Porencephaly
Symptoms, Doctors, Treatments, Advances & More

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.

Joseph W. Quillin
Experienced in Porencephaly
Experienced in Porencephaly

Texas Health Neurosurgery And Spine Specialists

3060 Communications Pkwy, Ste 100, 
Plano, TX 
Languages Spoken:
English
Offers Telehealth

Dr. Joseph Quillin believes that the practice of neurosurgery is a tremendous privilege. His focus is on durable symptom relief, patient quality of life, maximum safe tumor resection, and the prevention of further neurological damage for his patients. His advanced training in brain, spine, and skull base/cerebrovascular disorders has enabled him to care for some of the most complex patients in neurosurgery. Dr. Quillin specializes in neurosurgical oncology and skull base surgery, using techniques such as radiotherapy and minimally invasive endoscopic surgery to promote tumor treatment and removal. He has served the DFW area since 2021.Dr. Quillin earned his medical degree at Louisiana State University Health Sciences Center in Shreveport. He completed his neurological surgery residency and fellowship training in neurological oncology at Emory University in Atlanta, Georgia. He also completed additional fellowship training in skull base/cerebrovascular surgery at Rutgers University in New Brunswick, N.J. Away from the office, Dr. Quillin has served as an ad hoc reviewer for publications including NEUROSURGERY, World Neurosurgery, and the Journal of Neuro-Oncology. He is a member of the American Association of Neurological Surgeons and Congress of Neurological Surgeons. Dr. Quillin is rated as an Experienced provider by MediFind in the treatment of Porencephaly. His top areas of expertise are Meningioma, Pituitary Tumor, Brain Herniation, Endoscopic Transnasal Transsphenoidal Surgery, and Awake Craniotomy.

 
 
 
 
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Peter L. Roux
Experienced in Porencephaly
Neurosurgery
Experienced in Porencephaly
Neurosurgery

Bassett Medical Center

1 Atwell Road, 
Cooperstown, NY 
Languages Spoken:
English
Offers Telehealth

. Dr. Roux is rated as an Experienced provider by MediFind in the treatment of Porencephaly. His top areas of expertise are Brain Aneurysm, Hydrocephalus, Subdural Hematoma, Laminectomy, and Awake Craniotomy.

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