Smith Magenis Syndrome: A syndrome with intellectual disability and neurobehavioral problems

Authors

  • Mehmet Demirel, [MD] Hacettepe University Faculty of Medicine Department of Medical Genetics,
  • Eda Utine, [MD] Hacettepe University, Faculty of Medicine, Department of Pediatrics, Department of Pediatric Genetics
  • Koray Boduro?lu, [MD] Hacettepe University Faculty of Medicine, Department of Pediatrics, Department of Pediatric Genetics,

Abstract

Smith Magenis syndrome is a rare, complex neurobehavioral genetic disor- der caused by an interstitial deletion of chromosome 17p11.2. This region in- cludes retinoic acid induced-1 (RAI-1), gene, which is responsible for most clinical features of Smith Magenis syndrome. Some patients may have a point mutation of RAI1. An 11-year-old girl with intellectual disability was re- ferred to the pediatric genetics department. She had a history of seizures and neurobehavioural problems including impulsivity, aggressiveness, self-injury and sleep disturbance. Ophthalmologic and cardiac examinations were nor- mal. Neurobehavioral pattern and intellectual disability was suggestive for Smith Magenis syndrome, and this was confirmed by fluorescence in situ hy- bridization (FISH), which revealed del (17) (p11.2p11.2) (RAI1-). This patient shows that facial and ophthalmological features may be absent in patients and neurobehavioral phenotype may be the prominent finding.

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Published

2014-01-20

How to Cite

1.
Demirel M, Utine E, Boduroğlu K. Smith Magenis Syndrome: A syndrome with intellectual disability and neurobehavioral problems. Acta Medica [Internet]. 2014 Jan. 20 [cited 2024 May 20];45(1):35-7. Available from: https://www.actamedica.org/index.php/actamedica/article/view/142

Issue

Section

Case Report