Syndromic obesity in children: using a Web-based virtual diagnostic application as a case study

In pediatric practice, hereditary diseases associated with syndromic obesity caused by chromosomal and other genetic abnormalities are common. Syndromic forms of obesity are characterized by broad clinical polymorphism and share symptoms with more well-known and common diseases, which often leads to diagnostic errors and, consequently, inappropriate and untimely treatment. Early diagnosis of syndromic forms is important both for diagnosis and timely treatment, as well as for preventing the development of severe obesity and its complications. A specific clinical case is described: a 10-year-old boy with complaints of excessive weight gain and headaches. He had been repeatedly examined at his local hospital and diagnosed with exogenous-constitutional obesity, steatohepatosis. Based on the phenotype and laboratory and imaging findings, a differential diagnosis was performed to exclude syndromic forms of obesity in this patient with childhood-onset obesity. Prader–Willi and Alström syndromes, as well as other hereditary disorders, were primarily excluded. Molecular genetic testing allowed the diagnosis of Bardet–Biedl syndrome, an autosomal recessive disorder belonging to the ciliopathy group. However, given the low incidence of the disease in the population, insufficient knowledge of this pathology among doctors, the high cost and limited availability of genome-wide research methods that allow for laboratory differential diagnostics, it is advisable to develop educational computer aids that allow for modeling the clinical diagnostic process. The authors have developed a web application — an interactive training program — that enables virtual diagnosis of this clinical case: analyzing the patient’s information, determining a plan for further examination, considering possible diagnostic hypotheses, referring the patient to specialists, formulating a differential diagnosis, and establishing a diagnosis. The web application can be used in the training of medical students and clinical residents as a supplementary teaching aid, as well as for advanced training for pediatricians, endocrinologists, and physicians of other specialties who may encounter this pathology in their practice.