Case Study (Initial presentation & Case History)

A 32-year-old Caucasian woman came to us with complaints of excessive daytime sleepiness

(EDS). She had no problems with her sleep or general health until two years before, when she
began to experience excessive daytime fatigue. Her condition progressed and at the time of
presentation she was able to sleep for extended periods of time (up to two to three days at a
stretch) and still be hypersomnolent in the day. On questioning, she denied cataplexy, hypnagogic
hallucinations or sleep paralysis. There was no prior history of closed head injury, meningitis or
any focal cerebrovascular symptoms. During her initial diagnostic work-up for fatigue, she was
found to have a mildly elevated TSH (Thyroid Stimulating Hormone) level. She was started on
thyroxine, but her symptoms persisted (in spite of TSH value subsequently returning to normal).
She had been working in an office setting, but quit her job a month before on account of her EDS
and difficulty in concentrating. She stopped driving because she had found herself in the wrong
lane on occasion and not sure how she got there. She is married with two children and there is no
family history of excessive daytime sleepiness. Her periods have been regular throughout the
duration of her condition. There was no change in her appetite. However, she stated she would
drink about 12 cans of caffeinated soft drinks per day. She smokes half a pack of cigarettes a day,
but does not take alcohol or any recreational drugs. Her medications included diphenhydramine for
allergic rhinitis.
 Clinical observations
Physical examination was unremarkable, except that the patient appeared sleepy and yawned several times during
the interview. She was of average height and weight and lean in build. Body temperature was 37.1º C. Visual field-
testing by confrontation revealed no abnormality. There was no clinical evidence of any focal neurological deficit.
The patient underwent a nocturnal polysomnography, followed by a Multiple Sleep Latency Test (MSLT). All
stimulant medications were stopped one week prior to this study. The results were as follows:

Total recording time of 7.5 hours, with a total sleep time of 6.8 hours (sleep efficiency of 90.2%).
1. Latency to sleep onset of 28 minutes; latency to rapid eye movement (REM) sleep of 175.5 minutes.
2. Wakefulness 9.8%, NREM sleep 77%, REM sleep 13.4%.
3. EKG rate of 63 bpm, with no arrhythmia.
4. Mean Sleep Latency of 4.6 minutes.

Based on the clinical picture as well as the above findings, a diagnosis of hypersomnia was made. Treatment was
initiated with methylphenidate 10 mg b.i.d and pemoline 18.5 mg t.i.d. At the prescribed doses, she was not able
to stay alert and would take up to 150 mg of each of these. She subsequently developed edema of the hands and
feet, for which she discontinued methylphenidate. Due to the safety concerns regarding pemoline, she stopped
taking this drug. At the moment, the patient is doing relatively well on modafinil 100 mg b.i.d and
methamphetamine 10 mg t.i.d and can manage some household work in the daytime. She has switched to
cetirizine for her seasonal allergy.
The patient under reference satisfied the diagnostic criteria of PH. Other
conditions were excluded with the help of a detailed history and physical
examination, as well as appropriate laboratory investigations. The patient did not
have any of the cataplexy, hypnagogic hallucinations or sleep paralysis
associated with narcolepsy; nor was there any clinical or radiological evidence of
a structural lesion of the hypothalamus. She did take diphenhydramine
occasionally, but EDS persisted when she switched to cetirizine.
Polysomnography revealed findings consistent with PH: normal sleep time, good
sleep efficiency and reduced Mean Sleep Latency. REM sleep duration was
reduced, probably due to the effect of the patient's stimulant medications.
Neither the sleep latency nor REM latency were decreased, as is the case in
patients with narcolepsy. The myoclonus index was increased without any
accompanying increase in the arousal index, excluding a diagnosis of restless leg
syndrome. No respiratory abnormalities were found to suggest sleep apnea
syndrome.
 Suitable Treatment & Management
The management of PH often requires a multi-pronged approach involving pharmacologic as well as non-
pharmacologic measures. 
Good sleep hygiene is of utmost importance. This involves the following: using the bed for sleep only, avoiding
stimulants such as tobacco and caffeine close to bedtime, limiting fluid intake after 8pm and napping (only if needed)
about eight hours after awakening for a maximum of 25 minutes.
The patient's work situation can be improved if the employer is aware of this condition.
Regular breaks or planned short naps are helpful if the tasks at hand involve immobility or prolonged concentration. The
most suitable work would involve exercise and a stimulating environment e.g., shop assistant, hairdresser or porter.
As far as driving is concerned, the patient has a duty to notify the authorities and his/her insurance company. A license is
usually issued for one to three years, pending a medical report on fitness to drive.
A good strategy would be to nap before driving and to take time stimulant medication (if needed) for optimal alertness
when driving. The patient must pull over and stop driving immediately if he/she feels drowsy. Pharmacotherapy should
only be initiated if the non-pharmacological measures fail. The first line stimulant is caffeine. If increasing the patient's
caffeine intake does not cause any improvement, other drugs such as methylphenidate, d-amphetamine and modafinil
can be tried. Suggested regimens include the use of modafinil on a daily basis, with d-amphetamine taken before
activities requiring alertness. About three-quarters of patients benefit from these stimulant medications.

To summarize, a diagnosis of PH should only be made after carefully ruling out other causes of EDS. With the
appropriate non-pharmacologic and pharmacologic treatment, the quality of life in these patients can be improved to a
great extent.