SMITH MAGENIS SYNDROME: CASE REPORT IN THE MUNICIPALITY OF ITAPERUNA - RJ

Abstract

Smith-Magenis syndrome presents as a neurobehavioral disorder, whose etiology lies in the haploinsufficiency of the RAI1 gene due to a genetic mutation or deletion of chromosome 17p11.2. CASE REPORT: This is the case of a patient from the municipality of Itaperuna who has the syndrome in question and whose diagnosis occurred at the age of 1 year and 10 months through the FISH cytogenetic test. DISCUSSION: It is a rare syndrome with a significant social and health impact on both the affected individual and their surrounding family. Among the behavioral manifestations observed in the studied patient, there is marked hyperreactivity associated with attention deficit, reluctance toward adaptive behaviors, and self-injurious behavior characterized as onychotillomania, in which the child frequently pulls out her toenails until they bleed and breaks her own teeth. This is related to alterations in nociceptive mechanisms, resulting in a decreased perception of pain. Furthermore, another significant clinical manifestation is the sleep disorder, with circadian cycle inversion and altered melatonin release mechanism via the pineal gland. As such, it is noteworthy that even with the daily use of sleep-inducing medications, the patient only sleeps an average of three hours per night. Lastly, the patient's mother reports experiencing social discrimination regarding her daughter and complains about the lack of preparedness of the public educational institution in addressing the child’s specific needs within the school environment. FINAL CONSIDERATION: This work aims to enrich the understanding of the syndrome through an integrated approach that values not only the clinical aspects but also the unique perspective provided by the family's lived experience. In doing so, it seeks to disseminate information and foster discussions on the subject, contributing positively to society, considering that this is a condition rarely discussed in social and health spheres, where there is a lack of public health actions and services specifically geared toward individuals with this syndrome.