Sleeping beauty syndrome presenting with insomnia

Abstract

A young man previously diagnosed with Kleine-Levin syndrome (KLS) presented with abnormal behaviour over the last 8 days. This included decreased sleeping hours and appetite, hypersexuality, aggressiveness and visual hallucinations. All blood tests and investigations in the emergency department yielded normal results. A preliminary diagnosis of a KLS episode with psychosis was made and the patient was started on a regimen of aripiprazole 10 mg once daily along with lorazepam 2 mg intravenously in two divided doses in the event of agitation or insomnia. On discharge 5 days later, the patient had returned to his premorbid level of functioning and was willing to follow up in the neurology clinic. He was discharged on aripiprazole 10 mg once daily and lorazepam 2 mg two times daily as needed for 2 weeks to help with his agitation and insomnia, as well as lithium carbonate 400 mg at night.

Background

Diagnosing Kleine-Levin syndrome (KLS) may be initially challenging as it may be confused with many other psychiatric conditions due to the nature of its presentation. Characteristically and historically, the presentation usually includes a triad of hyperphagia, hypersomnia and hypersexuality.¹ In our case, the patient presented paradoxically with hyposomnolence and decreased appetite in addition to hypersexuality and psychosis during an episode. While sleep deprivation is not entirely unheard of among cases of KLS, it is a very uncommon presentation of what is already a rare disease.^2–5

Case presentation

A 16-year-old man previously diagnosed with KLS presented to the emergency department with an 8-day history of abnormal behaviour. The family’s primary concern at the time of the patient’s admission included significantly decreased sleeping hours and appetite, hypersexuality, excessive religious thoughts in addition to vivid visual hallucinations. He slept only for a few hours in one night and has not been able to sleep otherwise during this duration. According to his parents, his school attendance has been decreasing steadily for a while before the onset of symptoms and he is becoming increasingly aggressive.

The patient has a history of frequent relapses which first started after his initial diagnosis at the age of 9 years. Relapses are characterised by derealisation, followed by a brief period of apathy and eventually ending with hypersomnia lasting several hours. Each episode was of a variable duration, spanning between 10 and 21 days and consequently subsiding without any medical intervention. During previous relapses, there were no symptoms of hypophagia, aggression, hypersexuality or insomnia as in the current event.

He experienced four episodes in last 6 months, each separated by a symptom-free interval of 5–6 weeks. His family attempted alternative natural or spiritual treatments in between his episodes, which proved to be unsuccessful. His parents isolated several precipitating factors such as illness, long distance overseas journeys, seasonal festivities and end of semester school examinations.

His medical history revealed preterm vaginal delivery with perinatal care in the neonatal intensive care unit for 1 month. At the age of 10 years, he was diagnosed with epilepsy which was managed with sodium valproate and tapered gradually until its discontinuation at the age of 15 years. He is also known to be allergic to penicillin and clarithromycin. Otherwise, his medical and family history is unremarkable. He is not currently taking any medication. He is currently not sexually active and maintains average performance in school. There was no history of nicotine dependence, trauma, alcohol or drug use.

On examination, the patient was conscious and alert, with average hygiene and fair eye contact. He was sitting upright, intermittently crying and generally appeared anxious with visibly poor concentration. He was reluctant to cooperate throughout the examination procedure and responded to questions by talking irrelevantly in a different language. He also had some episodes of aggressive behaviour secondary to vivid visual hallucinations while in the emergency department.

He was then admitted in the psychiatry department for management of his catatonic behaviour and a running diagnosis of brief psychotic episode was made with an underlying precipitant factor due to his pre-existing KLS. He was placed under the joint care of both the neurology and psychiatry department due to the nature of his presentation.

Investigations

The patient was subjected to several blood investigations and imaging modalities to rule out a more organic cause for his clinical deterioration. All investigations, including a non-contrast CT of the brain yielded normal results.

Differential diagnosis

Specialist teams, which included a child psychiatrist, were consulted to rule out a primary psychiatric disorder. There was no medical or family history of any psychiatric disorders.

All conducted investigations to rule out a more organic disorder for his condition, including a space occupying lesion in the brain yielded normal results.

Treatment

He was started on a regimen of aripiprazole 10 mg once daily along with lorazepam 2 mg intravenously in two divided doses in the event of agitation or insomnia. After 4 days of inpatient care, he had eventual full return to premorbid level of functioning. On discharge 5 days later, he displayed no symptoms that could be attributable to a mood disorder and was maintaining his baseline personality with no concerning psychiatric presentations. He was discharged on aripiprazole 10 mg once daily for 2 weeks and lorazepam 2 mg two times daily as needed for 2 weeks to help with his agitation and insomnia, as well as lithium carbonate 400 mg at night.

Outcome and follow-up

A psychiatry clinic follow-up after 1 week was reassuring and the patient reported no further symptoms. His lithium carbonate dose was gradually increased over 1 week to 800 mg once a day and was maintained at this level until his second follow-up visit which occurred after 1 month of discharge. Since he was tolerating this dose with no adverse effects, his lithium carbonate dose was then increased to its optimum regimen of 1 g once daily. Patient regularly followed up in the clinic for a period and was doing well on the latter dose, with no side effects. He is now following up with the neurologist in his home country for his condition.

Discussion

KLS is a rare sleep disorder that was first isolated as a separate diagnosis in the 20th century.^{6 7} The syndrome comprises a myriad of relapsing and remitting symptoms that usually include cognitive impairment, apathy and derealisation in addition to the primary symptom of increased somnolence.^{1 2} Occasionally, other rarer features can present during the relapses which may include psychiatric symptoms and a variation in the symptoms mentioned above. Our case highlights insomnia as a presentation of a Kleine-Levin relapse.

KLS is a neurological disorder that affects about 1–5 per million individuals. The syndrome tends to asymmetrically affect more men than women.^2–4 While it is underlying pathophysiology is still being investigated, KLS has been hypothesised to have either hormonal or autoimmune influences, or a combination of both.⁸ Theories regarding genetic factors have been put forward, and a study in a KLS facility found that a quarter of their patients had a complicated birth history which is also relevant in our patient.^{3 9}

KLS presents in bouts of symptomatic episodes that are usually preceded by an identifiable triggering event. These events can typically range from an infection to alcohol intake or head trauma.¹ Episodes usually last from days to weeks and in between these episodes patients tend to be asymptomatic. However, a childhood onset has been linked to having more frequent relapses; children usually get a moderately severe form of KLS that either presents with more frequent monthly episodes that last a few days or fewer, but of a longer duration.¹ Male gender and diagnosis early in life has an overall higher probability to remain unresolved after the age of 25.^{1 9}

The syndrome, especially in its atypical form, is often misdiagnosed as either a case of depression, bipolar, psychosis, seizures or intoxication.¹ Differentiating between these conditions may be difficult, but it is essential to rule out a primary psychiatric condition that can present in a similar manner. In general, a characteristic chronology is important, as patterns of similar problems that may be observed over the course of the patient’s life can help elude a more medical basis for the presentation. On the other hand, some factors that may aid in excluding a functional psychosis include the following:

Knowledge of the course of illness, the personal as well as the family history are all essential factors in determining the possibility of an underlying medical stimulant for the psychiatric episode. Our patient had no history of psychiatric problems. Most importantly, he had never displayed symptoms suggestive of a manic or depressive episode. This, in conjunction with his lack of family history, absence of a typical chronological pattern, as well as sudden onset and offset of symptoms makes a diagnosis of a mood disorder such as bipolar disease more unlikely.¹

Other psychiatric differentials that are important to consider include ego syntonic conditions like the schizophrenia spectrum of diseases. However, patients with schizophrenia are known to have some degree of cognitive decline in between relapses, which was not observed in our patient. Following the episode, he quickly regained his baseline level of functionality and cognition and was eager to follow up in the clinic as necessary to maintain continuity of care.¹⁰ More importantly, during his entire episode, he managed to maintain full insight regarding the nature of his condition and was both compliant and concordant towards his medical management. At the time of presentation, his display of emotions was observed to be both reactive and labile if rather irritable. This also favours a more organic basis for his psychosis, unlike the flat affect that may be observed in patients with schizophrenia. Additionally, the presence of vivid visual hallucinations is unusual for functional psychosis and is rather more indicative of an underlying medical basis for the presenting symptoms.¹¹

Other psychiatric conditions, such as anxiety, eating disorders and phobias like obsessive compulsive disorder, were not found to be of relevance in this patient. Hence, a diagnosis of psychosis secondary to a medical condition was deemed to be most likely during his workup in the hospital.

Management after diagnosis may be challenging as not enough large double blinded studies have been performed to test the efficacy of the regimens advised, although a consensus advocating for the use of lithium for the management of frequent or debilitating episodes does exist. Some physicians have used stimulants such as amphetamines, although with caution, as their use may worsen episode induced psychiatric symptoms. Alternatively, the use of amantadine has been suggested to reduce the duration of the episode. These are all in addition to more conservative treatments like maintaining a healthy sleep cycle, avoiding known triggers and reducing unnecessary stressful factors.¹ After the initial diagnosis is confirmed, a multidisciplinary approach is usually recommended to provide the best level of care possible.

Learning points.

• Kleine-Levin syndrome (KLS) is a rare neurological syndrome that classically presents with a triad of hyperphagia, hypersomnia and hypersexuality.

• KLS may also, however, present with lesser common features including paradoxically decreased sleeping and eating habits.

• While the syndrome is usually managed with symptom control and the avoidance of triggers, a trial of lithium may be attempted in certain cases.