Periodic hypersomnia, congenital ectodermal disorders and multiple exostosis

Reimão, Rubens; Diament, Aron

doi:10.1590/S0004-282X1989000100010

Abstracts

A case of periodic hypersomnia in an 11-year-old female with the unique features of mental deficiency, incontinentia pigmenti, acanthosis nigricans and hereditary multiple exostosis (diaphysial aclasis) is reported. The clinical, Polysomnographic and Multiple Sleep Latency test features of this case with a follow up of seven years are consistent with a diagnosis of periodic (intermittent) excessive somnolence. The unique presentation, however, does differ from Kleine-Levin syndrome and suggests a relationship between the predominantly ectodermal, congenital disorders and the sleep-wake, pattern dysfunction.

Relata-se um caso de sonolência excessiva periódica acompanhada de hiperfagia, com início na segunda década, documentado clinicamente, em tragados polissonográficos de noite inteira e no teste das Latências Múltiplas do Sono. Apresenta características que o distinguem da síndrome de Kleine-Levin, a saber, a ocorrência no sexo feminino, deficiência mental, incontinência pigmentar, acantose nigricans e exostose múltipla.

Periodic hypersomnia, congenital ectodermal disorders and multiple exostosis

Hipersônia periódica, malformações ectodérmicas e exostose múltipla

Rubens Reimão^I; Aron Diament^II

^IPediatric Neurology Unit, Department of Neurology, Faculty of Medicine, University of São Paulo, and Sleep Disorders Center, Albert Einstein Hospital, São Paulo. Assistant

^IIPediatric Neurology Unit, Department of Neurology, Faculty of Medicine, University of São Paulo, and Sleep Disorders Center, Albert Einstein Hospital, São Paulo. Head

SUMMARY

A case of periodic hypersomnia in an 11-year-old female with the unique features of mental deficiency, incontinentia pigmenti, acanthosis nigricans and hereditary multiple exostosis (diaphysial aclasis) is reported. The clinical, Polysomnographic and Multiple Sleep Latency test features of this case with a follow up of seven years are consistent with a diagnosis of periodic (intermittent) excessive somnolence. The unique presentation, however, does differ from Kleine-Levin syndrome and suggests a relationship between the predominantly ectodermal, congenital disorders and the sleep-wake, pattern dysfunction.

RESUMO

Relata-se um caso de sonolência excessiva periódica acompanhada de hiperfagia, com início na segunda década, documentado clinicamente, em tragados polissonográficos de noite inteira e no teste das Latências Múltiplas do Sono. Apresenta características que o distinguem da síndrome de Kleine-Levin, a saber, a ocorrência no sexo feminino, deficiência mental, incontinência pigmentar, acantose nigricans e exostose múltipla.

Full text available only in PDF format.

Texto completo disponível apenas em PDF.

Departamento de Neurologia, Faculdade de Medicina da Universidade de São Paulo - Caixa Postal 3461 - 01081 São Paulo SP - Brasil

1. Association of Sleep Disorders Centers - Diagnostic classification of sleep and arousal disorders. Sleep 2:1, 1979.
2. Brooks AP, Wynne-Davies R - A family with dyaphyseal and peripheral dysostosis. J Med Genet 17:277, 1980.
3. Critchley M - Periodic hypersomnia and megaphagia in adolescent males. Brain 85:627, 1962.
4. Duffy JB, Davidson K - A female case of Kleine Levin syndrome. Br J Psychiat 114:77, 1968.
5. Earle BV - Periodic hypersomnia and megaphagia (the Kleine-Levin syndrome). Psychiatr Quart 39:79, 1965.
6. Gardmer EJ, Shupe JL, Leone NC, Olson AE - Hereditary multiple exostosis: a comparative genetic evaluation in man and horses. J Hered 66:318, 1975.
7. Gilbert GJ - Periodic hypersomnia and bulimia: the Kleine-Levin syndrome. Neurology 14:844, 1964.
8. Green LN, Cracco RQ - Kleine-Levin syndrome: a case with EEG evidence of periodic brain dysfunction. Arch Neurol 22:166, 1970.
9. Ho SU, Lipton HL - Hereditary multiple exostoses with myelopathy. Arch Neurol 36:714, 1979.
10. Lavie P, Gadoth N, Gordon CR, Goldhammer G, Bechar M - Sleep patterns in Kleine-Levin syndrome. Electroenceph Clin Neurophysiol 47:369, 1979.
11. Lavie P, Klein E, Gadoth N, Bental E, Zomer J, Bechar M, Wajsbort J - Further observations on sleep abnormalities in Kleine-Levin syndrome: abnormal breathing pattern during sleep. Electroenceph Clin Neurophysiol 52:98, 1981.
12. Messimy R - Hypersomnie périodique; le syndrome de Kleine-Levin et ses problemes: revue des cas récents. Int J Neurol 15:119, 1981.
13. Mitler M - The Multiple Sleep Latency test as an evaluation for excessive somnolence. In Guilleminault C - Sleeping and Waking Disorders: Indications and Techniques. Addison-Wesley Publ, Menlo Park, 1982, pg 145.
14. Orlosky MJ - The Kleine-Levin syndrome: a review. Psychosomatics 23:609, 1982.
15. Plasse M, Joannard A, Maynard R, Jouk PS, Gilly R, Beaudoing A - Syndrome de Kleine-Levin. Pediatrie 32:601, 1982.
16. Rechtschaffen A, Kales A - A Manual of Standardized Terminology. Techniques and Scoring System for Sleep Stages of Human Subjects. Brain Information Service/Brain Research Institute, University of California, Los Angeles, 1968.
17. Reynolds CF, Black RS, Coble P, Holzer B, Kupfer DJ - Similarities in EEG sleep findings for Kleine-Levin syndrome and unipolar depression. Am J Psychiat 137:116, 1980.
18. Shapiro F, Simon S, Glimcher MJ - Hereditary multiple exostosis. J Bone Joint Surg 61A:815, 1979.
19. Solomon L - Hereditary multiple exostosis. J Bone Joint Surg 45B:292, 1963.
20. Solomon L - Hereditary multiple exostosis. Am J Hum Cenet 16:351, 1964.

Publication Dates

Publication in this collection
06 June 2011
Date of issue
Mar 1989

This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

[1] 1. Association of Sleep Disorders Centers - Diagnostic classification of sleep and arousal disorders. Sleep 2:1, 1979.

[2] 2. Brooks AP, Wynne-Davies R - A family with dyaphyseal and peripheral dysostosis. J Med Genet 17:277, 1980.

[3] 3. Critchley M - Periodic hypersomnia and megaphagia in adolescent males. Brain 85:627, 1962.

[4] 4. Duffy JB, Davidson K - A female case of Kleine Levin syndrome. Br J Psychiat 114:77, 1968.

[5] 5. Earle BV - Periodic hypersomnia and megaphagia (the Kleine-Levin syndrome). Psychiatr Quart 39:79, 1965.

[6] 6. Gardmer EJ, Shupe JL, Leone NC, Olson AE - Hereditary multiple exostosis: a comparative genetic evaluation in man and horses. J Hered 66:318, 1975.

[7] 7. Gilbert GJ - Periodic hypersomnia and bulimia: the Kleine-Levin syndrome. Neurology 14:844, 1964.

[8] 8. Green LN, Cracco RQ - Kleine-Levin syndrome: a case with EEG evidence of periodic brain dysfunction. Arch Neurol 22:166, 1970.

[9] 9. Ho SU, Lipton HL - Hereditary multiple exostoses with myelopathy. Arch Neurol 36:714, 1979.

[10] 10. Lavie P, Gadoth N, Gordon CR, Goldhammer G, Bechar M - Sleep patterns in Kleine-Levin syndrome. Electroenceph Clin Neurophysiol 47:369, 1979.

[11] 11. Lavie P, Klein E, Gadoth N, Bental E, Zomer J, Bechar M, Wajsbort J - Further observations on sleep abnormalities in Kleine-Levin syndrome: abnormal breathing pattern during sleep. Electroenceph Clin Neurophysiol 52:98, 1981.

[12] 12. Messimy R - Hypersomnie périodique; le syndrome de Kleine-Levin et ses problemes: revue des cas récents. Int J Neurol 15:119, 1981.

[13] 13. Mitler M - The Multiple Sleep Latency test as an evaluation for excessive somnolence. In Guilleminault C - Sleeping and Waking Disorders: Indications and Techniques. Addison-Wesley Publ, Menlo Park, 1982, pg 145.

[14] 14. Orlosky MJ - The Kleine-Levin syndrome: a review. Psychosomatics 23:609, 1982.

[15] 15. Plasse M, Joannard A, Maynard R, Jouk PS, Gilly R, Beaudoing A - Syndrome de Kleine-Levin. Pediatrie 32:601, 1982.

[16] 16. Rechtschaffen A, Kales A - A Manual of Standardized Terminology. Techniques and Scoring System for Sleep Stages of Human Subjects. Brain Information Service/Brain Research Institute, University of California, Los Angeles, 1968.

[17] 17. Reynolds CF, Black RS, Coble P, Holzer B, Kupfer DJ - Similarities in EEG sleep findings for Kleine-Levin syndrome and unipolar depression. Am J Psychiat 137:116, 1980.

[18] 18. Shapiro F, Simon S, Glimcher MJ - Hereditary multiple exostosis. J Bone Joint Surg 61A:815, 1979.

[19] 19. Solomon L - Hereditary multiple exostosis. J Bone Joint Surg 45B:292, 1963.

[20] 20. Solomon L - Hereditary multiple exostosis. Am J Hum Cenet 16:351, 1964.