Archive for brain malformation
Zika study reveals how infection can cause microcephaly
Prenatal exposure to viruses capable of infecting the fetal brain, particularly in the first trimester, can cause a range of developmental defects in the baby. The Zika epidemic in Brazil during 2015-2016 posed an extreme case, causing hundreds of babies to be born with microcephaly, or an abnormally small head. Although cases have waned significantly, ... Read More
Rethinking cerebral arachnoid cysts through genomics
Cerebral arachnoid cysts are the most common mass-occupying brain lesion in humans. Some cause no noticeable symptoms and may just be incidental findings. Others are quite severe, causing hydrocephalus and potentially nerve damage; these clearly require surgery to drain the cyst fluid and relieve pressure on the brain. But a middle ground sits between these ... Read More
Beyond fluid buildup: Rethinking congenital hydrocephalus
Hydrocephalus is classically seen as a plumbing problem, the result of too much cerebrospinal fluid (CSF) in the brain or dysregulation of fluid flow. It is usually treated with shunts to drain the CSF, or with ETV/CPC, which makes a small hole to drain the CSF and burns off the choroid plexus tissue that produces ... Read More
A ‘pump’ gene’s surprising role in early brain formation
In polymicrogyria, the cortex of the brain has many irregular, small folds (gyria) and disorganization of its layers. Many affected children have severe developmental delay, intellectual disabilities, and epilepsy, and many need to use a wheelchair. Mutations in several different genes can cause this “overfolding of the brain” condition. Key takeaways The gene ATP1A3, associated ... Read More
The tiny choroid plexus protects the prenatal brain — but may also pass on inflammation from the mother
Floating in fluid deep in the brain are small, little-understood fronds of tissue. Two new studies reveal that these miniature organs are a hotbed of immune system activity. This activity may protect the developing brain from infections and other insults — but may also contribute to neurodevelopmental disorders like autism. Key takeaway This pioneering work ... Read More
Jack: My AVM story
Last spring, during my junior year of high school, I had a head collision during rugby practice. My coach recommended that I go to the emergency room for x-rays because I had a history of concussions. My parents took me to the hospital and the doctor there confirmed I had a concussion, and recommended that ... Read More