Learn About Porencephaly

What is the definition of Porencephaly?
Porencephaly is a rare condition that affects the central nervous system. People with Porencephaly develop fluid-filled cysts or cavities in the brain either before or shortly after birth. The severity of the condition and the associated signs and symptoms vary significantly based on the size, location, and number of cysts. Common features include developmental delay, reduced muscle tone (hypotonia), seizures, macrocephaly (unusually large head size), spastic hemiplegia, speech problems, delayed growth, and intellectual disability. Porencephaly is usually the result of damage from infection or stroke after birth. In these cases, the condition occurs sporadically in people with no family history of the condition. There is an inherited form of the condition called familial Porencephaly, which is caused by changes in the COL4A1 or COL4A2 genes and is inherited in an autosomal dominant manner.
What are the alternative names for Porencephaly?
  • Porencephaly
Who are the top Porencephaly Local Doctors?
Elite in Porencephaly
Elite in Porencephaly
Paris, FR 

Elisabeth Lasserve-Tournier practices in Paris, France. Ms. Lasserve-Tournier is rated as an Elite expert by MediFind in the treatment of Porencephaly. Her top areas of expertise are Porencephaly, Familial Porencephaly, Moyamoya Disease, and Cerebral Cavernous Malformation.

Neilesh K. Shah
Experienced in Porencephaly
Family Medicine
Experienced in Porencephaly
Family Medicine

Advocate Medical Group Primary Care

9550 W 167th St, Ste 100, 
Orland Park, IL 
Languages Spoken:
English

Neilesh Shah is a primary care provider, practicing in Family Medicine in Orland Park, Illinois. Dr. Shah is rated as an Experienced provider by MediFind in the treatment of Porencephaly. His top areas of expertise are Mesothelioma, Spontaneous Coronary Artery Dissection (SCAD), Schizencephaly, and Porencephaly.

 
 
 
 
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Allan H. Friedman
Advanced in Porencephaly
Advanced in Porencephaly

Duke Cancer Center Brain Tumor Clinic

20 Duke Medicine Cir, 
Durham, NC 
Languages Spoken:
English, German
Accepting New Patients
Offers Telehealth

Allan Friedman is a Neurosurgery provider in Durham, North Carolina. Dr. Friedman is rated as an Advanced provider by MediFind in the treatment of Porencephaly. His top areas of expertise are Glioma, Astrocytoma, Glioblastoma, Awake Craniotomy, and Laminectomy. Dr. Friedman is currently accepting new patients.

What are the latest Porencephaly Clinical Trials?
Longterm Outcome of Children With Neonatal Intra-Ventricular or Intra-Cranial Hemorrhage (IVH, ICH)

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...

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center