Williams-Beuren syndrome in combination with celiac disease
Pankau, R.; Partsch, C.J.; Gosch, A.; Santer, R.
Monatsschrift Kinderheilkunde Organ der Deutschen Gesellschaft für Kinderheilkunde 141(7): 577-580
1993
ISSN/ISBN: 0026-9298 PMID: 8413335 Document Number: 409922
At age 5 years coeliac disease was diagnosed in a boy with Williams-Beuren syndrome. Gastrointestinal symptoms may be similar in both disorders. Short stature, not only in comparison to the normal population but also in comparison to syndrome-specific growth standards, and failure to thrive led to the diagnosis coeliac disease. During the first year of dietetic therapy the boy showed marked weight gain, catch-up growth and a normalisation of red blood count. Gliadin-IgG antibodies and endomysium-IgA antibodies who were positive before treatment were no longer detectable. Our case demonstrates that syndrome-specific growth standards are helpful even though the combination of Williams-Beuren syndrome with a second disorder is very unlikely (Williams-Beuren syndrome and coeliac disease are to be expected in 1:13.7-1:25 millions).