X-linked hydrocephalus (L1 syndrome)
**September is Hydrocephalus Awareness month**
Hydrocephalus is referred to as water on the brain. The water is called cerebrospinal fluid (CSF), a clear liquid that is produced in the 4 ventricles (cavities) of the brain.
My boys were diagnosed with Hydrocephalus at birth.
Congenital hydrocephalus accounts for approximately 50% of all forms of hydrocephalus.
X-linked hydrocephalus (L1 syndrome) is the most common genetic cause of congenital hydrocephalus, accounting for about 10% of congenital hydrocephalus in boys, and is a common cause of X-linked spastic paraplegia (SPG1) in boys.
L1 syndrome is caused by mutations in the neural cell adhesion molecule L1 (L1CAM) gene at Xq28 and comprises a broad clinical spectrum of disorders, including X-linked hydrocephalus (XLH), MASA syndrome (Mental retardation, Adducted thumbs, Shuffling gait, Aphasia), spastic paraplegia type I (SPG1)