X-linked Hydrocephlaus

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)





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