WILLIAMS-BEUREN-SYNDROME - LATE DIAGNOSIS IN A 24 YEAR-OLD MAN

Williams-Beuren syndrome is a multiple malformation syndrome with auto somal dominant inheritance and variable expression. Characteristic sym ptoms are congenital heart defects (typically supravalvular aortic ste nosis in combination with peripheral pulmonary stenoses), primary psyc homental retardation, distinct facial features, malformations of the k idney or urinary tract, failure to thrive and gastrointestinal symptom s in infancy and early childhood, and short stature (50% of patients). We report on a young man with Williams-Beuren syndrome in whom the di agnosis was made late at the age of 24 years. During infancy poor suck ling and recurrent vomiting were noted. Psychomental development was r etarded. The patient showed a hypersensitivity to noise and music. Ren al scarring was seen on the right side and a duplicated ureter on the left. Surgical anti-reflux treatment was performed at age 12 years. Th e patient attended a school for mentally handicapped children and is n ow working with an institutionalized group. At the age of 24 the typic al facial features of an adult with Williams-Beuren syndrome were seen , but no congenital heart defect. By molecular genetic analysis we dem onstrated hemizygosity for the elastin locus and thus confirmed the cl inical diagnosis of Williams-Beuren syndrome. Discussion: This observa tion demonstrates that the diagnosis of Williams-Beuren syndrome may b e markedly delayed in the absence of a cardiovascular defect. The comb ination of typical craniofacial signs, primary mental and psychomotor retardation, poor suckling and gastrointestinal symptoms in infancy an d early childhood, and malformations of the kidneys and/or the urinary tract should prompt consideration of Williams-Beuren syndrome.