Bibliographic Review of Smith-Magenis Syndrome and its Psychopharmacological Management with Lithium: About a case

Introduction Smith-Magenis Syndrome (SMS) is a neurogenetic disorder caused by deletions on chromosome 17p11.2 or mutations in the RAI1 gene. It is characterized by intellectual disability , behavioral disturbances like aggression , impulsivity , self-injury , and sleep disruptions . A hallmark feature of SMS is inverted melatonin production , leading to daytime sleepiness and nighttime insomnia , which exacerbate behaviors. Traditional treatments, such as antipsychotics and SSRIs , often show limited effectiveness and can cause side effects, including metabolic syndrome , sedation , and extrapyramidal symptoms . Lithium has emerged as a promising alternative to manage treatment-resistant behaviors in SMS. Known for its mood-stabilizing properties in bipolar disorder , lithium modulates dopamine and serotonin , reduces aggression , and promotes neuronal plasticity . However, lithium requires close monitoring due to the risks of nephrotoxicity , thyroid dysfunction , and its narrow therapeutic index . Objectives This study explores lithium’s role in managing severe behavioral disturbances in SMS, especially in patients unresponsive to conventional treatments. The objectives are: (1) to review the literature on lithium’s efficacy and safety in SMS and similar neurodevelopmental disorders, and (2) to present a clinical case of a 25-year-old SMS patient treated successfully with lithium after antipsychotics and SSRIs failed. Methods A literature review was conducted using PubMed and Web of Science , focusing on articles published between 2013 and 2023 on lithium in SMS and related disorders. Additionally, the clinical case of a 25-year-old male with SMS, exhibiting aggression and self-injury , was documented. After other treatments failed, lithium was introduced with regular monitoring of serum levels , renal , and thyroid function throughout six months. Results Literature supports lithium’s efficacy in reducing aggression and impulsivity in SMS. Lithium modulates dopaminergic and serotonergic systems , stabilizing mood and reducing disruptive behaviors. In the clinical case, the patient improved within two weeks of lithium therapy. Over six months, aggression and self-injury diminished significantly, with no adverse effects and stable renal and thyroid function . Conclusions Lithium is an effective option for SMS patients with treatment-resistant behavioral disturbances , particularly aggression and self-injury . It offers a valuable alternative to antipsychotics and SSRIs, enhancing emotional stability and quality of life . However, careful monitoring is required to prevent toxicity. Further research is needed to confirm lithium’s long-term safety and efficacy in SMS. Disclosure of Interest None Declared