CEREBRAL SHRINKAGE: A 9-year-old Australian boy's brain has been shrinking since birth. He may have an unidentified neurodegenerative disorder. [Brain shown here is not Jason Egan's]
Image: John A Beal, WIkimedia Commons
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Jason Egan does not walk, talk or eat like most nine-year-olds. He gets around in a wheelchair and depends on a feeding tube threaded into his stomach. He makes signs with his hands to communicate and has mustered the word "mom" on occasion. Although he cannot always articulate his feelings, he clearly feels a great deal. He is often seen smiling and laughing, especially when his father pushes him around the block near their home in Victoria, Australia.
So far, no one has figured out exactly what is wrong with Egan. His doctors know that the boy's brain has been shrinking since birth, but he has tested negative for all known neurodegenerative disorders. Jason Egan may have a disease that is new to science.
At first, Egan's doctors diagnosed him with cerebral palsy—an umbrella term for a group of related movement disorders. Children with cerebral palsy may have difficulty standing, moving, hearing, seeing and speaking. Their muscles are unusually tense and refuse to stretch, and their joints lock in place; some children experience tremors or seizures as well. In many cases, such children's brains were damaged during pregnancy or childbirth, usually in a way that limited oxygen to developing neurons. Symptoms of cerebral palsy may appear as early as three months—difficulty crawling, for instance—and usually make themselves known by age two.
One of the defining features of cerebral palsy is that it is nonprogressive, which means that the severity of symptoms remains relatively constant over one's lifetime. Egan's symptoms, however, have changed over time. In 2009, around his sixth birthday, Egan began to lose what little sign language he had and stopped saying "mom." He started shaking and he did not seem to feel pain anymore, even when he injured himself.
Brain scans confirmed that something was amiss. In 2010 Victoria Rodriguez-Casero, a neurologist at The Royal Children's Hospital in Victoria, scanned Egan's brain and compared the new image with pictures taken several years earlier. Egan's whole brain was smaller than before—much smaller. When Egan's doctors first diagnosed him with cerebral palsy, they found that his cerebellum—an ancient part of the brain that controls movement—was unusually small. In many forms of cerebral palsy, the cerebellum is damaged or smaller than average, but it is not supposed to shrivel like a grape in the sun. And cerebral palsy certainly does not involve continual withering of the entire brain. Egan's original diagnosis was inaccurate. The brain shrinkage had gone unnoticed until then because once a patient is diagnosed with cerebral palsy, there is little reason to keep checking the brain—the organ is not supposed to deteriorate.
To figure out what was really ailing Egan, Rodriguez-Casero tested him for numerous neurological disorders. He did not meet the criteria for any of them. He did not have neuroaxonal dystrophy, a developmental disorder caused by a genetic mutation that impedes speech and movement in ways that resemble cerebral palsy. There was nothing wrong with his white matter, a mesh of glial cells and sheathed tails of neurons that transmit outgoing signals in the brain. After Rodriguez-Casero finished testing Egan for what she thought were the most likely diseases, she moved on to just about everything else: an exhaustive series of blood, genetic and electrophysiological tests for mitochondrial, metabolic, genetic and neural disorders—none of which offered anything conclusive.
"There is not one test he hasn't had done," Rodriguez-Casero says. "He doesn't qualify for cerebral palsy, because the disease is progressing. The bottom line is, I don't know yet and I hope we will figure out what's happening to him."
About two months ago, Egan received his most recent magnetic resonance imaging (MRI) scan. His brain seems to have stopped shrinking—it is roughly the same size as it was a year ago. The discovery brought relief, but not an explanation.
Right now, Rodriguez-Casero's colleague Richard Leventer and other neurogeneticists are analyzing the boy's DNA to identify any novel mutations. He may have a genetic mutation that doctors have not yet written into textbook medical knowledge because its role in disease is not well understood. "If we identify a new mutation, we will look worldwide for anyone who is studying that particular gene," Rodriguez-Casero says.
For now, Egan spends his time at home with his family, periodically visiting the hospital for brain scans and monitoring. "Often children with neurodegenerative disorders lose their awareness and their ability to interact and show emotion," Rodriguez-Casero says. "But not so with Jason. Even people who haven't met him before know how much he feels. You can see the child behind the disease."
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11 Comments
Add CommentCould it be some sort of Alzheimer variant? Are there tangles or plaques in the brain? Or Lewy bodies?
Reply | Report Abuse | Link to thisSound to me like he might have Egan's Disease (a never-before seen condition which will ulitmately be named for him).
Reply | Report Abuse | Link to thisjmtepper's suggestion has inspired me to suggest another possibility:
Reply | Report Abuse | Link to thishttp://www.medicalnewstoday.com/articles/231758.php
The human brain shrinks progressively as we age, whilst those of chimps do not.
jmtepper's suggestion also raises the possibility if Jason may be experiencing a variant of progeria, or some other "accelerated ageing" disease?
If the tests did not reveal any particular gene mutation, what about the mechanisms of interaction between different genes that influence cerebral development?
Could there be an environmental factor that induces an allergic response, in this case brain shrinkage rather than asthma or eczema? And as Jason grows chronologically older, he may be outgrowing this allergic response?
Further thoughts occur:
Reply | Report Abuse | Link to thisIs it possible that the brain shrinkage may be an auto immune condition not seen before by medical science, that targets the brain?
Has anyone scanned Jason's spinal chord for any changes in cross-sectional area?
Just inject human growth hormone into his brain.
Reply | Report Abuse | Link to thisPlease, someone help me with English: The cerebellum is an "ancient" or "ancillary" part of the brain?
Reply | Report Abuse | Link to thisBieber fever.
Reply | Report Abuse | Link to this
Reply | Report Abuse | Link to thisBoth.
Ancient in the sense that it's presence was proportionately larger in size and importance earlier in human evolution.
Ancillary in the sense that it is subordinate to the cerebrum portion of the brain in the presentation of our self that we define (inaccurately) as constituting human behavior.
And the magic question is "why?". I propose that we are watching epigentics at work - malnutrition that alters the 'gates' in parental DNA and is passed on, t the offspring, who are even less resilient than the parents... such that each succeding generation is less viable. Now I said malnourished but plenty of calories for energy production. Our brains require very distinct nutrients which they no longer get on the current nasty low fat/high carb fad. In our zeal to reduce the increase of CAD we have "fed the monster", created ramapant malnutrition and are now "reaping what we have sown"... and increase in ALL disease, reproductive problems and birth defects. The nutritional problem - high grain & carb diet, lack of essential saturated fatty acids and Omega 3, not to mention lack of essential minerals & other micronutrients. Calories DO NOT = nutrition. The good news - it's really easy to correct this problem and it requires no pharmaceuticals. Regarding children this damaged - until we try a Human species appropriate diet - we will not know. Vive vida!
Reply | Report Abuse | Link to thisIdiot (you)!
Reply | Report Abuse | Link to thisI have a 34 year old handicap child and she was born very normal, bright and showed exceptional abilities in speech and cognition being able to speak at 6 months old calling me daddy and herself gee gee which was our nick name for her. At 6 months she showed allergic reactions to something and the doctor decided it was a reaction to milk and corn. She was put on a soy based formula and the allergies subsided but she started a down ward spiral that lasted about a year.
Reply | Report Abuse | Link to thisWe took her to specialist all over the country to try to see what was going on and the initial label was cerebral palsy if for no other reason to make her eligible for benefits.
She continued to get worse to the point where she basically laid there. On the last evaluation the doctor told me and my ex-wife that she was globally retarded, would never feed herself, support herself, sit up, walk etc.. etc.. I could see the hope drain from my wife's face and with other children it was heart breaking because she never treated this one the same. I was in disbelief. This child said my name at 6 months old, there must be another answer.
Several weeks later on the way home from work, CBS radio announced that the formula my daughter was on was found to have a problem and was lacking choline or some chemical that was required for development and growth. I spoke to the pediatrician and he said to take her off of it, which (DUH) I did and she did not show any new allergic reactions.
Within 2 months my daughter took her first steps,but she had not developed any of the muscles needed to speak. She was in a special ed program now and she was coming home only able to grunt but was doing what appeared to be signing.
The education system decided that she should be able to speak (with out the developed muscles you really have to wonder how these people think) so we hired a speech pathologist and taught my daughter and the rest of the family (all 6 of us) sign language for the disabled. In two months my daughter could sign over 800 signs and in sentences and one of the first signs was I love you. I had tears. At 9 years old she began to speak, not as clear as all of us but clear enough and with a good range of vocabulary. Better than most adults I know. She is retarded, damaged but happy and if there is something in this child's diet that is at the root of the problem I pray the family keeps their ears and hearts opened.