What is the definition of Hydrocephalus Autosomal Recessive?

Hydrocephalus autosomal recessive disorder is a rare inherited (genetic) condition in which an increased amount of cerebrospinal (CSF) fluid accumulates in the brain, causing an enlargement of the ventricles in the brain, which, in turn, creates increased pressure on the brain. Autosomal recessive means that the disorder was inherited from both parents who are carriers of the mutated L1CAM gene that causes a narrow passage between the third and fourth ventricles of the brain. Hydrocephalus autosomal recessive may occur alone as a congenital disorder or in combination with other malformations.

What are the symptoms for Hydrocephalus Autosomal Recessive?

Symptoms of hydrocephalus autosomal recessive disorder include a rapidly increasing head size or unusually large head, downward positioning of the eyes (sunsetting), lethargy, muscle weakness, drowsiness, irritability, bulging soft spot (fontanelle), seizures, and delayed development. If untreated, hydrocephalus autosomal recessive disorder may result in blindness and cognitive deterioration.

What are the current treatments for Hydrocephalus Autosomal Recessive?

Treatment for hydrocephalus autosomal recessive disorder involves surgical placement of a shunt that drains the excess cerebrospinal fluid from the brain, usually into the abdominal cavity. Some patients with hydrocephalus autosomal recessive disorder may be treated surgically with third ventriculostomy, in which a hole is created in the floor of the third ventricle of the brain to allow cerebrospinal fluid to bypass the obstruction to be reabsorbed.

There is no recent research available for this condition. Please check back because thousands of new papers are published every week and we strive to find and display the most recent relevant research as soon as it is available.

Clinical Trial
  • Status: Recruiting
  • Participants: 4000
  • Start Date: September 2009
Congenital Muscle Disease Patient and Proxy Reported Outcome Study
Clinical Trial
  • Status: Recruiting
  • Intervention Type: Other
  • Participants: 800
  • Start Date: November 2013
The Global FKRP Patient Registry