Differential Diagnosis of Excessive Daytime Sleepiness in an Adolescent Case Report

Keywords

excessive daytime sleepiness - hypersomnia - adolescent

Introduction: Excessive daytime sleepiness (EDS) in adolescents is a debilitating and multifactorial condition, frequently associated with comorbidities such as ADHD, sleep disorders, and mood disorders. This case describes a 16-year-old adolescent with persistent EDS since childhood, with various outcomes and medical evaluations, and without a conclusive diagnosis.

Objective: To evaluate the causes of EDS and contribute to the differential diagnosis.

Methods: The study included interdisciplinary team assessment, medical record review, anamnesis, interviews, polysomnography (PSG), Multiple Sleep Latency Test (MSLT), and diagnostic scales.

Results: Evaluations were conducted by a neuropediatrician, otolaryngologist, psychiatrist, and sleep psychologists. The patient had experienced EDS since childhood, without a conclusive diagnosis and with various psychosocial outcomes due to sleepiness. Subjective and objective diagnostic scales showed: Epworth Sleepiness Scale: 20/24 (excessive sleepiness); Ullanlinna Narcolepsy Scale: 26/30 (suggestive of narcolepsy); Pittsburgh Sleep Quality Index: 7/21 (poor sleep quality); Chalder Fatigue Scale: 7/11 (significant fatigue); PHQ-9: 10/27 (moderate depressive symptoms); GAD-7: 2/21 (minimal anxiety symptoms). PSG revealed a slightly elevated Apnea-Hypopnea Index (AHI = 12.8 events/hour), with 18 central apneas and 89 hypopneas. Sleep latency was 4.8 minutes, with prolonged REM sleep latency (114.5 minutes). MSLT ruled out narcolepsy. In conjunction with the team's clinical evaluations, the diagnosis indicated congenital adrenal hyperplasia and adrenal insufficiency (contributing to EDS due to inadequate cortisol level regulation, exacerbated by prolonged corticosteroid use); Chiari malformation type 1 (interfering with sleep-wake cycle regulation); and central apneas (indicating disruption in central respiratory control, fragmenting sleep and exacerbating EDS). The patient exhibited chronic sleep deprivation, which exacerbated ADHD symptoms and cognitive deficits, also diagnosed. Additionally, depressive symptoms were observed, further aggravating the impact of EDS on the patient's daily life, generating low self-esteem.

Conclusion: Hypersomnia can be multifactorial, requiring an integrated and personalized approach. Early and collaborative interventions among specialists are essential. Strategies including therapeutic adjustments, psychosocial support, and continuous monitoring are crucial for improving quality of life.

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Publikationsverlauf

Artikel online veröffentlicht:
16. September 2025