Title of the article: “ Case Report of Secondary Narcolepsy presenting as self-inflicted genital injury ”
Abstract: Primary Narcolepsy is a sleep disorder with classical presentation showing tetrad of excessive daytime sleepiness, cataplexy, sleep paralysis, and Hypnogogic hallucinations. Some conditions that result in secondary narcolepsy include traumatic brain injury, tumors, and stroke. 
A rare case of secondary narcolepsy was seen in a patient with self-inflicted genital injury. A 30 year old male was referred to Psychiatry from Surgery for a self-inflicted incised wound on hydrocoele. Since last 1 year, he had multiple episodes of — 1. Sudden falls while working 2. Sleep during daytime often at unusual places 3. Periods of unresponsiveness during which he was aware but unable to move. During hospital stay, daytime somnolence, sleep paralysis and cataplexy were noted several times, but hallucinations were not consistently reported. Based on DSM-IV-TR Narcolepsy was diagnosed. Possible reasons for genital injury were 1. To remove fluid from swelling 2. Under sleep paralysis 3. Under Hypnogogic hallucinations. Patient’s EEG was normal. MRI brain showed Gliosis at cervico-medullary junction.MRI spine was advised to examine the cervico-vertebral junction but patient was lost to follow-up. But from history and investigations, it was concluded that he had secondary narcolepsy due to traumatic brain injury.
Narcolepsy typically begins in the 2nd and 3rd decades of life and negatively impacts the quality of life of affected patients. Diagnosis relies on patient history and objective data gathered from polysomnography and multiple sleep latency testing. Treatment focuses on symptom relief through medication, education, and behavioural modification.
Key-words: Cataplexy; Narcolepsy; Polysomnography; Self inflicted injury,
Key Messages [D1]:Secondary narcolepsy is rare and sometimes can be missed to diagnose. Such rare presentation of secondary narcolepsy helps in diagnosing other cases of self-inflicting injuries. Introduction:[D2] Narcolepsy is neither a type of epilepsy nor a psychogenic disturbance. It is an abnormality of the sleep mechanisms specifically, REM-inhibiting mechanisms and it has been studied in dogs, sheep, and humans. Narcolepsy can occur at any age, but it most frequently begins in adolescence or young adulthood, generally before the age of 30. The disorder either progresses slowly or reaches a plateau that is maintained throughout life.. The prevalence of narcolepsy varies across countries and with different ethnic groups, and so the exact prevalence is not known. Prevalence estimates have been reported to be between 168 and 799 per 100,000 in most studies, although Japanese studies have indicated a higher prevalence of 1600 per 100,000.[2,3]. There are no genetic tests currently available for clinical use to make a positive diagnosis of narcolepsy. Genetic testing may correlate best to narcolepsy when there is already clear cataplexy..
Supporting the evidence for an environmental influence is the fact that the disease is not apparent at birth, but instead commonly has its onset during the second decade of life. Additionally, there are apparent precipitating factors such as head trauma, infection, and changes in sleep-waking habits that have been identified in some cases. Chronic, daytime sleepiness is a major, disabling symptom for many patients with traumatic brain injury (TBI), but thus far, its aetiology is not well understood. Extensive loss of the hypothalamic neurons that produce the wake-promoting neuropeptide hypocretin (orexin) causes the severe sleepiness of narcolepsy, and partial loss of these cells may contribute to the sleepiness of Parkinson disease and other disorders. One study has found that the number of hypocretin neurons is significantly reduced in patients with severe TBI. This observation highlights the often overlooked hypothalamic injury in TBI and provides new insights into the causes of chronic sleepiness in patients with TBI. Amphetamine usage has been associated with addiction, psychosis and self-injurious behaviour. There are reports on two patients who severely and repeatedly mutilated their own genitalia while intoxicated on amphetamines and consider possible diagnostic aetiologies. Genital mutilation is common in males compared to females. But narcolepsy presenting as self inflicted genital injury has not been reported so far. That is why this is a rare case.
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Case History[D3]: A case of secondary narcolepsy was seen in a patient presenting as self-inflicted genital injury. A 30 year old Hindi speaking illiterate male was referred to Psychiatry from Surgery for a self-inflicted incised wound on hydrocele. After primary wound closure at surgical side, patient was taken transfer to Psychiatry for detailed assessment. When detailed history was obtained from patient’s elder brother and father, it was found that since last 1 year, he had multiple episodes of sudden falls while working at kitchen as he was a cook. He used to sleep during daytime often at unusual places like in the courtyard, once over the road and sometimes in bathroom. Patient also had periods of unresponsiveness during which he was aware but unable to move himself even on painful stimulation. During hospital stay, daytime somnolence, sleep paralysis and cataplexy were noted several times, but hallucinations were not consistently reported. Based on DSM-IV-TR Narcolepsy was diagnosed. Possible reasons for genital injury were 1. To remove fluid from swelling 2. Under sleep paralysis 3. Under Hypnogogic hallucinations. Patient’s EEG was normal. MRI brain showed Gliosis at cervico-medullary junction.MRI spine advised to examine the cervico-vertebral junction but patient was lost to follow-up. But from history and investigations, it was concluded that he had secondary narcolepsy due to traumatic brain injury
Discussion: Narcolepsy is a condition characterized by excessive sleepiness, as well as auxiliary symptoms that represent the intrusion of aspects of REM sleep into the wakingstate. The sleep attacks of narcolepsy represent episodes of irresistible sleepiness, leading to perhaps 10 to 20 minutes of sleep, after which the patient feels refreshed, at least briefly. They can occur at inappropriate times (e.g., while eating, talking, or driving and during sex). The REM sleep includes Hypnogogic and Hypnopompic hallucinations, cataplexy, and sleep paralysis. The appearance of REM sleep within 10 minutes of sleep onset (sleep-onset REM periods) is also considered evidence of narcolepsy. The disorder can be dangerous because it can lead to automobile and industrial accidents.
Other symptoms include Hypnogogic or Hypnopompic hallucinations, which are vivid perceptual experiences, either auditory or visual, occurring at sleep onset or on awakening. Patients are often momentarily frightened, but within a minute or two they return to an entirely normal frame of mind and are aware that nothing was actually there. Here patient had symptoms of narcolepsy after head injury and patient himself injured his scrotum with sharp blade for which he had no clear memory and there was no history suggestive of epilepsy so diagnosis of secondary narcolepsy presenting as self-inflicted genital injury was considered.In this case, patient showed clinical features of narcolepsy as diagnosed by DSM- IV which was secondary type as there was history of multiple falls and MRI brain showed gliosis. But in this case, unusual presentation was genital self-inflicted injury.
Possible reasons for genital injury are:
- Automatic behavior.
- Acting on Hypnogogic/Hypnopompic hallucinations.
- Due to impaired cognitive function/ judgment due to long-standing Narcolepsy.
No cure exists for narcolepsy, but symptom management is possible. A regimen of forced naps at a regular time of day occasionally helps patients with narcolepsy and, in some cases, the regimen alone, without medication, can almost cure the condition. When medication is required, stimulants are most commonly used.
Although drug therapy is the treatment of choice, the overall therapeutic approach should include scheduled naps, lifestyle adjustment, psychological counselling, drug holidays to reduce tolerance, and careful monitoring of drug refills, general health, and cardiac status.
1. Narcolepsy: Clinical features, co-morbidities & treatment Jeremy Peacock & Ruth M. Benca Indian J Med Res 131, pp 338-349: 2010
2. Longstreth WT, Jr., Koepsell TD, Ton TG, Hendrickson AF, van Belle G. The epidemiology of narcolepsy. Sleep 2007; 30 : 13-26.
3.Tashiro T, Kanbayashi T, Iijima S, Hishakawa Y. An epidemiological study on prevalence of narcolepsy in Japanese. J Sleep Res 1992; (Suppl 1) : 228.
4. Bourgin P, Zeitzer JM, Mignot E. CSF hypocretin-1 assessment in sleep and neurological disorders. Lancet Neurol 2008; 7 : 649-62
5. Krahn LE, Pankratz VS, Oliver L, Boeve BF et al, Narcoleptic and schizophrenic hallucinations. Implications for differential diagnosis and pathophysiology. Eur J Health Econ. 2002; 3 (Suppl 2) : S94-8.
6. Bourgin P, Zeitzer JM, Mignot E. CSF hypocretin-1 assessment in sleep and neurological disorders. Lancet Neurol 2008; 7 :649-62.
7. Christian R. Baumann MD, Claudio L. Bassetti MD, Philipp O. Valko MD, Johannes Haybaeck MD,et al “Loss of hypocretin (orexin) neurons with traumatic brain injury”.
8. Joshua A. Israel and Kewchang, Lee Article first published online: ” Amphetamine usage and genital self-mutilation.” 2002 DOI:10.1046/j.1360-0443.2002.00230.x
9. MartinT.·GattazW.F, Psychiatric Aspects of Male Genital Self-Mutilation.Psychopathology; 24:170–178,1991.
10. synopsis of psychiatry 10th edition
- Case series of genital mutilation :The Journal of Urology150(4):1143-1146] 1993.
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