Differential Diagnosis Explained Paper
This has to be sleep related, subject can be chosen “excessive sleepiness” or “insomnia”
To further differentiate what kind of ES this patient is experiencing, if it’s a narcolepsy, what type of narcolepsy and so on…
Or Insomnia, to go through idiopathic insomnia, paradoxical or psychophysiological…
The topic of the paper is \”differential diagnosis.\” Please describe a flow/course of an appropriate differential diagnosis for signs and symptoms (of your choice). The paper should consist of the following 5 sections. You may pick any medical/clinical conditions as long as you follow an appropriate/valid flow of a \”differential diagnosis.\” The contents of the presentation can be fictional or based on real events.
1) Describe signs and/or symptoms
2) Provide at least two possible diagnoses for #1 (describe the nature of the disorders/diseases and their significance to the signs/symptoms).
3) The plan/course to identify the correct diagnosis (description of the tests/evaluations to perform and reasons)Differential Diagnosis Explained Paper
4) Tests/evaluation results and the final diagnosis.
5) Treatment
Fictional Case Study
R.K is a 57-year-old male who presented with a history of excessive daytime sleepiness (EDS) for the last one year. The symptom was preceded by a sudden onset of ES especially when reading a newspaper, talking on the phone, watching TV, or working on the computer, and was reportedly drowsy when driving. To remain awake, he engaged in activities such as exercising, wall painting or listening to loud music when driving. Two months earlier before visiting the sleep clinic, R.K started having cataplexy attacks which varied significantly based on his emotional state. It ranged from five per day to more than 15 in five minutes. The episodes frequently occurred when he watched TV shows that were emotionally laden and triggered by activities such as anger, sharing jokes, and bowling. Averagely, the symptoms lasted for 5-6 seconds to a maximum of twenty seconds.
During the cataplexy episodes, the patient’s shoulders and face drooped, he was immobile with weakness of the lower limbs and emotionless. Once an attack started, he could not resist it but he learned how to prevent them by evading emotional situations. R.K also reported having visual hallucinations of seeing crocodiles and snakes when waking up from sleep although she denied having sleep paralysis. Although R.K reported no difficulties in initiating sleep, he reportedly woke severally during the night. His PMH (past medical history) was positive for generalized seizures that lasted a few seconds. These seizures were associated with fever at 7 years old (febrile seizures). However, he didn’t have a history of restless legs syndrome, flu-like illness, head injury, or sleep apnea. He also denied illicit or recreational drug use or recent stressors.
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Signs and Symptoms of Excessive Sleepiness
According to the American Psychiatric Association (2013), patients presenting with excessive sleepiness will report the following signs and symptoms; a history of feeling extremely sleepy for at least 1-3 months. This can be evidenced by episodes of sleep during daytime or prolonged episodes of sleep occurring at least thrice a week. There will also be a history of the episodes of ES causing distress and impairing occupational, physical, and social functioning The ES will less likely be accounted for by insomnia, not happen in the course of another sleep disorder, and cannot be accounted for by inadequate sleep. Often, these symptoms may not be due to an underlying medical condition or physiological effects. Similarly, patient R.K presented with a history of EDS that had persisted for one year which impaired his social functioning and ability to efficiently perform various ADLs. The patient did not have an underlying sleep disorder or medical condition and denied having any stressors and use of illicit and recreational drugs.
Possible Diagnoses
Narcolepsy with cataplexy-patients report having EDS, cataplexy episodes that occurr for 5-6 seconds, and bilateral muscle tone loss that was triggered by activities such as joking and anger. Patients with narcolepsy with cataplexy experience transient and abrupt episodes of muscle hypotonia and atonia that are triggered by intense emotions. Most patients develop concerns on how EDS cause immense emotional and psychological distress and impair physical and social functioning. He however denied having an underlying medical or sleep disorder or illicit drug use that may influence the symptoms. Based on the guidelines provided by the American Psychiatric Association (2013) to diagnose mental disorders, these symptoms meet the diagnostic criteria of narcolepsy with cataplexy. Differential Diagnosis Explained Paper
Figure 1: sudden, emotionally triggered episodes of muscle weakness, and preserved consciousness that spreads to muscles of the limbs and trunk in cataplexy
Source: Scammell, T. E. (2015). Narcolepsy. New England Journal of Medicine, 373(27), 2654-2662.
Idiopathic primary hypersomnia-R.K presented with symptoms of ES (hypersomnolence) with frequent episodes of daytime sleep despite having sufficient daytime naps and night time sleep. The naps are less refreshing and longer, and associated with disorientation, confusion when awakening, and hypnagogic hallucinations. He however denied having difficulties initiating sleep after abruptly waking up during the night, which had persisted for one year. He admitted that these symptoms caused immense distress and impaired his physical and social functioning but denied having an underlying medical or sleep disorder or illicit drug use that may influence the symptoms. According to the American Psychiatric Association (2013), these symptoms partly meet the diagnostic criteria for idiopathic primary hypersomnia. However, patients with primary hypersomnia may also report less interrupted and longer nocturnal sleep with less refreshing and longer episodes of daytime sleep, and no dreaming during the daytime naps.
Sleep apnea-excessive Sleepiness-patients present with a chief complaint of EDS that has persisted for more than three months with other identifiable cause. Patients can also acknowledge taking brief and repetitive naps that last between 10-20 minutes and improves after awakening. Other patients may report of sudden and irresistible sleep episodes that happen abruptly making an individual to sleep during inappropriate circumstances and places.
Narcolepsy- Type 2- patients present with cataplexy like symptoms such as muscle weakness and long episodes of tiredness that are potentially triggered by exercise. Patients will also report less symptoms of sleep fragmentation sleep hallucinations and sleep paralysis, they have normal CSF hypocretin-1 levels, and negative HLA typing.
Hypersomnia secondary to substance or drug use: patients have a history of abuse or use of sedative-hypnotics or sudden withdrawal from stimulants resulting in symptoms of EDS.
Plan to Identify the Correct Diagnosis
To identify the correct diagnosis, it will be important to administer the Epworth Sleepiness Scale (ESS). This is a self-administered questionnaire that clinicians use to assess patients for daytime sleepiness, which might be a sign of a sleep disorder or other underlying medical illnesses. This instrument has eight questions that a patient must rate based on his chances of falling asleep while engaging in different activities. The scores assigned to each activity range from 0-3 thus, the overall score can range from 0-24. An overall score of 0-10 indicates a normal range of sleepiness, 11-14 mild, 15-17 moderate, and 18-24 severe sleepiness. Scores higher than 11 indicate excess daytime sleepiness and may be a sign of the following sleep disorders; sleep apnea, hypersomnia, or narcolepsy.
It will also be necessary to do an overnight PSG (polysomnogram) in evaluating potential abnormalities in the patient’s wakefulness or sleep. An overnight PSG will be adequate to determine the following body functions (eye movement, brain activity, heart rhythm, and muscle activation) during sleep and rule out the potential of sleep apnea. It will also be important to do a brain MRI and CT scan that will help to rule out other secondary causes of chronic insufficient sleep. Narcolepsy with cataplexy can be diagnosed by a patient’s history where a patient presents with a history of EDS for more than three months. It will also be important to order for a CSF hypocretin, a vigilance test, and HLA typing.
Tests/Evaluation Findings and Final Diagnosis
Findings
The patient’s Epworth Sleepiness Scale (ESS) score was 24/24, indicating severe EDS. The overnight PSG revealed that her REM sleep latency was 5.5 minutes but without periodic movements of the limb and sleep apnea when sleeping. According to the MSLT findings, the patient had severe daytime sleepiness with the onset of sleep during REM periods (SOREM) in all four naps the CSF hypocretin was low.Differential Diagnosis Explained Paper
Final Diagnosis
Based on the patient’s history of frequent cataplexy, a short REM latency in the overnight polysomnogram, hypnopompic hallucinations, four SOREMs during an MSLT, 24/24 EDS score, and a short mean sleep onset latency (2.7min), the most likely diagnosis is narcolepsy with cataplexy. It is also important to note that the onset of this patient’s symptoms was at 57 years and a diagnosis of narcolepsy with cataplexy past 40 years of age is rare hang, M., (Inocente et al., 2020). This implies that the most likely cause of this patient’s late-onset symptoms were neurological. However, since the brain MRI and CT scans revealed no abnormalities, it is possible that his EDS worsened due to advanced age that contributed to insufficient sleep.
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Figure 1: Narcolepsy
Source: Kornum, B. R., Knudsen, S., Ollila, H. M., Pizza, F., Jennum, P. J., Dauvilliers, Y., & Overeem, S. (2017). Narcolepsy. Nature reviews Disease primers, 3(1), 1-19. https://doi.org/10.1038/nrdp.2016.101
Treatment/Management
The management of narcolepsy with cataplexy takes a pharmacological and non-pharmacological approach. The pharmacological approach includes prescribing agents that suppress REM sleep. In this patient’s case, the most appropriate drug will be modafinil 200mg PO OD for four weeks to improve EDS (Abad & Guilleminault, 2017). The non-pharmacological management approach will include cognitive behavioral therapy. As stated by Franceschini et al (2019), CBT will help the patient to maintain a regular sleep schedule (7-8 hours of sleep in a night), providing psychological and emotional support and addressing any other underlying psychosocial issues that may hinder regular sleep patterns.
References
American Psychiatric Association. (2013). Diagnostic and statistical manual of mental disorders (5th ed.). Arlington, VA: American Psychiatric Publishing.
Abad, V. C., & Guilleminault, C. (2017). New developments in the management of narcolepsy. Nature and science of sleep, 9, 39.
Franceschini, C., Pizza, F., Antelmi, E., Folli, M. C., & Plazzi, G. (2019). Narcolepsy treatment: pharmacological and behavioral strategies in adults and children. Sleep and Breathing, 1-13.
Zhang, M., Inocente, C. O., Villanueva, C., Lecendreux, M., Dauvilliers, Y., Lin, J. S., & Franco, P. (2020). Narcolepsy with cataplexy: Does age at diagnosis change the clinical picture?. CNS neuroscience & therapeutics, 26(10), 1092-1102.Differential Diagnosis Explained Paper