Smith-Magenis syndrome (SMS) is a complex disorder characterized by variable mental retardation, sleep disturbances, craniofacial and skeletal anomalies, self-injurious and attention-seeking behaviors, and speech and motor delays. The case of a 14-month-old girl with SMS who was experiencing spasm clusters and sleep disturbances with sleep-wake intervals of 1.5 to 2 h persisting from the neonatal period was examined. The patient's spasms stopped and interictal electroencephalography did not show epileptic discharges after undergoing a high-dose adrenocorticotropic hormone (ACTH) therapy. Moreover, the patient's sleep cycle stabilized 1 month after receiving the ACTH therapy. Dramatic reductions in the patient's self-injurious behaviors were also noted. At 1 year following ACTH treatment, the patient's improved sleep was maintained. High-dose ACTH treatment was considered to contribute to the normal adaptation of the hypothalamic-pituitary-adrenal axis by regulating the release of corticotropin-releasing hormone, resulting in improvement of the patient's infantile spasms and sleep disturbances.
Keywords: Smith–Magenis syndrome; adrenocorticotropic hormone; corticotropin-releasing hormone; infantile spasms; sleep disturbance.