Letter

A letter from Dr Beckwith

In the past several decades I have been fortunate in having many parents of children with BWS who have kept me in touch with the growth, development and lives of their children, supplemented by annual photographs. This series presents an optimistic outlook for the infant or young child who is diagnosed as having BWS. The adolescent or adult who had this diagnosis in childhood can rarely be recognised as such in maturity, even when it was very apparent in early life. The cases in my files have grown up to be normal in appearance. Their adult height is variable but neither gigantic nor uncommonly short stature has been seen and intelligence is generally in the normal range with more exceptions on the high than low side. Of course some will have problems that are unrelated to their BWS.

The risk of tumour development is significant, being in the 7-10% range, so screening for tumors should be done as outlined below. Recent molecular studies have shown that there are several different molecular mechanisms for BWS, some of which seem to confer a higher risk of tumors than others. It may be possible in the near future to identify children who do not need to be screened for tumour development. This molecular heterogeneity also helps to explain why some children seem to be more severely affected than others.

We are still learning about the long-term prognosis as these children pass through the adult years, but to date we remain generally very optimistic. One problem that has emerged in about 15% of cases is a kidney disorder called “Medullary Sponge Kidney” (MSK). This is usually associated with a tendency to form kidney stones, and can lead to recurrent episodes of kidney infection. Most cases of MSK can be managed successfully, but one should be alert to this possibility if symptoms of urinary tract disease are encountered during later childhood, adolescence, or early adult life. A few cases have had problems that may or may not be related to BWS, including ovarian cysts, and a tendency toward joint dislocations due to lax ligaments. The incidence of diabetes, coronary heart disease and neoplasm in adult life remain uncertain, as does the outcome of their pregnancies.

There are not many birth defect syndromes that get better with time but this seems to be one of those. Parents who are deeply concerned that their baby looks “different” can be reassured that when their child is grown up nobody would know they had been a “BWS baby.”

The main points I emphasise to parents of newly diagnosed cases are:

1.The usual complications of BWS can usually be anticipated and can almost always be managed successfully

2.The older they become the more normal they become, and most children will grow up to be healthy and fully functional adults.

I encourage parents to view their children not as “syndrome babies” but as babies or children with features that contribute to their individuality just like “normal” youngsters. Ethnic background, family appearances and the normal variability of development have endowed each of us with an appearance that is distinctive. We are all “different!” Some of the features that make babies with BWS appear distinctive may need to be corrected. In recent years, we have learned that early surgical reduction of tongue size can minimize later problems with speech, orthodontics, and development of the lower face. Tongue surgery is not necessary in every child with BWS, but is more often recommended now than in former years.

I advise ultrasound examination of the abdomen EVERY THREE MONTHS for detection of tumours at a stage when they are still easily curable. This is best continued until about age 8. A blood test for alpha-fetoprotein (AFP) should be done at the same time for the first three years to detect a liver tumor called hepatoblastoma. However, that tumor is uncommon even in BWS children, and if the blood draw is too traumatic for the child, it is sometimes okay to rely on a good ultrasound examination of the liver. And after three years the risk of this tumor is negligible, and AFP tests are in my opinion no longer necessary. With those exceptions, I encourage treating these children just like any other.

Sincerely
Dr Beckwith

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