# Clinical Cases: Sleep Disorders ## Case 1: Chronic Insomnia Disorder ### Patient Demographics - **Age:** 52 years old - **Sex:** Female - **Occupation:** Accountant ### Chief Complaint "I haven't had a good night's sleep in over a year. I dread going to bed because I know I'll just lie there for hours." ### History of Present Illness The patient is a 52-year-old woman presenting with chronic sleep difficulties that began approximately 18 months ago during a stressful period at work (tax season with significant overtime). At that time, she began having difficulty falling asleep due to worry about work tasks. The work stress resolved, but the sleep problems persisted and gradually worsened. Currently, she reports lying in bed for 1-2 hours before falling asleep. Once asleep, she wakes 2-3 times per night and has difficulty returning to sleep. She typically wakes at 4-5 AM and cannot fall back asleep despite not feeling rested. She estimates getting 4-5 hours of broken sleep per night. She feels exhausted during the day, has difficulty concentrating at work, and has made several errors on financial reports. She has become irritable with family and has reduced social activities due to fatigue. Her sleep hygiene has deteriorated as she has tried to compensate for poor sleep: She goes to bed earlier hoping to sleep more (9 PM, though not sleepy). She watches TV in bed to "relax." She naps on weekends for 2-3 hours. She has 3-4 cups of coffee to stay alert, with her last cup around 4 PM. She checks the clock frequently when unable to sleep, which increases her anxiety. She has developed significant anticipatory anxiety about sleep, describing her bed as "a torture chamber." She reports: "As soon as I get in bed, my mind starts racing about whether I'll be able to sleep." ### Past Medical History - Hypertension (controlled) - No history of restless legs symptoms - No snoring, witnessed apneas, or excessive daytime sleepiness suggesting sleep apnea - Denies symptoms of depression (mood remains good, still enjoys activities when not tired) ### Sleep Diary Summary (2-week average) - Time in bed: 9:00 PM - 6:30 AM (9.5 hours) - Sleep onset latency: 90 minutes - Wake after sleep onset: 90 minutes (combined) - Total sleep time: 5 hours - Sleep efficiency: 53% (severely impaired; normal >85%) ### Mental Status Examination **Appearance:** Professional-appearing woman, appears fatigued, dark circles under eyes **Behavior:** Cooperative, anxious when discussing sleep **Speech:** Normal rate and rhythm **Mood:** "Tired and frustrated" **Affect:** Anxious, mildly dysphoric **Thought Process:** Linear, ruminative about sleep **Thought Content:** - Preoccupation with sleep and consequences of insomnia - Catastrophic beliefs: "If I don't sleep tonight, I won't be able to function tomorrow" - No suicidal or homicidal ideation - No psychotic symptoms **Cognition:** Alert, oriented; concentration somewhat impaired **Insight:** Good - recognizes behaviors may be contributing **Judgment:** Good - seeking help appropriately ### Screening Measures **Insomnia Severity Index (ISI):** 22 (clinical insomnia, moderate severity; range 0-28) **Epworth Sleepiness Scale:** 8 (normal range; consistent with fatigue rather than pathological sleepiness) **PHQ-9:** 6 (mild symptoms, likely secondary to insomnia) **GAD-7:** 10 (moderate anxiety, largely sleep-focused) ### Diagnosis **Chronic Insomnia Disorder (F51.01)** **DSM-5 Criteria Met:** A. Predominant complaint of dissatisfaction with sleep quantity or quality with one or more: - Difficulty initiating sleep: YES (90-minute sleep onset latency) - Difficulty maintaining sleep: YES (multiple awakenings, 90 min WASO) - Early morning awakening: YES (4-5 AM awakenings) B. Sleep disturbance causes clinically significant distress or impairment: YES (work errors, irritability, social withdrawal) C. Occurs at least 3 nights per week: YES (nightly) D. Present for at least 3 months: YES (18 months) E. Occurs despite adequate opportunity for sleep: YES (spends 9.5 hours in bed) F. Not better explained by another sleep disorder: NO (no symptoms of apnea, RLS, etc.) G. Not attributable to substance use: NO H. Coexisting disorders do not adequately explain insomnia: YES (anxiety appears secondary to insomnia) **Perpetuating Factors Identified:** - Excessive time in bed - Napping - Late caffeine use - Clock-watching - Screen time in bed - Conditioned arousal (bed associated with wakefulness) - Catastrophic beliefs about sleep ### Treatment Plan **First-Line Treatment: Cognitive Behavioral Therapy for Insomnia (CBT-I)** *Sleep Restriction Therapy:* - Current sleep efficiency: 53% - Prescribed time in bed: 5.5 hours initially (matches approximate total sleep time) - Window: 12:00 AM - 5:30 AM - Do not go to bed until prescribed time, regardless of sleepiness - Get out of bed at 5:30 AM regardless of sleep quality - When sleep efficiency >85% for 5 days, add 15-30 minutes to time in bed *Stimulus Control Therapy:* - Use bed only for sleep and intimacy - Go to bed only when sleepy - If unable to sleep after ~20 minutes, get up and go to another room - Return to bed only when sleepy - No TV, phone, or reading in bed - Maintain fixed wake time 7 days per week - No daytime napping *Sleep Hygiene Education:* - Limit caffeine to morning only (before noon) - Regular exercise (not within 4 hours of bedtime) - Keep bedroom cool, dark, and quiet - Avoid alcohol as sleep aid (disrupts sleep architecture) *Cognitive Therapy:* - Address catastrophic beliefs about consequences of poor sleep - Develop more balanced thoughts: "One bad night won't ruin my day entirely" - Reduce clock-watching (turn clock away from view) - Paradoxical intention: Let go of "trying" to sleep **Pharmacotherapy:** - Not recommended as first-line for chronic insomnia - If needed for temporary relief during initial CBT-I (sleep restriction can temporarily worsen fatigue): - Low-dose trazodone 25-50 mg or - Melatonin 0.5-3 mg, 1-2 hours before bed - Avoid benzodiazepines and Z-drugs long-term (tolerance, dependence) **Follow-up:** - Weekly CBT-I sessions x 6-8 weeks - Sleep diary review at each session - Adjust time in bed based on sleep efficiency - ISI repeated at end of treatment --- ## Case 2: Obstructive Sleep Apnea ### Patient Demographics - **Age:** 56 years old - **Sex:** Male - **Occupation:** Long-haul truck driver ### Chief Complaint Per wife: "He snores so loud I sleep in another room, and he sometimes stops breathing. I'm terrified." Per patient: "I'm just tired all the time." ### History of Present Illness The patient is a 56-year-old man presenting with his wife due to her concerns about his breathing during sleep. She describes loud, disruptive snoring that has progressively worsened over the past 5 years. She has observed him stop breathing for what seems like 20-30 seconds, followed by a loud snort or gasp as he resumes breathing. These episodes occur dozens of times per night. She has moved to the guest room and can still hear him snoring. The patient reports excessive daytime sleepiness. He frequently falls asleep while watching TV, during conversations, and after meals. Most concerning, he has had 3 near-miss accidents while driving his truck in the past year due to drowsiness. He reports difficulty staying awake during long drives and uses caffeine extensively (6+ cups of coffee daily). He naps frequently when parked. He wakes most mornings with a headache that resolves within an hour. He wakes feeling unrefreshed regardless of hours slept. He has noticed difficulty concentrating, memory problems, and irritability. His wife notes personality changes - he has become short-tempered and disinterested in activities. He denies depressed mood. His medical history is significant for obesity, hypertension (requiring 3 medications and still not at goal), and type 2 diabetes (A1c 8.2%). ### Physical Examination **Vital Signs:** - Blood pressure: 156/98 mmHg - Heart rate: 82 bpm - BMI: 38.2 kg/m² (height 5'10", weight 266 lbs) - Neck circumference: 18.5 inches (>17 inches is risk factor in men) **Head and Neck:** - Mallampati Class IV (uvula not visible) - Retrognathia (receding jaw) - Large tongue - Mild tonsillar hypertrophy **Cardiopulmonary:** - Distant heart sounds - No murmurs - Clear lung fields ### Screening Measures **Epworth Sleepiness Scale:** 18/24 (severe sleepiness; >10 abnormal) **STOP-BANG Questionnaire:** - Snoring: YES - Tiredness: YES - Observed apnea: YES - Pressure (hypertension): YES - BMI >35: YES - Age >50: YES - Neck >40 cm: YES - Gender male: YES - Score: 8/8 (high risk for moderate-to-severe OSA) ### Diagnostic Testing **Polysomnography Results:** - Total sleep time: 342 minutes - Sleep efficiency: 78% - Apnea-Hypopnea Index (AHI): 62 events/hour (SEVERE; normal <5) - Oxygen desaturation index: 54 events/hour - Lowest oxygen saturation: 72% - Time SpO2 <90%: 28% of sleep time - Predominant events: Obstructive apneas and hypopneas - Sleep architecture: Reduced REM, increased N1 ### Diagnosis **Obstructive Sleep Apnea, Severe (G47.33)** **Diagnostic Criteria:** A. Polysomnography demonstrates 5 or more obstructive respiratory events per hour AND one or more: - Sleepiness, nonrestorative sleep, fatigue: YES (all present) - Witnessed apneas, snoring, gasping: YES OR ≥15 obstructive events/hour (AHI 62 - exceeds threshold) **Severity:** Severe (AHI >30) **Associated Complications:** - Refractory hypertension (common consequence of untreated OSA) - Poorly controlled diabetes (OSA contributes to insulin resistance) - Excessive daytime sleepiness with occupational safety risk ### Treatment Plan **Urgent Occupational Safety:** - Patient counseled that driving commercially is UNSAFE until treatment established - Letter provided for employer documenting need for medical leave pending treatment - Federal Motor Carrier Safety Administration guidelines reviewed **Primary Treatment: CPAP (Continuous Positive Airway Pressure):** - Gold standard treatment for moderate-to-severe OSA - CPAP titration study scheduled to determine optimal pressure - Once pressure determined, auto-titrating CPAP (APAP) prescribed for home use - Goal: AHI <5 on therapy - Mask fitting session with respiratory therapist **CPAP Adherence Support:** - Education about disease severity and treatment benefits - Ramp feature to increase comfort - Heated humidification to reduce nasal congestion - Mask refitting if needed - Follow-up at 1 week to troubleshoot early **Adjunctive Measures:** - Weight loss: Referral to weight management program - Even 10% weight loss can significantly improve AHI - Consider bariatric surgery consultation given BMI - Sleep position: Sleep on side (supine position worsens OSA) - Avoid alcohol (relaxes airway muscles) - Avoid sedating medications **Medical Management:** - Optimize blood pressure (may improve with OSA treatment) - Continue diabetes management **Alternative Treatments (if CPAP not tolerated):** - Oral appliance (mandibular advancement device) - less effective for severe OSA - Upper airway surgery - ENT referral if anatomic issues - Hypoglossal nerve stimulator (Inspire) - for CPAP-intolerant patients **Follow-up:** - Sleep clinic in 2-4 weeks for CPAP data download - Repeat Epworth Sleepiness Scale - Return to driving only with documented adherence (≥4 hours/night on ≥70% of nights) and AHI <5 on therapy --- ## Case 3: Narcolepsy Type 1 ### Patient Demographics - **Age:** 22 years old - **Sex:** Female - **Occupation:** College senior ### Chief Complaint "I keep falling asleep at random times, and my legs give out when I laugh." ### History of Present Illness The patient is a 22-year-old college senior presenting with a 3-year history of excessive daytime sleepiness and unusual episodes of muscle weakness. Symptoms began during her sophomore year and have progressively interfered with her academics and social life. She describes an overwhelming urge to sleep that occurs multiple times daily, regardless of how much sleep she got the night before. She has fallen asleep during classes, while studying, during meals, and during conversations. The sleepiness is not relieved by caffeine or willpower. She describes brief naps (15-20 minutes) as refreshing, but the sleepiness returns within a few hours. She sleeps 8-9 hours at night but never feels rested. Most notably, she experiences sudden episodes of muscle weakness triggered by strong emotions, especially laughter. When she laughs hard, her knees buckle, her jaw goes slack, and her arms feel weak. She remains fully conscious during these episodes, which last seconds to a minute. She has fallen twice during these episodes but has not been injured. Her roommate witnessed an episode and thought she was having a seizure, but she was aware of her surroundings the entire time. These episodes also occur with surprise, excitement, and anger. She reports vivid, often frightening, hallucinations as she falls asleep (hypnagogic) or wakes up (hypnopompic) - seeing figures in her room or feeling a presence. She has experienced sleep paralysis multiple times, feeling unable to move for 1-2 minutes upon waking, which is terrifying. Her sleep is disrupted with frequent awakenings and vivid dreams. She sometimes acts out dreams (shouting, moving), and her roommate has observed her talking in her sleep. ### Past Medical History - No significant medical history - No history of head injury or infections - Family history negative for sleep disorders ### Mental Status Examination **Appearance:** Young woman, appears tired, yawned several times during interview **Behavior:** Cooperative, briefly appeared to nod off during examination; during joking moment, visible knee buckling briefly observed **Speech:** Normal (when alert) **Mood:** "Frustrated - I feel like I'm sleeping my life away" **Affect:** Appropriate, full range **Thought Process:** Linear, goal-directed **Thought Content:** No suicidal ideation; significant distress about impact on function **Perceptions:** Reports hypnagogic hallucinations (vivid images at sleep onset); denies persistent hallucinations while awake **Cognition:** Alert but had difficulty maintaining attention (drowsy); oriented x3 **Insight:** Good **Judgment:** Good - seeking help ### Screening Measures **Epworth Sleepiness Scale:** 21/24 (severe sleepiness) ### Diagnostic Testing **Nocturnal Polysomnography:** - Total sleep time: 410 minutes - Sleep latency: 3 minutes (rapid) - REM latency: 8 minutes (SOREMP - sleep onset REM period) - AHI: 2 (no significant sleep apnea) - No periodic limb movements **Multiple Sleep Latency Test (MSLT - following night PSG):** - 5 nap opportunities at 2-hour intervals - Mean sleep latency: 4.2 minutes (pathologic; <8 minutes indicates pathological sleepiness) - Sleep onset REM periods (SOREMPs): 4 of 5 naps - Criteria for narcolepsy: Mean latency <8 minutes AND ≥2 SOREMPs ### Diagnosis **Narcolepsy Type 1 (with Cataplexy) (G47.411)** **DSM-5 Criteria Met:** A. Recurrent periods of irrepressible need to sleep, lapsing into sleep, or napping occurring within same day - multiple times daily for >3 months: YES B. Presence of at least one of the following: 1. Cataplexy (defined as brief episodes of sudden bilateral loss of muscle tone with maintained consciousness, precipitated by laughter or joking): YES - classic cataplexy triggered by laughter 2. CSF hypocretin-1 deficiency: Not tested (cataplexy is diagnostic) 3. Nocturnal PSG showing REM latency <15 min OR MSLT showing mean sleep latency <8 min and ≥2 SOREMPs: YES (sleep latency 4.2 min with 4 SOREMPs) **Type 1 vs Type 2:** - Type 1: Cataplexy present (this patient) - Type 2: No cataplexy **Associated Features Present:** - Hypnagogic hallucinations - Sleep paralysis - Disrupted nocturnal sleep ### Treatment Plan **Patient Education:** - Chronic neurological condition (autoimmune destruction of hypocretin neurons) - Manageable but not curable - Symptoms can be significantly controlled with treatment - Lifestyle adjustments needed long-term **Pharmacotherapy for Excessive Daytime Sleepiness:** - **Modafinil 200 mg every morning** (first-line wake-promoting agent) - May increase to 200 mg BID if needed - Monitor for headache, nausea - Drug interaction: Reduces efficacy of oral contraceptives **Pharmacotherapy for Cataplexy:** - **Venlafaxine 37.5 mg daily** (SNRI - suppresses REM and reduces cataplexy) - Increase to 75 mg if needed - Do not stop abruptly (can cause severe rebound cataplexy) **Alternative Medication (if above inadequate):** - **Sodium oxybate** - FDA-approved for both sleepiness and cataplexy - Highly effective but controlled substance - Requires REMS program enrollment - Taken at bedtime and 2.5-4 hours later **Behavioral Strategies:** - Scheduled brief naps (15-20 minutes) 2-3 times daily - Regular sleep schedule - Avoid sleep deprivation (worsens all symptoms) - Avoid alcohol (worsens sleepiness and cataplexy) **Safety Considerations:** - Driving safety: May need to restrict driving until treatment effective - Swimming, heights - avoid during uncontrolled periods - ID bracelet recommended **Accommodations:** - Academic accommodations (extended time, permission to nap between exams) - Letter provided for disability services **Follow-up:** - Sleep clinic in 4 weeks to assess treatment response - Epworth Sleepiness Scale at each visit - Adjust medications based on residual symptoms - Long-term management with regular follow-up --- ## Image Attribution ![Sleep Architecture Diagram](case_01_image.jpg) *Image: Hypnogram showing normal sleep architecture with cycles through N1, N2, N3, and REM sleep stages across a typical night. Source: Wikimedia Commons. Used for educational purposes under Creative Commons license.*