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108 NARCOLEPSY WITH CATAPLEXY IN MONOZYGOTIC TWINS: CASE REPORT
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Abstracts of 3rd International Congress of the Association of Sleep Medicine (WASM) / Sleep Medicine 10, Suppl. 2 (2009) S1–S83
and remained stable at the final visit. Increase in growth hormone was maximal 4 hours after drug intake. Cortisol circadian rhythm (amplitude and acrophase), ACTH, DHEA-S, TSH, T4, electrolytes and osmolality did not change significantly compared to baseline. Prolactin decreased consistently by 25%, possibly due to above normal values at baseline. Adverse events were in line with previous reports. Conclusion: Sodium oxybate has no global adverse effect on the hypothalamic pituitary axis and is well tolerated. In the absence of IGF-1 changes, increased GH concentrations may be interpreted as the ability of sodium oxybate to increase the duration of slow wave-sleep and improve pulsatile GH secretion during sleep.
107
KLEINE LEVIN SYNDROME – FAMILIAR CASE REPORTS AND LITERATURE REVIEW
A.P. Gonçalves, E.Y. Oda, H.H. Sander, A.L. Eckeli, V.C. Terra, K.G.F.D. Pinto, C.A.R. Funayama, R.M.F. Fernandes. USP-RP Introduction: Kleine Levin Syndrome (KLS) is a rare neurological syndrome, with a prevalence of 1-2 cases per million people. The most notable features include recurrent episodes of hypersomnia, cognitive impairment and behavioral disturbances, and it is associated, though less frequently, with hyperphagia and hypersexuality. Objectives: We report a case of a patient with KLS with unusual manifestations. Case report: A 5-year-old boy was seen in a neuropediatric clinic because of recurrent episodes of excessive sleepiness. He had been well until approximately 2 years before presentation in the clinic. Symptoms began with recurrent episodes of hypersomnia, followed by awake periods during which he had no social contact. He also showed irritability and increased food intake. Periods of sleepiness lasted 2 to 6 days, as did the awake periods. Attacks were preceeded by headache. The first episode was preceded by one seizure and the latest episode was associated with dysautonomy, apnea and bradycardia. His 8-year-old sister had recurrent episodes of somnolence, hyperphagia and hypersexuality, beginning at 5 years of age, with good response to methylphenidate. Two others sisters, 7-and 3-years-old, also presented one and two episodes, respectively, of hypersomnia lasting a few days. Brain CT and MRI were normal. Night polysomnography revealed upper aiway resistance syndrome, and a multiple sleep latency test showed reduced latency to REM-sleep and 2 SOREMPs. Analyses of blood samples and cerebrospinal fluid were normal, aside from showing a CSF hypocretin level greater than 300. Discussion: KLS is a rare disorder characterized by recurrent periods of excessive drowsiness and sleep, cognitive and behavior abnormalities, such as hyperphagia and hypersexuality. First described more than 80 years ago, the pathophysiology remains unknown. KLS primarily effects adolescent boys. The evolution is in the form of recurrence and remission and often disappears by the age of young adults. The large majority (98%) of cases are sporadic, and the diagnosis is clinical. Currently, there is no formal treatment for KLS due to the lack of knowledge of the underlying cause. Stimulant medications may be prescribed to treat sleepiness. Medications to treat mood disturbances and depression may also be recommended. Our patient had an earlier onset than that reported in the literature, and the relapse period significantly shorter. Although no investigation was undertaken in his siblings, the presence of two sisters with similar symptoms to our patient suggests some form of familial inheritance in this case.
108
NARCOLEPSY WITH CATAPLEXY IN MONOZYGOTIC TWINS: CASE REPORT
L.I. Goulart 1 , H.H. Sander 2 , A.H. Martori 2 , D.V. Pachito 3 , M. Pedrazzoli 4 , L.R. Pinto Jr. 1 , R.M.F. Fernandes 2 , S. Tufik 1 . 1 UNIFESP; 2 FMRP-USP; 3 USP-FMRP; 4 USP Introduction: This paper describes narcolepsy with cataplexy in two monozygotic twin sisters. Objective: To clinically illustrate the key involvement of neurological, genetic and immunologic systems in narcolepsy. Material and Methods: We performed a retrospective study of these patients that were followed in the sleep medicine ambulatory clinic of the Faculdade de Medicina de Ribeirao Preto. Results: These sisters are two of few cases in the literature concordant for narcolepsy with cataplexy and without a “positive HLA” for narcolepsy.
Conclusion: In addition to known genetical similarity, this report stresses the role of environmental or unknown genetical factors acting on a specific neuro-imuno and genetical background and resulting in narcolepsy.
109
A CONTENT ANALYSIS OF NARCOLEPTIC DREAMS: PRELIMINARY RESULTS
C.O. Inocente 1 , T. Paiva 2 . 1 Master in Cognitive Sciences for Université Bordeaux 2 – Institut of Cognitique (France). Member of the Advanced Group in Medicine of the Sleep (HCFSM-USP); 2 Professor Doctor of Faculty of Medicine of the University of Lisbon and Director of the Lab EEG/Sleep to Lisbon (Portugal) Narcolepsy is a disturbance of paradoxical sleep, which is characterized by an increased frequency in dreams, excessive sleepiness during the day and cataplexy. This study is of the type traverse, exploratory and descriptive, composed by 2 groups: control and study (narcoleptics). Subjects were two men and eight women, between the ages of 22 and 53 years, with an educational level of knowing how to read. The participants answered several questionnaires: Pittsburgh Sleep Quality Index, Epworth Sleepiness Scale, SCL-90-R and Oniric Frequency Questionnaire. The diary of each participant’s dreams was monitored for 15 days and appraised for Coding Rules using the Hall and Van of Castle System of Quantitative Dream Content Analysis that analyzes objectively the number of times that a specific dream characteristic occurs. The results reveal, with a significance level of 5%, differences among the narcoleptic and control groups with respect to: bad quality of the sleep, excessive sleepiness of the day in several monotonous daily activities, presence of psychological and psychiatric symptoms (interpersonal sensibility, depression, paranoid ideas, psychoticism, index of global and total severity of positive symptoms) and different aspects of their dreams (memories, realism, intensity and creativity of the dreams and the numbers of wake-ups). In relation to analyses of the contents of the dreams, the narcoleptics presented dreams with characteristics of corporal evil (p<0,009), Aggression/Friendliness (p<0,037) and Aggressor (95%). The psychological and psychiatric symptoms/disturbances provoked by the owed social conflicts related to the conscience of him or herself, because of the sleep attacks and of cataplexy, as well as the alterations of the sleep in narcolepsy (repeated wake-ups during the night and excessive sleepiness), could underlie the dreams in narcolepsy. The psychiatric and psychological symptoms seem to be pertinent to explain the distinctive aspects of the dreams in narcolepsy. Current advances on the relationship among psychology, cognitive science, sleep, dreams, through comparative studies between healthy subjects and narcoleptics, can contribute to the multidimensional treatment of narcolepsy (neurological, psychological and cognitive), in order to improve the social and intimate life of the patient (both in their dreams or during the wakefulness).
110
CARDIOPULMONARY RESPONSE TO EXERCISE IN NARCOLEPTIC PATIENTS
L.F. Rios 1 , F. Cintra 2 , F.M. Coelho 2 , L.R. Bittencourt 2 , D. Poyares 2 , B.M.D. Rollim 2 , D.R.C. Reis 2 , C.F. Rizzi 2 , S. Tufik 2 . 1 UNFESP; 2 UNIFESP Introduction: The role of exercise capacity in patients with sleep disorders is under investigation. Obstructive sleep apnea (OSA) has been associated to some cardiovascular consequences including exercise cardiopulmonary impairment, particularly in obese patients. Narcolepsy (NAR) is characterized by periods of irresistible sleep, cataplexy, sleep paralysis, and hypnagogic hallucinations. Excessive daytime sleepiness and sometimes fatigue are frequently reported in both OSA and narcoleptic patients. Exercise capacity in narcolepsy has not been fully investigated. The aim of this study was to evaluate functional capacity in narcoleptic patients compared to OSA and controls. Methods: Eleven narcoleptic patients (mean age 40,18±8,81) characterized by clinical history, multiple sleep latency test, and presence of HLADQB1*0602 allele were enrolled and matched by age and gender to OSA and controls (CON). Eleven OSA patients mean AHI of 26,51±28,57, and eleven non-OSA, non-narcoleptic, otherwise good sleepers comprised the control groups. Inclusion criteria were: body mass index <40 kg/m2 , left ventricle ejection fraction >35%, and sedentarism. Severe systemic disease, pulmonary or cardiac disease, smoking, pregnancy, and major cognitive impairment were criteria for exclusion. All subjects underwent clinical evaluation, maximum limited symptom cardiopulmonary exercise test with ramp pro-
Abstracts of 3rd International Congress of the Association of Sleep Medicine (WASM) / Sleep Medicine 10, Suppl. 2 (2009) S1–S83
and remained stable at the final visit. Increase in growth hormone was maximal 4 hours after drug intake. Cortisol circadian rhythm (amplitude and acrophase), ACTH, DHEA-S, TSH, T4, electrolytes and osmolality did not change significantly compared to baseline. Prolactin decreased consistently by 25%, possibly due to above normal values at baseline. Adverse events were in line with previous reports. Conclusion: Sodium oxybate has no global adverse effect on the hypothalamic pituitary axis and is well tolerated. In the absence of IGF-1 changes, increased GH concentrations may be interpreted as the ability of sodium oxybate to increase the duration of slow wave-sleep and improve pulsatile GH secretion during sleep.
107
KLEINE LEVIN SYNDROME – FAMILIAR CASE REPORTS AND LITERATURE REVIEW
A.P. Gonçalves, E.Y. Oda, H.H. Sander, A.L. Eckeli, V.C. Terra, K.G.F.D. Pinto, C.A.R. Funayama, R.M.F. Fernandes. USP-RP Introduction: Kleine Levin Syndrome (KLS) is a rare neurological syndrome, with a prevalence of 1-2 cases per million people. The most notable features include recurrent episodes of hypersomnia, cognitive impairment and behavioral disturbances, and it is associated, though less frequently, with hyperphagia and hypersexuality. Objectives: We report a case of a patient with KLS with unusual manifestations. Case report: A 5-year-old boy was seen in a neuropediatric clinic because of recurrent episodes of excessive sleepiness. He had been well until approximately 2 years before presentation in the clinic. Symptoms began with recurrent episodes of hypersomnia, followed by awake periods during which he had no social contact. He also showed irritability and increased food intake. Periods of sleepiness lasted 2 to 6 days, as did the awake periods. Attacks were preceeded by headache. The first episode was preceded by one seizure and the latest episode was associated with dysautonomy, apnea and bradycardia. His 8-year-old sister had recurrent episodes of somnolence, hyperphagia and hypersexuality, beginning at 5 years of age, with good response to methylphenidate. Two others sisters, 7-and 3-years-old, also presented one and two episodes, respectively, of hypersomnia lasting a few days. Brain CT and MRI were normal. Night polysomnography revealed upper aiway resistance syndrome, and a multiple sleep latency test showed reduced latency to REM-sleep and 2 SOREMPs. Analyses of blood samples and cerebrospinal fluid were normal, aside from showing a CSF hypocretin level greater than 300. Discussion: KLS is a rare disorder characterized by recurrent periods of excessive drowsiness and sleep, cognitive and behavior abnormalities, such as hyperphagia and hypersexuality. First described more than 80 years ago, the pathophysiology remains unknown. KLS primarily effects adolescent boys. The evolution is in the form of recurrence and remission and often disappears by the age of young adults. The large majority (98%) of cases are sporadic, and the diagnosis is clinical. Currently, there is no formal treatment for KLS due to the lack of knowledge of the underlying cause. Stimulant medications may be prescribed to treat sleepiness. Medications to treat mood disturbances and depression may also be recommended. Our patient had an earlier onset than that reported in the literature, and the relapse period significantly shorter. Although no investigation was undertaken in his siblings, the presence of two sisters with similar symptoms to our patient suggests some form of familial inheritance in this case.
108
NARCOLEPSY WITH CATAPLEXY IN MONOZYGOTIC TWINS: CASE REPORT
L.I. Goulart 1 , H.H. Sander 2 , A.H. Martori 2 , D.V. Pachito 3 , M. Pedrazzoli 4 , L.R. Pinto Jr. 1 , R.M.F. Fernandes 2 , S. Tufik 1 . 1 UNIFESP; 2 FMRP-USP; 3 USP-FMRP; 4 USP Introduction: This paper describes narcolepsy with cataplexy in two monozygotic twin sisters. Objective: To clinically illustrate the key involvement of neurological, genetic and immunologic systems in narcolepsy. Material and Methods: We performed a retrospective study of these patients that were followed in the sleep medicine ambulatory clinic of the Faculdade de Medicina de Ribeirao Preto. Results: These sisters are two of few cases in the literature concordant for narcolepsy with cataplexy and without a “positive HLA” for narcolepsy.
Conclusion: In addition to known genetical similarity, this report stresses the role of environmental or unknown genetical factors acting on a specific neuro-imuno and genetical background and resulting in narcolepsy.
109
A CONTENT ANALYSIS OF NARCOLEPTIC DREAMS: PRELIMINARY RESULTS
C.O. Inocente 1 , T. Paiva 2 . 1 Master in Cognitive Sciences for Université Bordeaux 2 – Institut of Cognitique (France). Member of the Advanced Group in Medicine of the Sleep (HCFSM-USP); 2 Professor Doctor of Faculty of Medicine of the University of Lisbon and Director of the Lab EEG/Sleep to Lisbon (Portugal) Narcolepsy is a disturbance of paradoxical sleep, which is characterized by an increased frequency in dreams, excessive sleepiness during the day and cataplexy. This study is of the type traverse, exploratory and descriptive, composed by 2 groups: control and study (narcoleptics). Subjects were two men and eight women, between the ages of 22 and 53 years, with an educational level of knowing how to read. The participants answered several questionnaires: Pittsburgh Sleep Quality Index, Epworth Sleepiness Scale, SCL-90-R and Oniric Frequency Questionnaire. The diary of each participant’s dreams was monitored for 15 days and appraised for Coding Rules using the Hall and Van of Castle System of Quantitative Dream Content Analysis that analyzes objectively the number of times that a specific dream characteristic occurs. The results reveal, with a significance level of 5%, differences among the narcoleptic and control groups with respect to: bad quality of the sleep, excessive sleepiness of the day in several monotonous daily activities, presence of psychological and psychiatric symptoms (interpersonal sensibility, depression, paranoid ideas, psychoticism, index of global and total severity of positive symptoms) and different aspects of their dreams (memories, realism, intensity and creativity of the dreams and the numbers of wake-ups). In relation to analyses of the contents of the dreams, the narcoleptics presented dreams with characteristics of corporal evil (p<0,009), Aggression/Friendliness (p<0,037) and Aggressor (95%). The psychological and psychiatric symptoms/disturbances provoked by the owed social conflicts related to the conscience of him or herself, because of the sleep attacks and of cataplexy, as well as the alterations of the sleep in narcolepsy (repeated wake-ups during the night and excessive sleepiness), could underlie the dreams in narcolepsy. The psychiatric and psychological symptoms seem to be pertinent to explain the distinctive aspects of the dreams in narcolepsy. Current advances on the relationship among psychology, cognitive science, sleep, dreams, through comparative studies between healthy subjects and narcoleptics, can contribute to the multidimensional treatment of narcolepsy (neurological, psychological and cognitive), in order to improve the social and intimate life of the patient (both in their dreams or during the wakefulness).
110
CARDIOPULMONARY RESPONSE TO EXERCISE IN NARCOLEPTIC PATIENTS
L.F. Rios 1 , F. Cintra 2 , F.M. Coelho 2 , L.R. Bittencourt 2 , D. Poyares 2 , B.M.D. Rollim 2 , D.R.C. Reis 2 , C.F. Rizzi 2 , S. Tufik 2 . 1 UNFESP; 2 UNIFESP Introduction: The role of exercise capacity in patients with sleep disorders is under investigation. Obstructive sleep apnea (OSA) has been associated to some cardiovascular consequences including exercise cardiopulmonary impairment, particularly in obese patients. Narcolepsy (NAR) is characterized by periods of irresistible sleep, cataplexy, sleep paralysis, and hypnagogic hallucinations. Excessive daytime sleepiness and sometimes fatigue are frequently reported in both OSA and narcoleptic patients. Exercise capacity in narcolepsy has not been fully investigated. The aim of this study was to evaluate functional capacity in narcoleptic patients compared to OSA and controls. Methods: Eleven narcoleptic patients (mean age 40,18±8,81) characterized by clinical history, multiple sleep latency test, and presence of HLADQB1*0602 allele were enrolled and matched by age and gender to OSA and controls (CON). Eleven OSA patients mean AHI of 26,51±28,57, and eleven non-OSA, non-narcoleptic, otherwise good sleepers comprised the control groups. Inclusion criteria were: body mass index <40 kg/m2 , left ventricle ejection fraction >35%, and sedentarism. Severe systemic disease, pulmonary or cardiac disease, smoking, pregnancy, and major cognitive impairment were criteria for exclusion. All subjects underwent clinical evaluation, maximum limited symptom cardiopulmonary exercise test with ramp pro-