Novel chromosomal abberation in a patient with a unique sleep disorder
| Autor: | Yoshiya Hasegawa, Akio Suzumura, Manabu Morishita |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 1998 |
| Předmět: |
Pediatrics
medicine.medical_specialty X Chromosome Cataplexy Polysomnography Centromere Short Report Sleep REM Phocomelia Chromatids Kleine-Levin Syndrome Consanguinity Heterochromatin medicine Humans Roberts syndrome Psychiatry Chromosome Aberrations Sleep disorder medicine.diagnostic_test Mosaicism Histocompatibility Testing Middle Aged medicine.disease Psychiatry and Mental health Kleine–Levin syndrome Surgery Female Neurology (clinical) medicine.symptom Psychology Sleep paralysis Narcolepsy |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|