Pediatric Nephrology, Vol. 14, No. 6, May, 2000
Brief Report, pages 489-492
Author: R. S. Mathias

Abstract:
Calcium homeostasis is altered in patients with Williams syndrome. We report an infant in whom Williams syndrome was diagnosed at 4 weeks who presented with hypercalcemia, hypercalciuria, and medullary nephrocalcinosis. Fluorescence in situ hybridization demonstrated a deletion of the elastin gene on chromosome 7. This infant was treated with a low-calcium / vitamin D-deficient infant formula that resulted in the development of rickets. Replacement of the low-calcium / vitamin D-deficient formula with standard formula led to resolution of the rickets.

Keywords:  Williams syndrome . Hypercalcemia . Hypercalciuria . Nephrocalcinosis . Rickets

Is this useful?
Phyllis Adamson

---- Vicki Seroussi <[log in to unmask]> wrote: 
> Mother has given permission to post.
> 
> I am working with the mother of a six month old daughter recently diagnosed
> with Williams Syndrome. The child is so far developmentally on track, and
> breastfeeding well. She was referred to a cardiologist for a heart murmur,
> which the cardiologist suspected as classic for Williams Syndrome.
> Subsequent blood work confirmed that diagnosis.
> 
> The child's pediatrician has told the mother that she must wean to a calcium
> free formula to avoid hypercalcemia. The mother very much wants to preserve
> the breastfeeding relationship.
> 
> Does anyone have an experience with avoiding formula if hypercalcemia is
> diagnosed? Any other suggestions or advice for this mother would be
> appreciated for this mother.
> 
> Vicki Seroussi
> *Area Coordinator of Leaders, La Leche League of Connecticut*
 
--
Phyllis Adamson, IBCLC, RLC
Glendale, AZ.
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