WILLIAMS SYNDROME IN PEDIATRIC PRACTICE

Abstract

This clinical case presents our observations of a 5-month-old boy diagnosed with Williams’s syndrome, highlighting the complexities of recognizing this condition, especially in the early stages of life, where paediatricians and neonatologists play a crucial role in the diagnostic process. Williams’s syndrome is a rare genetic disorder, affecting approximately 1 in 10,000 newborns across different ethnic groups and genders. The condition is primarily caused by a mutation in a group of genes located on the long arm of the 7th chromosome (7q11.23), leading to microdeletion and the loss of specific genes, including elastin, LIM-kinase-1, and replication factor C2 (RFC), while some "lost" genes remain unidentified. In rarer cases, deletions are found on the 11th and 12th chromosomes (11q13-q14 and 22q). This syndrome often presents sporadically, complicating early diagnosis due to its multisystem nature, affecting various organs and systems, such as the cardiovascular, nervous, muscular, urinary, and facial structures. The absence of timely diagnosis and treatment can adversely impact physical and neuropsychological development in affected children. In our case, the final diagnosis was confirmed through molecular genetic examination. Our conclusion highlights the challenges of diagnosing Williams’s syndrome due to its multisystem clinical manifestations. Early diagnosis is essential for parents to gain insights into the disease, its prognosis, and to make informed decisions about raising the child within the family. We recommend a comprehensive approach to the care and rehabilitation of patients with Williams’s syndrome. This necessitates the coordinated efforts of various specialists including paediatricians, geneticists, cardiologists, surgeons, orthopaedists, orthodontists, endocrinologists, ophthalmologists, neurologists, and psychologists throughout the patient's follow-up care.