X-linked hydrocephalus (L1 syndrome)
The clinical spectrum of L1 syndrome comprises 3 major disorders, namely X-linked hydrocephalus (XLH), MASA syndrome (mental retardation, adducted thumbs, shuffling gait, aphasia) and spastic paraplegia type I (SPG1). L1CAM mutations are the cause of most cases of “congenital absence of pyramids”. X-linked hydrocephalus is the most common genetic cause of congenital hydrocephalus, accounting for about 10% of cases in boys.
Nov. 05, 2021