Williams-Beuren Syndrome and the importance of the timely diagnosis. Case report

Abstract

Objective: We present a patient with Williams-Beuren Syndrome (WBS) with severe global delay and other notable anomalies in the first year of life, highlighting cognitive dysfunction/global delay to promote timely clinical suspicion and the importance of early multidisciplinary management, reducing patient morbidity.

Case description: 12-month-old male patient, second gestation product, a cesarean section at 37,5 weeks, birth weight 2400 g, height 47 cm, and head circumference 34 cm. He attends a follow-up appointment with Pediatrics at 3 months old where dacryostenosis, difficulty feeding, and minor facial dysmorphia are observed. In the family history; young parents, no history of genetic diseases, not consanguineous. Follow-up is carried out for 12 months due to the severity and unusual presentation of some manifestations in late phases.

Conclusions: SWB has been described due to its variable clinical manifestations, however, its identification and multidisciplinary interventions are opportune since multisystemic alterations are known according to age. SWB should be considered within the differential diagnoses in pediatric patients with delayed psychomotor development and/or facial dimorphisms that could lead to late diagnosis and management and promote complications in adulthood.