Smith-Magenis syndrome: a case report

Czech version

Authors: I. Příhodová ¹; D. Kemlink ¹; K. Veselá ²; R. Mihalová ²; S. Nevšímalová ¹
Authors‘ workplace: Neurologická klinika 1. LF UK a VFN v Praze ¹; Ústav biologie a lékařské genetiky 1. LF UK a VFN v Praze ²
Published in: Cesk Slov Neurol N 2008; 71/104(2): 223-227
Category: Case Report

Overview

Smith-Magenis syndrome is a rare disease caused by haploinsufficiency of the RAI 1 (retinoic acid-induced) gene associated with the deletion of chromosome 17p11.2 and/or its mutation. The clinical picture comprises mental retardation, behavioural disorders with marked proneness to self-injurious outbursts, and disordered sleep. Sleep disorders characterised by the overall sleep time shortening, premature awakening and increased daytime sleepiness are very typical features for the syndrome. The cause lies in inverted circadian secretion of melatonin culminating in daytime hours. Patients display characteristic craniofacial dysmorphia, and often multisystem involvement. A case of a female patient is presented, with a typical clinical picture, sleep aberrations and genetic symptoms.

Key words:
Smith-Magenis syndrome – circadian rhythm disorder – melatonin

Sources

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