Abstract Introduction Children with Turner syndrome are at elevated risk for sleep-disordered breathing and chronic insomnia due to craniofacial structure, developmental delay, and complex medical comorbidities. However, limited evidence exists on how basic physiological supports may modify sleep patterns in this population. We present a child with Turner syndrome whose years-long pattern of severe sleep fragmentation improved rapidly and unexpectedly following combined melatonin therapy and nutritional supplementation. Report of case(s) A 5-year-old girl with Turner syndrome, aortic coarctation, valvular heart disease, failure to thrive, and global developmental delay was referred for chronic sleep maintenance insomnia beginning in infancy. Her baseline sleep pattern involved frequent nighttime awakenings, prolonged nocturnal alertness, and an inverted schedule characterized by daytime sleep. Behavioral sleep routines had been attempted without improvement. Despite fragmented sleep, she displayed daytime hyperactivity without excessive sleepiness. Examination revealed craniofacial features typical of Turner syndrome—retrognathia, midface hypoplasia, high-arched palate, and webbed neck—contributing to elevated risk for sleep-disordered breathing. Snoring was mild and intermittent, with no witnessed apneas, parasomnias, or restless sleep behaviors. At the time of sleep evaluation, caregivers reported a striking and unexpected improvement. Two interventions initiated several weeks earlier—melatonin 2 mg nightly and a calorie-dense nutritional supplement—were associated with rapid sleep consolidation. Her mother described a shift from hours of nighttime wakefulness to effortless sleep initiation/maintenance. The child now fell asleep within 5 - 10 minutes, slept from 10 PM to 8 AM without awakenings, and took only a brief afternoon nap. Symptoms were reflected by a Pediatric Epworth Sleepiness Scale score of 7 and Insomnia Severity Index of 4. Because sleep had normalized, snoring was minimal, and daytime functioning was appropriate, polysomnography was deferred. Given Turner-associated craniofacial airway risk ongoing monitoring was advised with sleep testing recommended if snoring worsened, sleep fragmentation recurred, or cardiopulmonary symptoms emerged. Conclusion This case demonstrates dramatic resolution of severe, chronic sleep maintenance insomnia in a child with Turner syndrome following combined melatonin and nutritional supplementation. The synergistic impact of physiologic sleep support and improved nutrition may be under recognized in this population. The case also emphasizes individualized decision-making regarding polysomnography guided by evolving clinical presentation rather than diagnosis alone. Support (if any)
Maithili Udupa (Fri,) studied this question.