Dear Friend,
I reviewed with great interest in consultation on November 25, 2009, Mr. Gilles TURCOTTE born on 22/04/1981, who is being followed for severe epilepsy associated with bilateral pachygyria predominantly in the frontal and sylvian regions and associated with lower limb anomalies.
I had the opportunity to see this young man for the last time in 2000. He has already undergone an assessment including a high-resolution karyotype that was normal. The genes involved in pachygyria, doublecortin and LIS1, were studied, and no mutation was found. I also recall that we exchanged letters with the Reference Center for Limb Malformations.
I certainly re-examined Mr. Gilles TURCOTTE in passing. He still shows this rather particular dysmorphia with a very elongated face, a narrow forehead, thick lips, a very ogival palate, and iridial heterochromia. In the lower limbs, there is generalized amyotrophy with flexed knees. In the feet, the entire external ray is missing, with only the big toes and the two other toes fused in syndactyly.
The parents are still very much in need of genetic counseling and also for their other children.
This association is not known in the literature. It is therefore difficult to be precise about genetic counseling.
They were very willing to undergo these new samples, and I dispatched these various samples during the consultation. I warned them that it would take time and that it was partly research.
I will keep you informed if there is any news.
Best regards.