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Kleine-Levin syndrome: clinical case and diagnosis difficulties

Abstracts

The authors describe the Kline-Levin Syndrome (KLS) and point out the difficulties regarding its diagnosis. A clinical case of a 16-year-old boy diagnosed and followed by the authors is presented. Although having the classic trilogy (hypersomnolence; hyperphagia; hypersexuality), this is an illustrative case of such difficulties under several distinct clinical forms. Causes and consequences raised by diagnostic difficulties are discussed, with special attention to aspects concerning differential diagnosis.

Kleine-Levin syndrome; hypersomnolence; hyperphagia; hypersexuality; clinical case; differential diagnosis


Os autores descrevem a síndrome de Kleine-Levin e referem as dificuldades de seu diagnóstico. Apresentam um caso clínico de um rapaz de 16 anos de idade, que tiveram a ocasião de diagnosticar e de acompanhar e que, embora manifestando a trilogia clássica (hipersônia, hiperfagia e hipersexualidade), é ilustrativo dessas dificuldades sob várias formas clínicas. Discutem as causas e as conseqüências colocadas pelas dificuldades de diagnóstico, prestando uma atenção especial aos aspectos de diagnóstico diferencial.

Síndrome de Kleine-Levin; hipersônia; hiperfagia; hipersexualidade; caso clínico; diagnóstico diferencial


CASE REPORT

Kleine-Levin syndrome: clinical case and diagnosis difficulties

Dênio LimaI; José Antônio Zagalo-CardosoII

IPhD, Medicine. Associate professor, Universidade de Brasília, Brasília, DF, Brazil

IIPhD, Health Psychology. Professor, Faculdade de Psicologia e de Ciências da Educação, Universidade de Coimbra, Coimbra, Portugal

Correspondence

ABSTRACT

The authors describe the Kline-Levin Syndrome (KLS) and point out the difficulties regarding its diagnosis. A clinical case of a 16-year-old boy diagnosed and followed by the authors is presented. Although having the classic trilogy (hypersomnolence; hyperphagia; hypersexuality), this is an illustrative case of such difficulties under several distinct clinical forms. Causes and consequences raised by diagnostic difficulties are discussed, with special attention to aspects concerning differential diagnosis.

Keywords: Kleine-Levin syndrome, hypersomnolence, hyperphagia, hypersexuality, clinical case, differential diagnosis.

Introduction

Diagnostic criteria for Kleine-Levin syndrome (KLS) are based on the following three symptoms initially proposed: hypersomnia (day and night), hyperphagia and hypersexuality.1 From the clinical perspective, KLS is characterized by a chronic (with variable duration in around 8 years), paroxysmal (with critical periods of "crises," which persist for about 10 days and are recurrent three to four times a year) and quite disabling disorder (both for intellectual tasks and for the professional and social life), although it is "self-limited" as to evolution time, i.e., it ends spontaneously, with or without treatment.2

The present study is justified due to the clinical case given to us and to diagnostic problems KLS often raises.

Based on a literature review and on Minviellee's estimate, we calculated that the total number of cases described in the international scientific literature up to the present time is possibly around 500.3 Between 1962 and 2004, three cases of KLS were described in Brazil.2 One case reported in Brazil had an unfavorable diagnosis with documented neuropsychological sequelae.4 However, there are no safe epidemiological data about that syndrome.

Clinical Case

We report a case of a 16-year-old male patient, son of divorced parents, living with his mother and belonging to a medium-low socioeconomic level.

- Main complaint: sleepiness that prevents him from having his normal activities and inappropriate behavior.

- Current medical history: 3 months ago, his girlfriend got pregnant and lost the baby. Around 10 days ago, before consultation, he was "different:" he walked naked around the house; pinched the maid's buttocks; and masturbated in his bedroom with the door open. In addition, he was eating compulsively, especially sweets. According to his parents, what draws the most attention is mood and affection that are blunted, claiming that their son "seems to look through people." The patient became isolated and presented sleepiness. Due to these symptoms, he was taken to a psychiatrist, who diagnosed him with schizophrenia and prescribed aripiprazole 20 mg and olanzapine 23.5 mg, without any result.

- Family medical history: paternal grandfather diagnosed with schizophrenia, and no medical problems maternally.

- Personal history: 1 month before symptom onset, he had a fever 15 days after a trip to Rondônia. There was no confirmation of infectious and parasitic disease.

Mental examination was jeopardized by patient's sleepiness.

Normal laboratory tests (blood count, biochemical, electroencephalogram, computed tomography and magnetic resonance).

Three days after the first visit, the patient (awake) was interviewed and could not remember anything that had happened during the previous 7 days when he was sleeping. He only reported what he heard from his parents. He reported being in his father's office, where he behaved inconveniently, cursing and singing loudly, although he does not recall it. He was well and normal.

Diagnostic hypothesis was supported by the following characteristics: stress, fever and age (adolescence); and by the symptoms hypersomnia, hyperphagia and hypersexuality, amnesia and improper behavior.

He was medicated with clomipramine 150 mg total dose, lithium 900 mg and methylphenidate 20 mg.

- Evolution: 8 months after symptom onset, medication was suspended; 6 months after that, he had a new crisis: sleepiness, insomnia and other previous symptoms, besides thought derailment, persecutory delusion and amnesia. Medication was reintroduced. In the last crisis, the patient had sleepiness for 6 days, later coming back to normal. He suspended medication and 1 month later had less intense sleepiness for 5 days. Medication was once again reintroduced and 3 months later clomipramine was suspended and lithium and methylphenidate were maintained.

In any of his crises, recovery was spontaneous - over a period of 7 days (first crisis), 6 days (second crisis) and 5 days (third crisis). Onset was quite sudden, it started and disappeared similarly, even without treatment. However, treatment was important to prevent the patient from having more crises.

Discussion

Diagnostic difficulties in KLS

Difficulties and dilemmas raised by diagnosis of hypersomnias in general and KLS in particular have been stressed, with a certain frequency, in the scientific literature.3,5,11

Sleep disorders, among them KLS, can easily be misdiagnosed as primary psychiatric disorders.12 In three female cases described, there was diagnostic error (with encephalitis, epilepsy, mood change and acute psychosis).13 The same occurred in another reported case, which was diagnosed as encephalitis.9 Such reports corroborate the difficulties inherent to KLS diagnosis and the need of discussing them based on its differential diagnosis.

The causes for these difficulties are a result of limitations in diagnostic means and clinical characteristics of this syndrome (Table 1).

Typical syndrome, showing the classic trilogy (hypersomnolence; hyperphagia; hypersexuality), will certainly not escape from clinicians' attention, since it is evident due to richness and clarity of its symptoms. However, existence of "forme fruste," "atypical" syndromes14,15 or "variations" often makes diagnostic difficult.3,5 "Forme fruste" should be understood as cases with discrete or mild clinical expressiveness, i.e., not severe. "Atypical" syndromes are applied to cases of "paradoxical" clinical expressiveness, in which one of the main symptoms is expressed by its "counterpart," for instance, "anorexia" instead of "hyperphagia" or "insomnia" instead of "hypersomnia." "Variations" of the syndrome include cases of "incomplete syndrome," in which there are only two of the main symptoms of the classic triad; or syndrome with prevalence of psychological disorders (cognitive and behavioral) in relation to sleep disorder.

The problem of comorbidity among sleep disorders can make differential diagnosis difficult and create confusion in this group of affections.

Among other causes that explain diagnostic difficulties, it is worth stressing wide range of age at onset, some cases having quite late onset17 and varying between 4 and 82 years; overlapping with other pathologies, such as Prader-Willi18 or pica;19 and difficult distinction of other problems, such as premenstrual hypersomnia in female youths.20,21

Diagnostic difficulties bring complications in prognosis and treatment. To develop a system of the consequences of such difficulties, we grouped them into direct and indirect. In direct consequences, we included those that are primary or secondary; indirect consequences are those resulting from the latter and that, for that reason, are secondary to them (Table 2).

The first consequence is diagnostic delay, confusion or error. In many cases, mean delay is 3.8±4.2 years, and there is even "spontaneous remission" before reaching a diagnosis.7,22 In our clinical case, diagnosis was not immediately performed, but only 3 days after the first visit, when the patient had a previous diagnosis of "schizophrenia."

KLS syndrome is probably underdiagnosed.23 The scientific literature can be easily biased in KLS, reporting more severe and homogenous cases of this syndrome2 more frequently and thus distorting clinicians' attention and contributing to a lower detection rate of "fruste," "atypical" cases or "variations."2 Some authors consider that cases of syndrome with incomplete presentation are more prevalent than cases of complete presentation.12,24,25

Although exceptions have been reported,4,26 long-term prognosis seems to be generally excellent.1,2 Therefore, it is extremely important to tranquilize patients, who are often anxious, and their relatives, similarly worried, as to the usual tendency to complete recovery and absence of long-term sequelae.

Differential diagnosis

Some disorders have identical symptoms to KLS. Thus, it is essential to proceed to a differential diagnosis and exclude certain affections, especially more severe organic or psychiatric disorders and those with more reserved prognoses. Disorders, which can be the object of a differential diagnosis, cover a wide range, depending on KLS clinical presentation form. They are didactically grouped into "sleep disorders," "biorhythm disorders (sleep-wake circadian rhythm)," "medical disorders," "disorders due to use of substances" and "mental (psychiatric) disorders." Considering lethargy in KLS, the first problem with which its differential diagnosis should be performed is certainly muscle fatigue, such as that seen in fibromyalgia ("chronic fatigue syndrome").27

KLS should be more present in clinicians' minds. In general terms, Sadeghi's recommendation, in our opinion, seems to be quite sensible when he claims that KLS should be suspected in any adolescent, boy or girl, who has "bizarre" and "periodic" symptoms12 (Table 3).

Table 3-
Click to enlarge

Conclusion

KLS is rare, but not knowing it can result in wrong diagnosis, waste of time and even lack of its recognition, which brings several negative consequences to the patient and his relatives. That explains our concern in warning professionals through the present clinical case and discussing the difficulties inherent to diagnosis: we would like them to be alert to psychiatric disorders that can manifest symptoms simulating or very close to KLS.

References

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  • Correspondência

    :
    Dênio Lima
    SQN, 316/204, Bloco F
    CEP 70775-060, Brasília, DF
  • Publication Dates

    • Publication in this collection
      31 Mar 2008
    • Date of issue
      Dec 2007

    History

    • Received
      06 Nov 2007
    • Accepted
      19 Dec 2007
    Sociedade de Psiquiatria do Rio Grande do Sul Av. Ipiranga, 5311/202, 90610-001 Porto Alegre RS Brasil, Tel./Fax: +55 51 3024-4846 - Porto Alegre - RS - Brazil
    E-mail: revista@aprs.org.br