Treatment of Cornelia de Lange syndrome: Evidence-based medicine and expert opinion

Abstract

Background: Cornelia de Lange syndrome is a rare genetic condition of highly variable phenotype making ranging from classic syndrome with many cardinal features to mild syndrome with less characteristic features. Materials and methods: The mother of a three and half years old boy brought her son to our clinic because of significant developmental delay and over-activity. The mother denied the presence of relevant family history. Results: The boy was mentally retarded and had facial dysmorphic features including thick eyebrows with synophrys, long or smooth philtrum, thin upper lip vermilion, and low set ears. The boy poor adaptive skills and has not achieved urine and bowel control and was unable to hold spoon appropriately to feed himself. He had no speech development and was not saying any word. At the clinic, he was very active, but he was responding to name and had acceptable eye contact and therefore, he was not considered to have autistic features. It was not possible to convince him to take a pen to scribble. Based on our extensive published experiences with treatment of mental retardation syndrome, we recommended an initial therapeutic course which included a course of intramuscular piracetam 600 mg given daily in the morning every third day (Ten doses over one month). Conclusion: An expert therapeutic recommendation for the condition is described.