NIZON-ISIDOR SYNDROME, A RARE GENETIC DISEASE WITH LATE DIAGNOSIS PRESENTING WITH AUTISM SPECTRUM DISORDER: A CASE REPORT

<p style="text-align: justify;">Nizon-Isidor syndrome (NIZIDS) is a rare genetic disorder associated with mutations in the MED12L gene and is usually characterized by a distinctive facial appearance, neurodevelopmental delay, autism spectrum disorders (ASD), and chronic gastrointestinal symptoms (GIS). In this case report, we emphasize the importance of early evaluation of genetic tests and diseases with Nizon-Isidor syndrome in our patient, who had characteristic facial findings, ongoing GI symptoms since birth, diagnosed with ASD at the age of 2, and diagnosed with Nizon-Isidor at a late stage (age 4) in an 8-year-old girl. In particular, it has been demonstrated once again that early genetic testing in patients with similar clinical features plays a critical role in reaching the correct diagnosis and treatment planning. These findings indicate the importance of a multidisciplinary approach in the recognition of rare syndromes of genetic origin.</p>