DIAGNOSIS OF SMITH-MAGENIS SYNDROME IN EARLY CHILDHOOD: CASE REPORT

Abstract

Objective: To report the case of a child with Smith-Magenis syndrome, enriching the medical literature and highlighting the importance of early diagnosis in the patient’s progress. Methods: This is a descriptive case study based on the clinical evaluation of a patient at a craniofacial anomalies reference center in western Paraná. Results: The female patient began treatment at the center at 1 year and 6 months of age, presenting with mild hypotonia, neuropsychomotor developmental delay, craniofacial abnormalities, and self-injurious behavior, with normal blood tests and audiometry. She returned to the center at 2 years and 2 months of age, when she was diagnosed with Smith-Magenis Syndrome based on the results of a previously requested G-banded karyotype. Upon receiving the results, the family was reassured about the child's “temperamental” behavior and began follow-up with the center's multidisciplinary team until the age of 3 years and 4 months, when she was referred to the Associação de Pais e Amigos dos Excepcionais (APAE) in her municipality. With appropriate multidisciplinary treatment, her speech, swallowing, and behavior improved. She was also medicated for aggression. Conclusion: Knowledge of the clinical features of the syndrome is essential for early diagnostic confirmation and, consequently, for the appropriate therapeutic management of patients through multidisciplinary care.

DESCRIPTORS: Abnormalities, Multiple; Congenital Abnormalities; Chromosome Disorders; Genetic Diseases, Inborn; Chronobiology Disorders.