March 3, 2026Open Access

A Clinical Practice Example of Smith–Magenis Syndrome in the Neuropediatric Clinic: Etiology, Clinical Presentation, Diagnostics and Therapeutic Approaches—A Case Report

Puntos clave

Smith–Magenis syndrome is characterized by notable sleep disturbances and EEG abnormalities.
Key features include distinctive neurophysiological signs that aid in diagnosis and intervention.
Multidisciplinary approach promotes effective management through individualized therapeutic strategies.
Potential long-term benefits support quality of life improvements with early recognition of symptoms.

Resumen

Smith-Magenis syndrome represents a complex neurodevelopmental disorder with distinctive clinical, neurophysiological, and genetic features. Early recognition of characteristic signs, including sleep disturbances and EEG abnormalities, is essential for appropriate management. A multidisciplinary, individualized therapeutic approach may improve quality of life and long-term outcomes.

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