glaucoma and nystagmus. In a study of 28 patients with non familial bilateral aniridia Wilms' tumour syndrome, mental retardation along with microcephaly and craniofacial dysmorphism was observed in 71%, and cataract and glaucoma in 78% of cases . The association of aniridia with other mesodermal anomalies suggests an early teratogenic or embryonic insult .
The underlying defect of Aniridia-Wilms' tumour was found to be a small interstitial deletion of chromosome band 11 p 13 . Due to the lack of facilities we could not do chromosomal studies in our case. The importance of this lies in the early diagnosis of the tumours in aniridic patients. A gene dosage for catalase has been found in patients with various aberrations pertaining to a specific chromosome . A low catalase activity in patients with sporadic aniridia, warrants a close surveillance to detect Wilms' tumour, early . In addition, Friedman  suggested, frequent abdominal sonography of aniridic individuals to facilitate early detection of Wilms' tumour. He followed up 11 patients with sporadic aniridia, of which two developed Wilms' tumour subsequently.
Though our child was noted to have aniridia and presented with a right lumbar mass (which was considered as a haematoma) 8 months prior to the admission with us, the unawareness of aniridia - Wilms' tumour association, on the part of the treating clinician, probably resulted in an unnecessary delay in making a final diagnosis of Wilms' tumour. If only an early diagnosis was made, the outcome could have been different.
In conclusion it is suggested that a Wilms' tumour should be suspected in all cases of sporadic aniridia, unless proved otherwise and a close surveillance of these children is a must.
| Acknowledgements|| |
We acknowledge our thanks to the Medical Superintendent, Principal and Medical Director of Kasturba Medical College and Hospital for allowing us to publish this case.
| References|| |
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[Figure - 1], [Figure - 2], [Figure - 3]