Hydrocephalus due to congenital stenosis of aqueduct of sylvius

HSAS, Bickers-Adams syndrome, X-linked HSAS, X-linked acqueductal stenosis, X-linked hydrocephalus, X-linked hydrocephalus with stenosis of aqueduct of Sylvius

Overview

Type of disease: Rare conditions

Hydrocephalus due to congenital stenosis of aqueduct of sylvius is a disorder that occurs before birth. It is a specific form of L1 Syndrome, which is known for buildup of cerebrospinal fluid in the brain, intellectual disability, uncontrollable leg movements, and thumbs bent back toward the top of the hand/wrist. Hydrocephalus due to congenital stenosis of aqueduct of sylvius involves all of these symptoms, but the name specifies the location of the cerebrospinal fluid buildup. This buildup is located in the aqueduct of sylvius, which connects different structures in the brain that carry cerebrospinal fluid.

Diagnosis of hydrocephalus due to congenital stenosis of aqueduct of sylvius requires brain imaging, or ultrasounds if a baby is still in the mother’s womb. Brain imaging is typically suggested if the head is abnormally large. These symptoms can become more severe and noticed at any age. Treatment for hydrocephalus due to congenital stenosis of aqueduct of sylvius often includes shunting, or directing the path of the cerebrospinal fluid away from the brain. If you or a family member has been diagnosed with hydrocephalus due to congenital stenosis of aqueduct of sylvius, talk with your doctor about the most current treatment options as well as signs that you may need immediate medical attention.

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