Familial porencephaly is part of a group of conditions called the COL4A1-related disorders. The conditions in this group have a range of signs and symptoms that involve fragile blood vessels. In familial porencephaly, fluid-filled cysts develop in the brain (porencephaly) during fetal development or soon after birth. These cysts typically occur in only one side of the brain and vary in size. The cysts are thought to be the result of bleeding within the brain (hemorrhagic stroke). People with this condition also have leukoencephalopathy, which is a change in a type of brain tissue called white matter that can be seen with magnetic resonance imaging (MRI).
Mutations in the COL4A1 gene cause familial porencephaly. The COL4A1 gene provides instructions for making one component of a protein called type IV collagen. Type IV collagen molecules attach to each other to form complex protein networks. These protein networks are the main components of basement membranes, which are thin sheet-like structures that separate and support cells in many tissues. Type IV collagen networks play an important role in the basement membranes in virtually all tissues throughout the body, particularly the basement membranes surrounding the body's blood vessels (vasculature).
Familial porencephaly is a rare condition, although the exact prevalence is unknown. At least eight affected families have been described in the scientific literature.
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
Elisabeth Lasserve-Tournier practices in Paris, France. Lasserve-Tournier is rated as an Elite expert by MediFind in the treatment of Familial Porencephaly. She is also highly rated in 22 other conditions, according to our data. Her top areas of expertise are Porencephaly, Familial Porencephaly, Sporadic Hemiplegic Migraine, and Moyamoya Disease.
Kazuhiro Haginoya practices in Japan. Haginoya is rated as an Elite expert by MediFind in the treatment of Familial Porencephaly. He is also highly rated in 32 other conditions, according to our data. His top areas of expertise are Familial Porencephaly, Porencephaly, Schizencephaly, and Spasmus Nutans.
Vikram Prabhu is a Neurosurgery expert in Maywood, Illinois. Prabhu has been practicing medicine for over 30 years and is rated as a Distinguished expert by MediFind in the treatment of Familial Porencephaly. He is also highly rated in 49 other conditions, according to our data. His top areas of expertise are Meningioma, Hydrocephalus, Familial Porencephaly, Awake Craniotomy, and Septoplasty. He is licensed to treat patients in Illinois. Prabhu is currently accepting new patients.
Summary: Intraventricular hemorrhage (IVH) is the most commonly recognized cerebral lesion on ultrasound in extremely preterm infants. Papile classification is commonly used to grade the severity of IVH. Grade III-IV IVH and other lesions noted on ultrasound including periventricular leukomalacia (pvl) porencephaly, and ventriculomegaly are well Documented to be associated with adverse neurodevelopmental o...
Published Date: September 01, 2011Published By: National Institutes of Health