School days, school days, dear old golden rule days. It has been over two decades since I completed my training as a genetic counselor, but there are several families that I will always remember and find myself frequently talking about when I train students or discuss counseling issues with colleagues. One of them was a young couple, both with mild intellectual disability and epilepsy, expecting their first child.
Phakomatoses. There are a group of disorders that affect both the skin and the central nervous system. These disorders, called neurocutaneous disorders or phakomatoses, may result in epilepsy or intellectual disability, depending on the extent to which the brain is affected. While a genetic basis for some neurocutaneous disorders including Tuberous Sclerosis Complex (TSC) and neurofibromatosis is known, the etiology of other neurocutaneous diseases remains unknown. Now, a recent paper in the New England Journal of Medicine reports on the genetic alterations underlying one of the most common neurocutaneous disorders, Sturge-Weber syndrome. Continue reading