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

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.