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

## TL;DR

This case report describes a patient with Smith–Magenis syndrome, highlighting its neurodevelopmental features, sleep issues, and a new EEG finding, which helps in early diagnosis and treatment.

## Contribution

The first reported case of 'Rolando-type' spike-and-sharp wave complexes on EEG in Smith–Magenis syndrome.

## Key findings

- SMS is associated with neurodevelopmental, behavioral, and sleep disturbances requiring early diagnosis.
- EEG in SMS can show 'Rolando-type' spike-and-sharp wave complexes, indicating brain immaturity.
- Multidisciplinary care improves quality of life for SMS patients through targeted therapies.

## Abstract

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.

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 EEG. This study (paper) presents and describes “Rolando-type” spike-and-sharp wave complexes on the EEG in Smith–Magenis syndrome for the first time.

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 EEG. This study (paper) presents and describes “Rolando-type” spike-and-sharp wave complexes on the EEG in Smith–Magenis syndrome for the first time.

Background/Objectives: Smith–Magenis syndrome (SMS) is a rare neurogenetic disorder caused by a microdeletion in chromosome region 17p11.2 or by pathogenic variants in the RAI1 gene. The syndrome is characterized by a distinctive neurobehavioral profile, including cognitive deficits, sleep disturbances, self-injurious behavior, and typical dysmorphic features. A characteristic diagnostic hallmark is paradoxical melatonin secretion, with increased daytime levels instead of the normal nocturnal peak. This article aims to summarize current knowledge on the etiology, diagnostics, EEG findings, therapy, and prognosis of SMS from a neuropediatric perspective. Methods: A narrative review of the literature on Smith–Magenis syndrome was conducted, focusing on genetic background, clinical features, diagnostic approaches, EEG characteristics, therapeutic strategies, and prognosis. In addition, a detailed clinical case of a 16-year-old female patient with SMS is presented. Results: The reviewed data confirm that SMS is associated with characteristic neurobehavioral abnormalities and sleep–wake rhythm disturbances. EEG findings may include epileptiform activity without overt epilepsy. In the presented case, “Rolandic-type” spike–sharp wave complexes were observed on EEG and are interpreted as an expression of congenital disturbances in brain maturation processes. Therapeutic recommendations addressing behavioral symptoms and sleep regulation are discussed. Conclusions: 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.