Endocrine Abstracts

Introduction: Williams–Beuren syndrome is a rare genetic condition with clinical manifestations that include a distinct facial appearance, cardiovascular anomalies that may be present at birth or may develop later in life, idiopathic hypercalcemia, and a characteristic neurodevelopmental and behavioral profile.

Case report: We present a particular case of a 3.5 years old boy, born SGA at 39 weeks of gestation with neonatal hypoxia, diagnosed at 1.6 years old with Williams syndrome (FISH analysis: microdeletion 7q11.23 (ELN/D7S613-), after multiple neuro-psychiatric evaluations for developmental delay and cognitive deficits.

Clinical exam: Normal stature, ponderal hypotrofia, facial dysmorphism: bilateral epicanthal folds, hypertelorism, microcephaly, short upturned nose, long philtrum, wide mouth, full lips, dental malocclusion and widely spaced teeth, micrognathia, blue–green eyes, stellate irises, lacrimal ducts imperforation; sunken chest, normotensive, systolic murmur, retractile testes, congenital fimosis, G1P1 Tanner stage; mild-moderate psychomotor delay, lower limb spastic hypertonia, hyperreflexia. Psychological examination: hyperkinetic, with mild heteroaggressive elements, attention deficit disorder, easily distracted; borderline intelligence. Echocardiography: mild supravalvular aortic stenosis, isolated septal hypetrophy. Normal renal function and ultrasound. Normal thyroid function, upper normal limit serum calcium (10.1 mg/dl, NV=8.6–10.4 mg/dl), normal glycaemia.

Conclusion: Although the patient did not develope any endocrine feature by the the time of presentation we report this case to illustrate a complex multisystem medical condition that requires a multidisciplinary team depending on the specific phenotype manifestations. Rehabilitation programs and educational interventions improve the prognosis and the social adjustment of the patient. This case needs family support and periodicallly referrals to pediatric neurologist and psychiatrist, cardiologist and/or cardiac surgeon, endocrinologist (for calcium and vitamin D levels, thyroid function, glucose tolerance testing, gonadal function), genitourinary tract ultrasound, assessments for visual problems or hearing loss.