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Pachygyria

What is Pachygyria?

Pachygyria is a congenital malformation of the cerebral hemisphere causing developmental delay and seizures.

Human nerve cells are called neurons. The brain is made up of millions of neurons that communicate with each other, making the brain the neural processing center. The cortex is the outer layer and largest part of the human brain. The brain cortex is responsible for many higher brain functions and processes such as thought, perception, memory, and conscious movement. Because of the complexity of the functions of the human brain, it requires a large surface area. As a result, the human cortex is highly folded to expand the surface area without increasing the size of the brain. The appearance of the human brain includes many grooves or sulci that surround a ridge of cortical tissue or gyri. As the brain develops throughout an individual’s life, neurons migrate from their “birthplace” to where they are destined to function within the brain. This neuronal migration also controls the folding of the cortex. Pachygyria is a cortical malformation due to abnormal migration of neurons in the developing brain. Pachygyria refers to a condition where the sulci are shallower, fewer in number, and surround the broad, flat gyri. Pachygyria may occur alone in the isolated form or as a part of another syndrome. The symptoms of pachygyria varies, including moderate to severe developmental and motor delays, seizures, poor muscle tone and control, small head size (microcephaly), and difficulty swallowing and eating. Various inheritance patterns have been reported for pachygyria. It is more often secondary to acquired brain structure injuries that direct neuronal migration. Treatment is symptomatic and supportive.

 

Synonyms

  • Pachygyria

Pachygyria is a congenital malformation of the cerebral hemisphere causing developmental delay and seizures.

Human nerve cells are called neurons. The brain is made up of millions of neurons that communicate with each other, making the brain the neural processing center. The cortex is the outer layer and largest part of the human brain. The brain cortex is responsible for many higher brain functions and processes such as thought, perception, memory, and conscious movement. Because of the complexity of the functions of the human brain, it requires a large surface area. As a result, the human cortex is highly folded to expand the surface area without increasing the size of the brain. The appearance of the human brain includes many grooves or sulci that surround a ridge of cortical tissue or gyri. As the brain develops throughout an individual’s life, neurons migrate from their “birthplace” to where they are destined to function within the brain. This neuronal migration also controls the folding of the cortex. Pachygyria is a cortical malformation due to abnormal migration of neurons in the developing brain. Pachygyria refers to a condition where the sulci are shallower, fewer in number, and surround the broad, flat gyri. Pachygyria may occur alone in the isolated form or as a part of another syndrome. The symptoms of pachygyria varies, including moderate to severe developmental and motor delays, seizures, poor muscle tone and control, small head size (microcephaly), and difficulty swallowing and eating. Various inheritance patterns have been reported for pachygyria. It is more often secondary to acquired brain structure injuries that direct neuronal migration. Treatment is symptomatic and supportive.

Acknowledgement of Pachygyria has not been added yet.
Prevalence Information of Pachygyria has not been added yet.
Name Abbreviation
Pachygyria Incomplete lissencephaly, Isolated pachygyria

During normal embryonic growth, unspecialized or immature cells differentiate into neurons and migrate from their place of origin deep in the brain to the surface of the brain. This process controlled by chemical signals and six layers of nerve cells form in the brain. The process of neuronal migration can begin during the second month of gestation. Pachygyria is a neuronal migration disorder which occurs when brain cells do not migrate properly, leading to neurons settling on the outside of their designated locations. In pachygyria, the impaired migration to the surface of the brain causes the cortex to remain underdeveloped, resulting in to an incomplete development of gyria. Correct positioning of the neurons are essential to normal brain function. Thus, affected individuals with pachygyria have developmental and motor delays. In pachygyria, all six layers of the brain are present. However, the volume and the number of cells in the sixth layer is diminished and there are less cells in the second and the fourth layers.

Pachygyria can be caused by genetic or environmental factors that impair the development of the brain cortex. Environmental factors may include viral infections of the fetus during pregnancy and insufficient blood flow to the fetal brain which results in inadequate oxygen supply to the brain. Several defective genes have been identified in individuals with abnormalities of cortical development including KIF5C, KIF2A, DYNC1H1, and TUBG1. The most common gene defect in pachygyria is the R264C alpha-tubulin gene.

The signs and symptoms of pachygyria vary among affected individuals. Small head circumference (microcephaly), seizures, delayed mental development, and poor muscle tone and motor function are common symptoms. Affected individuals may have difficulty swallowing, articulating speech, swelling in the extremities, and blindness. Most affected infants appear normal at birth, although in some cases dysmorphic facial features may be present.

Name Description
Delays in mental and motor development Delays in mental and motor development
Delays in holding head upright, talking, crawling, and walking. Delays in holding head upright, talking, crawling, and walking.
Poor muscle tone. Poor muscle tone.

Diagnosis of pachygyria in based on clinical and radiological findings. Diagnosis usually relies on the appearance of the brain in Magnetic Resonance Imaging (MRI) and computed Tomography (CT) scans.

MRI is a common diagnostic tool for pachygyria as it provides a high contrast image that allows for a more accurate differentiation of the grey and white matter. On MRI, a brain affected by pachygyria has a thickened cortex, with a few, large, and broad gyri. This allows the identification of abnormalities within the cortex and within the distribution of gray-white matter, which have diagnostic value. The cortical abnormalities in the cortex include a single or multiple cortical areas where the gyri are abnormally thick and broad, and the grooves between these gyri are shallow. Such abnormalities are mostly present in the frontal region of the cortex (frontal lobe), the frontal top regions (frontoparietal area), and the frontal side regions (frontotemporal regions) of the brain. In the gyri of these areas, gray matter is abnormally increased and the interface between the cortical white and gray matter that is smooth versus normal interdigitations. The non-pachygyric regions are normal and sometimes atrophied.

CT scan provides a higher spatial resolution which visualizes cortical malformations better than MRI.

EEG abnormalities can also provide more information for diagnosis of pachygyria. These abnormalities include generalized high-amplitude fast activity, high-amplitude sharp- and slow-wave complexes, and a pattern consisting of bursts of sharp waves alternating with periods of electrocerebral depression. The high amplitude fast activity is most common in pachygyria and is abnormally rapid for the age. Finally, somatosensory evoked potential has been suggested to provide supplementary information that aids in predicting the neurologic outcome of individuals affected by pachygyria.

The treatment of pachygyria is mostly symptomatic. Speech therapy, behavioral therapy, and occupational therapy are helpful. Symptomatic drug therapy can help to control specific symptoms in each individual such as seizures.

The prognosis of pachygyria depends on the underlying cause and the extent of malformation in the cortex and the subsequent neurological deficits. Children with isolated pachygyria can live past childhood and into early adulthood. However, children with dysmorphic facial features tend to have shorter lifespans, more severe symptoms, and overall poorer outcome.

Tips or Suggestions of Pachygyria has not been added yet.

National Center for Advancing Translational Science. Pachygyria. Available from https://rarediseases.info.nih.gov/diseases/7300/pachygyria

The Agyria-Pachygyria Complex: A Spectrum of Cortical Malformations Jean Aicardi, MD Liang J, Lee W, Young C, Peng S, Shen Y. Agyria-pachygyria: clinical, neuroimaging, and neurophysiologic correlations. Pediatric Neurology. 2002;27(3):171-176. https://doi.org/10.1016/S0887-8994(02)00401-0

Byrd S, Osborn R, Radkowsk M. The MR evaluation of pachygyria and associated syndromes. European Journal of Radiology. 1991;12:53-59.

Kumar R, Ramu.V, Kumar R, Sumalatha N, Murali G. Pachygyria: A Neurological Migration Disorder. International Journal of Allied Medical Sciences and Clinical Research (IJAMSCR). 2013;1(1):31-33. Available from http://ijamscr.com/sites/default/files/articles/IJAMSCR-13-107%20Rajesh%20Kumar.pdf

 

 

How's Everyone doing? Created by msajmlw
Last updated 3 May 2023, 11:36 PM

Posted by msajmlw
3 May 2023, 11:36 PM

i noticed this group been inactive for a while. 

I would like to keep in touch with the group  my daughter just diagnose in Pachygryia, and i would really like some helps and tips or guidance as a new mom i am at lost at the moment.

pachygyria Created by mimi42
Last updated 8 Jun 2011, 03:01 PM

Posted by meemaw
8 Jun 2011, 03:01 PM

Pachygyria is a neural tube defect. One of the causes of Neural tube defects are abnormal homocysteine levels in the mother during pregnancy. My family history is this-maternal grandmother had a stroke in her 40's. 2 of her daughters (my mom and her sister) had strokes in their 40's. My sister had a fatal heart attack at age 42. 2 of my other sisters have abnormal homocysteine levels, and treat it with b complex vites and folic acid, I believe. My sister who died of a heart attack's oldest daughter has MTHFR, which is a genetic thing with abnormal homocysteine levels. The website below gives some pretty good information. I know they found this mutation by doing a genetic test, so it is likely that my 2 sisters have the mutation(s) (there are 2) as well. It's probably a good idea to get tested. One of my sister's with homocysteine issues grand daughter had a stroke some time between birth and 3 years old, and yes, it has been found that she also has the MTFR mutation. http://en.wikipedia.org/wiki/MTHFR I'm sure there are other causes, but my family history has been riddled with homocysteine issues. If you have the opportunioty to get checked, you can either have the genetic test for the MTHFR, or a homocysteine challenge to check your levels.

Posted by summerallyear
7 Jun 2011, 12:11 PM

I've often wondered what causes pachygyria as well, but the only answer I got was that "it just happens" and was probably around 12 weeks gestation. That is all I have been told, and can't find many answers either.

Posted by off2cthwzrd
7 Jun 2011, 03:01 AM

Just for an update...we saw a Urologist and she ordered an ultrasound and x-ray of my daughter's kidneys and bladder to make sure there wasn't anything wrong that may be causing her to not feel when she has to urinate. Those tests were normal!! :o) She also referred us to a Gastroenterologist which we are seeing tomorrow so we can get some help with her bowels. She is still in diapers, still has no interest whatsoever in using the toilet. She'll be going into Kindergarten in the fall and I'm just so scared for her that she'll be made fun of at that age. Please keep the prayers coming that the doctors will be able to figure it out and she'll be out of diapers soon. I'll continue to pray for all of you as well. Just out of curiosity, does anyone know what causes Pachygyria? All I know is it happens during the first trimester.

View Full Thread (28 more posts)
Vagus nerve stimulator Created by JrsDad
Last updated 10 Mar 2011, 01:54 AM

Posted by JrsDad
10 Mar 2011, 01:54 AM

My son is 13 and has pachy, he's had seizures since birth. Medicine helps but he seems to be having them more frequently. His neurologist has suggested a vagus nerve stimulator. He is nonverbal and it is so hard to know how he is feeling. Sometimes it's hard to make a decision and not know if it's the right thing to do. Can anyone give me input on this device?

Baby w/ pachy Created by samisaacson
Last updated 10 Jan 2011, 02:19 PM

Posted by samisaacson
10 Jan 2011, 02:19 PM

Hunter has not been doing very well he has not met his milestones the seizures have been a lot worse since August. Hunter has a seizures syndrome called Otahara Syndrome it is very resistant against all seizures meds. Hunter is on 5 seizure meds and he still has 2 - 4 seizures a day. Right now we are working with Palliative Care (The Wings Team) since Hunter has not been doing very well. So as of now we are hanging onto every moment with our little guy he is now 11 months we almost lost him when he was 9 months so glad we got to spend his 1st Christmas with him. Please check out updates on our little Hunter at his Caringbridge http://www.caringbridge.org/visit/hunterisaacson Samantha Isaacson

Posted by gillianharron1983
9 Jan 2011, 03:13 PM

Sam, I'm wondering how your son is getting on now? Our son was diagnosed shortly after birth. He's now 10 months. He's siezure free and like your soon seems to have perfect hearing and vision. He's not yet able to sit unaided (throws himself back and doesn't find his centre) but he is very interested in his environment, reaching out for everything, passing objects between hands. He's happiest on his toes bouncing. I'm interested to know if other pachy babies reached the sitting milestone?

Posted by akovacs62
10 Apr 2010, 01:32 PM

Hi Sam, My daughter, who is now 22 months old, started having seizures at 2 months old and wasn't diagnosed with Pachygyria until 1 year old. Her seizures were mostly under control by 1 year old. She did ok with her milestones until around 5 months old. But is now delayed. Her hearing is fine, but her vision is impaired, but improving. I hope your son continues to do well. It seems like the past two years have just been "wait and see how she does" - no one knows what to tell you what to expect, which is very frustrating. Good luck to you guys Amy

View Full Thread (1 more posts)
Eating issues... Created by kellihernandez
Last updated 6 Apr 2010, 07:15 PM

Posted by kellihernandez
6 Apr 2010, 07:15 PM

Hello, I'm new to this discussion board, but I am not new to the pachygyria disorder. My stepson, Michael, was diagnosed with it when he was 2 years old. He is now 7. Since then, we have done the best we can in seeing that he receives continuous and excellent therapy. However, we are still experiencing difficulty with his eating. He doesn't chew very well, and swallowing is very difficult for him. We currently puree his foods (and at least once a day try more textured foods in trying to help him develop the skills necessary to eat), but in general, he doesn't get as many calories in a day as he should receive. We supplement his foods with pediasure, but I've never seen him eat more than a cup of food at one sitting. Sometimes, when he eats a cup of food and drinks some milk, I'll think, "Wow, he's doing great today!" and then he throws it up. It's frustrating, to say the least, as it takes a long time to get him to eat anything more than one or two bites of food. His therapists are also experiencing similar issues with him. I am very concerned that his lack of nutritional health is actually hurting his ability to improve. Are there others dealing with this issue? How have you overcome it? What meal plans are you using? If I could just get Michael to eat, then I believe I could be much more hopeful about his future.

link to great source of info.. Created by meemaw
Last updated 22 Mar 2010, 12:08 PM

Posted by meemaw
18 Mar 2010, 12:00 PM

I found this link very informative. Many people are confused, even after they see specialists, because so little is known about pachygyria. This link provides alot of information about it. Many people don't know about the different levels of involvement, and this link explains them a bit. I used to belong to a yahoo group that closed down, but there was a girl who belonged to the group, and she had pachygyria. I found her to be a source of hope and inspiration. Her name is Sarah Dunion, and I'm working on getting in contact with her. She lives in the New England states somewhere, and she is an advocate for those with disabilities. I want to try to post some links of hers, and maybe see if she will come on board here.

Posted by meemaw
17 Mar 2010, 01:01 PM

http://www.candicelange.com/

from Pennsylvania? Created by akovacs62
Last updated 22 Mar 2010, 12:05 PM

Posted by meemaw
22 Mar 2010, 12:05 PM

We (My grandson Bradley and his momma Summerallyear) are from Lancaster County, and Bradley was diagnosed at St. Christopher's in Philadelphia.

Posted by akovacs62
20 Mar 2010, 02:58 PM

Hi Meemaw I just saw that you are from Pennsylvania as well. Is that where your grandson lives. We are from Pittsburgh, just wondering if you were from this part of the state and if your grandson went to Children's Hospital in Pittsburgh. Amy and Olivia

Welcome ! Created by meemaw
Last updated 21 Mar 2010, 02:31 PM

Posted by summerallyear
21 Mar 2010, 02:31 PM

Hi, Mom!!! ;-) I haven't gotten a chance to write here yet, but I'll get to it soon. To those of you who are wondering what the heck is going on, "Mee-Maw" is the grandmother of my son who has pachygyria. My son's name is Bradley, and he will be eight years old this summer. Bradley has two younger sisters who are five and three, and I believe he's a typical big brother to those girls, as he's very protective, but also the one who picks on them. LOL. Anyway, Bradley was diagnosed with pachygyria when he was eight months old and has been receiving occupational and speech therapy since then, as well as speech therapy since he was two years old. Bradley also has epilepsy, although he's only had one pretty bad seizure, the EEGs keep coming back abnormal, so he's taking medication to help prevent any further seizures. Anyway, Bradley is a very active boy, and although he struggles with math, reading, writing, and some physical activities, he's probably the most loving and active boys I've ever met. He loves watching football and hockey (Eagles and Flyers :-) ), playing video games (typical eight-year-old boy thing), and absolutely LOVES playing outside... doing anything, really. He loves riding his scooter, playing anything with a ball, running, and helping with yardwork... imagine that! He's a wonderful helper, and feels great pride in his accomplishments. Bradley is also a Tiger Cub Scout and plays t-ball and coach pitch baseball in the spring. We try to keep him active and involved with other kids as much as possible, and he seems to be very well known at his school. These things were once a HUGE worry of mine... and I'm so very thankful that he's been able to fit in pretty well even with some of the setbacks he's had to and continues to face. Anyway, I've got more I could write, but not enough time at the moment to do so. Thanks for welcoming me to the group!

Posted by meemaw
19 Mar 2010, 11:57 AM

Hi Summerallyear ! Welcome to the Pachygyria group !

pachygyria Created by akovacs62
Last updated 26 Jan 2010, 07:05 PM

Posted by mimi42
26 Jan 2010, 07:05 PM

hi, Amy....do not despare....you are doing all the right things. keep her in therapy as it helps your little one and you too. it is nice to hear them say that she is improving, since we tend to need to hear it from someone else. my grandson is 2 and a half. he progresses daily and is truly a blessing. God has plans for these little ones and with the love and support from families they are able to be all HE intends them to be. mason will start school next school year PPCD. we have an awesome one here at the school that i teach at. God Bless.

Posted by akovacs62
23 Nov 2009, 01:11 AM

Hi, my name is Amy and my 17 month old daughter Olivia was diagnosed with pachygyria at 1 year of age after having seizures since 2 months old. Both hemispheres of her frontal lobe are affected by the pachygyria. After an extremely difficult year, the seizures are finally mostly under control and she is doing pretty well. She is delayed, but gets therapy and tries very hard. She is continuously progressing, but very slowly. She is pretty wobbly and seems spacey alot, but I sometimes attribute that to her 3 seizure meds. I would love to talk to someone who understands what we are going through. Thanks

Pachygeria Created by Barbiedoll
Last updated 28 Sep 2009, 04:46 AM

Posted by Barbiedoll
28 Sep 2009, 04:46 AM

I am a grandmother of a beautiful 11 month old boy soon to be a 1 year old in Oct. He has been diagnosed with pachygeria. He doesn't sit up alone yet, makes sounds, loves peek-a-boo with family. Giggles and is very attentive. We have been told he is deaf as well. He doesnt eat any cereal or baby foods. Gags and cries and has difficulty in swallowing other than breast fed milk. Very happy and quiet baby. Don't know what the future will bring for "Mason Ray" but we love him dearly and hope to help him overcome his difficulties, and disabilities as much as possible as he grows. He is still very small, about the size of a 5-6 month old. Would like to hear from others with this affliction and how you cope with it all. My son and wife are trying their best. He is working with early intervention with therapists to help him progress. Any information on this rare disorder and any helpful information on this subject would be greatly appreciated. There seems to be so little about it available except for technical medical. Something that the average parent and grandparent can understand is more helpful.

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Community User List

I am father of 15 years old girl diagnosed with pachygyria at the age of 2 years.

I am father of 15 years old girl diagnosed with pachygyria at the age of 2 years.

granddaughter diagnosed with lissentephaly pachygyria, cp 4 limb, pvl
I am a 49 year old mother of two boys ages 9 and 12, My self and my two boys have HHT. My 12 year old also has Pachygyria.
I have a daughter that has pachygyria, although, the doctors say it is a mild case she is still mentally diasabled and has a seizure disorder and awful rages.
Hi.

 

 

My name is Jamie Panek. I am 34 years old and live right outside of Philadelphia, PA. I have a wonderful, handsome and smart, almost 4 year old son, Kaleb.

 

 

At 6 months...
I am a mother with a 14 year old son who was diagnosed with Pachygyria.
Our son John is 4 years old now. He was first diagnosed with Microcephaly (small head) when he was 2 months. As time drew nearer with his delayed development. His Neurologist wanted to do an MRI at...
My son was diagnosed with pachygria 12 years ago. We live by ourselves in San Antonio, but I believe my son could possibly be the happiest child I know.
My son is 2 and has been diagnosed with Pachygria without the seizures.

 

 

I am seeking a second opinion. He has had an MRI, no brain scan.

 

 

I am frustrated because there is...
Looking to adopt a special needs child, and would like more information about pachygyria.
my 1yr old daughter having pachygyria with slow motor development.need some expert to advice about take care and any possibilities can happen to her in future.please advice.
I am the Mom of a 14 year old daughter with Pachagyria. I have never found another Parent or caregiver with a child of the same condition. This year my daughter suffered a string of seizures which...
I have a 2 month old son that has been diagnosed with pachy.

 

Looking for some support.

 

He has had seizers since the moment he was born, has not been easy!!! In and out of 2 different...
Have had 5 pregnancies 1st child sam now aged 17yrs is really academic, 2nd pregnancy resulted in delivery at 20wks due to anencephaly, 3rd pregnancy was a miscarriage, 4th pregnancy resulted in...
My Grandson has pachygyria, and is 7 years old.
My son was diagnosed in May with Pachygyria at 18 mos. from an MRI that we had done. He is turning 2 in two weeks and is doing just fine. He has a developmental delay, receives PT, OT, and ST which...
I am the grandmother of two wonderful babies, one of which has been diagnosed with pachygyria. he will be 2 years old this weekend. he is not walking, nor crawling. We changed pediatricians because...
I am a father to an 8 year old boy with pachygyria.
I'm a mother of a 5 year old girl, Allison. She was diagnosed with pachygyria at 15 months. She hadn't started to walk or even crawl by her first birthday so the pediatrician referred us to a...

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