Porencephaly Overview

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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
Elisabeth Lasserve-Tournier
Elite in Porencephaly
Elisabeth Lasserve-Tournier
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.

Advanced in Porencephaly
Dr. Jack P. Rock
Neurosurgery
Advanced in Porencephaly
Dr. Jack P. Rock
Neurosurgery

Henry Ford Health System

2799 W Grand Blvd, 
Detroit, MI 
313-876-2241
Languages Spoken:
English
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Accepting New Patients
Offers Telehealth

Jack Rock is a Neurosurgery provider in Detroit, Michigan. Dr. Rock is rated as an Advanced provider by MediFind in the treatment of Porencephaly. His top areas of expertise are Meningioma, Pituitary Tumor, Prolactinoma, Balloon Sinuplasty, and Awake Craniotomy. Dr. Rock is currently accepting new patients.

 
 
 
 
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Advanced in Porencephaly
Dr. Paul L. Penar
Neurosurgery
Advanced in Porencephaly
Dr. Paul L. Penar
Neurosurgery

University Of Vermont Medical Center Inc

111 Colchester Ave, 
Burlington, VT 
802-847-0000
Languages Spoken:
English
See accepted insurances
Accepting New Patients

Paul Penar is a Neurosurgery provider in Burlington, Vermont. Dr. Penar is rated as an Advanced provider by MediFind in the treatment of Porencephaly. His top areas of expertise are Meningioma, Hydrocephalus, Normal Pressure Hydrocephalus, Deep Brain Stimulation, and Awake Craniotomy. Dr. Penar is currently accepting new patients.

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What are the latest Porencephaly Clinical Trials?
Longterm Outcome of Children With Neonatal Intra-Ventricular or Intra-Cranial Hemorrhage (IVH, ICH)
Longterm Outcome of Children With Neonatal Intra-Ventricular or Intra-Cranial Hemorrhage (IVH, ICH)
Enrollment Status: Recruiting
Publish Date: January 12, 2017

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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Who are the sources who wrote this article ?

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