Novel chromosomal abberation in a patient with a unique sleep disorder
- Dr Yoshiya Hasegawa, Department of Neurology, Nagoyacity Koseiin Geriatric Hospital, 2-1501 Sekobo Meito-ku, Nagoya 465 Japan. Telephone 0081 52 704 2211; fax 0081 52 704 2780.
- Received 15 October 1996
- Revised 24 June 1997
- Accepted 30 June 1997
Abstract
A 45 year old woman presenting with periodic hypersomnia for 17 years is reported on. She would sleep for three weeks followed by the same period awake. Polysomnography in the somnolent period disclosed an excess of total sleeping time with remarkably increased stage 1, 3/4, and REM sleep, without cataplexy or sleep paralysis. HLA typing was incompatible with narcolepsy or REM sleep behavioural disorder. Her chromosomes showed premature centromere division with chromatid puffing in areas of constitutive heterochromatin, which is exclusively found in the syndrome of infants termed Roberts’ syndrome/SC phocomelia. Other laboratory findings were not normal. It is suggested that the present case is a novel sleep disorder related to a unique chromosomal aberration.
