A Clinical Practice Example of Smith-Magenis Syndrome in the Neuropediatric Clinic: Etiology, Clinical Presentation, Diagnostics and Therapeutic Approaches-A Case Report
Abstract
Highlights What are the main findings? Smith–Magenis syndrome (SMS) presents with a characteristic constellation of neurodevelopmental, behavioral, and sleep–wake disturbances, making early clinical recognition essential for accurate diagnosis. A multidisciplinary diagnostic approach—including genetic testing (deletion 17p11.2 or RAI1 mutations), developmental evaluation, and behavioral assessment—is crucial for establishing the diagnosis and guiding individualized therapy. What are the implication of the main findings? Early identification of SMS allows for a timely initiation of targeted therapeutic interventions (behavioral management, sleep regulation, parent support), which can significantly improve the quality of life for patients and families. The case report underscores the importance of collaboration among neuropediatricians, geneticists, psychologists, and sleep specialists to meet the complex clinical needs of individuals with SMS. “Rolando-type” spike-and-sharp wave complexes (benign epilepsy-type potentials of childhood, BEPC) in the EEG are a specific marker of brain immaturity in children and have two main causes: a genetic predisposition with congenital impairment of brain maturation, and organic lesions of the central nervous system. In this case (Smith–Magenis syndrome (SMS)), there is also a congenital disorder of brain maturation, manifested by the presence of benign epilepsy-type potentials of childhood (BEPC, “Rolando-type” spike-and-sharp waves) in the…
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