Periodic hypersomnia, congenital ectodermal disorders and multiple exostosis
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...
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| Format: | Article |
| Language: | English |
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Thieme Revinter Publicações
1989-03-01
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| Series: | Arquivos de Neuro-Psiquiatria |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1989000100010&lng=en&tlng=en |
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| _version_ | 1849766271839633408 |
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| author | Rubens Reimão Aron Diament |
| author_facet | Rubens Reimão Aron Diament |
| author_sort | Rubens Reimão |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-b9f87018cab24a33adc1b09682ecc599 |
| institution | DOAJ |
| issn | 1678-4227 |
| language | English |
| publishDate | 1989-03-01 |
| publisher | Thieme Revinter Publicações |
| record_format | Article |
| series | Arquivos de Neuro-Psiquiatria |
| spelling | doaj-art-b9f87018cab24a33adc1b09682ecc5992025-08-20T03:04:38ZengThieme Revinter PublicaçõesArquivos de Neuro-Psiquiatria1678-42271989-03-01471767910.1590/S0004-282X1989000100010S0004-282X1989000100010Periodic hypersomnia, congenital ectodermal disorders and multiple exostosisRubens Reimão0Aron Diament1Universidade de São PauloUniversidade de São PauloA 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.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1989000100010&lng=en&tlng=en |
| spellingShingle | Rubens Reimão Aron Diament Periodic hypersomnia, congenital ectodermal disorders and multiple exostosis Arquivos de Neuro-Psiquiatria |
| title | Periodic hypersomnia, congenital ectodermal disorders and multiple exostosis |
| title_full | Periodic hypersomnia, congenital ectodermal disorders and multiple exostosis |
| title_fullStr | Periodic hypersomnia, congenital ectodermal disorders and multiple exostosis |
| title_full_unstemmed | Periodic hypersomnia, congenital ectodermal disorders and multiple exostosis |
| title_short | Periodic hypersomnia, congenital ectodermal disorders and multiple exostosis |
| title_sort | periodic hypersomnia congenital ectodermal disorders and multiple exostosis |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1989000100010&lng=en&tlng=en |
| work_keys_str_mv | AT rubensreimao periodichypersomniacongenitalectodermaldisordersandmultipleexostosis AT arondiament periodichypersomniacongenitalectodermaldisordersandmultipleexostosis |