Raymond is a 36-year-old widower who sought help at a sleep disorders center after reading about excessive daytime sleepiness (EDS) in the newspaper.
History of Previous Illness: Raymond has needed to nap 2-3 times per day since he was about 17 years old, despite typically sleeping about 8 hours per night.
Past Medical History: Blood tests assessing thyroid and other endocrine functions, and evaluations for allergies and psychological health, have not produced significant findings.
Treatment History: A psychotherapy trial 2 years ago did not uncover a cause for Raymond “laziness.”
Social History: Widowed with two teenage daughters.
Family History: Raymond’s father has suffered from lifelong excessive sleepiness, and a cousin has been diagnosed with narcolepsy.
Review of Sleep Patterns: Raymond sleeps about 8 hours per night, but is often disturbed by short awakenings. Although he awakens for the day refreshed, within 1-3 hours he becomes sleepy. For the remainder of the day, he rarely feels adequately refreshed and alert. As a child, Raymond’s naps were the cause of frequent ridicule and he has been falsely berated as an adult for being profusely lazy. As a self-employed farmer, his repeated 10-15 minute daytime naps do not interfere severely with his work.
Raymond reported that attempting to discipline his daughters leaves him “overwhelmed with weakness” and requires him to sit down. He has attempted to fight this weakness by remaining standing but instead collapses onto the floor from “the clumsiness that often overcomes me when I am mad at the kids.” More recently, this same feeling of weakness has occurred while he was laughing or when he was startled.
Evaluation and Diagnosis: Following the intake interview, Raymond was evaluated by polysomnography (PSG) and the multiple sleep latency test (MSLT). PSG revealed a sleep-onset REM episode immediately upon falling asleep, frequent awakenings, and excessive amounts of stage 1 sleep. The MSLT results, on the day following his PSG, showed a mean sleep latency of 4.6 minutes and 3 sleep-onset REM periods. Raymond was diagnosed with narcolepsy with cataplexy based on his laboratory results combined with his clinical history of sudden-onset “weakness.”
Treatment and Follow-up
Modafinil was titrated up to 400 mg qAM with little effect. Raymond was switched to methylphenidate, and the dose was gradually increased to 20 mg TID. He reported improved wakefulness that lasted about 2.5 hours post-dosing, followed by a more profound sleepiness before he could take his next dose. A trial of extended-release methylphenidate was initiated, and Raymond was gradually increased to 40 mg qAM. Once stabilized on this dose, Raymond maintained adequate but incomplete alertness throughout the day. Attempts to treat his episodes of narcolepsy with cataplexy (gamma-hydroxybutyrate) resulted in unmanageable side effects (headaches and dizziness), and Raymond decided to manage his cataplexy using behavioral strategies, including regular napping but no medications.