What is congenital aqueductal stenosis and hydrocephalus? (Part 2)

How is it diagnosed?

A diagnosis of hydrocephalus resulting from congenital stenosis of the aqueduct of Sylvius is typically suspected based on the presence of characteristic signs and symptoms (found in a physical exam) and/or imaging of the brain. Evidence of a mutation in the L1CAM gene can be used to confirm the diagnosis

How is it treated?

The treatment of HSAS is dependent on the signs and symptoms presented by each individual. For example, in persons with hydrocephalus, treatment involves brain surgery to implant a shunt. If it causes the child to have intellectual disabilities, a combination of early intervention and enrollment in special education classes might be recommended.

BIBLIOGRAPHY

National Institutes of Health (N.D.) Hydrocephalus due to congenital stenosis of aqueduct of Sylvius. Retrieved on February 7, 2018 from https://rarediseases.info.nih.gov/diseases/434/hydrocephalus-due-to-congenital-stenosis-of-aqueduct-of-sylvius

National Institutes of Health (2018). L 1 syndrome. Retrieved on February 7, 2018 from https://ghr.nlm.nih.gov/condition/l1-syndrome.

Online Mendelian inheritance in men (OMIM) (ND). MASA syndrome. Retrieved on February 7, 2018 from http://www.omim.org/entry/303350.