Smith-Magenis syndrome: a case report

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


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


1. Smith AC, McGavran L, Robinson J, Waldstein G, Macfarlane J, Zonona J et al. Interstitial deletion of (17)(p11.2p11.2) in nine patients. Am J Med Genet 1986; 24: 393–414.

2. Greenberg F, Guzzetta V, Montes de Oca-Luna R, Magenis RE, Smith AC, Richter SF et al. Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2). Am J Hum Genet 1991; 49: 1207–1218.

3. Juyal RC, Figuera LE, Hauge X, Elsea SH, Lupski JR, Greenberg F et al. Molecular analysis of 17p11.2 deletion in 62 Smith-Magenis syndrome patients. Am J Hum Genet 1996; 58: 998–1007.

4. Slager RE, Newton TL, Vlangos CN, Finucane B, Elsea SH. Mutation in RAI 1 associated with Smith-Magenis syndrome. Nat Genet 2003; 33: 466–468.

5. Gropman AL, Duncan WC, Smith AC. Neurologic and developmental features of the Smith-Magenis syndrome (del 17p11.2). Pediatr Neurol 2006; 34: 337–350.

6. Greenberg F, Lewis RA, Potocki L, Glaze D, Parke J, Killian J et al. Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2). Am J Med Genet 1996; 62: 247–254.

7. Smith AC, Dykens E, Greenberg F. Behavioral phenotype of Smith-Magenis syndrome (del 17p11.2). Am J Med Genet 1998; 81: 179–185.

8. Smith ACM, Dykens E, Greenberg F. Sleep disturbance in Smith-Magenis syndrome (del 17p11.2). Am J Med Genet 1998; 81: 186–191.

9. Potocki L, Glaze D, Tan DX, Park SS, Kashork CD, Shaffer LG et al. Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome. J Med Genet 2000; 37: 428–433.

10. De Leersnyder H, de Blois MC, Claustrat B, Romana S, Albrecht U, Von Kleist-Retzow JC et al. Inversion of the circadian rhythm of melatonin in the Smith-Magenis syndrome. J Pediatr 2001; 139: 111–116.

11. De Leersnyder H, de Blois MC, Vekemans M, Sidi D, Villain E, Kindermans C et al. Beta1-adrenergic antagonists improve sleep and behavioural disturbances in a circadian disorder Smith-Magenis syndrome. J Med Genet 2001; 38: 586–590.

12. De Leersnyder H, Bresson JL, de Blois MC, Souberbielle JC, Mogenet A, Delhotal-Landes B et al. Beta 1-adrenergic antagonists and melatonin reset the clock and restore sleep in a circadian disorder, Smith-Magenis syndrome. J Med Genet 2003; 40: 74–78.

Paediatric neurology Neurosurgery Neurology
Forgotten password

Enter the email address that you registered with. We will send you instructions on how to set a new password.


Don‘t have an account?  Create new account