Double Cortex Syndrome
What is Double Cortex Syndrome?
Double Cortex Syndrome is a rare brain disorder that can cause mental retardation, learning disabilities, cognative disabilities and epilepsy due to an extra layer of nerves developed under the brain cortex. The neurons migrate abnormally and affects brain development. The most common cause is a mutation in the DCX gene. X-linked dominant inheritance pattern has been observed, along with some sporadic cases. Most cases affect females and is congenital, meaning from birth. The condition is called “double cortex” because the bands of grey matter within white tissue can be seen. The disease can manifest in varying degrees of severity. It can lead to different symptoms from normal intelligence with no epilepsy to cognitive disability with epilepsy.
Synonyms
- Double Cortex Syndrome
Double Cortex Syndrome is a rare brain disorder that can cause mental retardation, learning disabilities, cognative disabilities and epilepsy due to an extra layer of nerves developed under the brain cortex. The neurons migrate abnormally and affects brain development. The most common cause is a mutation in the DCX gene. X-linked dominant inheritance pattern has been observed, along with some sporadic cases. Most cases affect females and is congenital, meaning from birth. The condition is called “double cortex” because the bands of grey matter within white tissue can be seen. The disease can manifest in varying degrees of severity. It can lead to different symptoms from normal intelligence with no epilepsy to cognitive disability with epilepsy.
Double Cortex Syndrome is a rare disease with over 200 cases reported in scientific literature. Over 90% of affected individuals are female.
| Name | Abbreviation |
|---|---|
| Double Cortex Syndrome | Subcortical band heterotopia, Double Cortex, DC |
Double Cortex Syndrome is most commonly caused by a mutation in the DCX gene. It can also be caused by a LIS1 gene deletion on chromosome 17. The DCX gene is normally responsible for the correct migration of neurons during embryogenesis. Incorrect neuronal migration can result in abnormal brain development and dysfunction.
Symptoms vary among cases and can vary in severity. The severity is shown to be correlated with the thickness of the grey matter band. Some affected individuals have intellectual disabilities and severe epilepsy, while other affected individuals have normal intelligence and mild epilepsy. Dysarthria, hypotonia, and poor fine motor skill can also affect some individuals. Dysarthria is a speech disorder caused by weak muscles; making it difficult to speak. Hypotonia is low muscle tone; there is no tension or resistance in the muscle. Poor fine motor skill is the lack of coordination and synchronization of small muscles, such as the hands and fingers.
| Name | Description |
|---|---|
| Headaches | Persistent extremely bad headaches. |
| Seizures | Seizures |
Diagnosis requires cerebral Magnetic Resonance Imaging (MRI) results that clearly show the heterotopic band or the “double cortex”. Developmental delay, cognitive impairment, seizures, and a familial history fitting with a X-linked pattern of inheritance are often used in combination with MRI evaluation for a more confidence diagnosis. Genetic sequencing can confirm the DCX gene mutation and/or the LIS1 deletion.
After the diagnosis of Double Cortex Syndrome is made, a number of evaluations are usually performed for further assessment: EEG (electroencephalogram), an ophthalmologic evaluation, and an assessment of motor skills, cognition, and speech.
Management of the condition is mostly focused on controlling the seizures. Antiepileptic drugs (AEDs) are prescribed. Physical and/or occupational therapy can help with motor skills.
Individuals should be checked by a physician as soon as possible to determine appropriate action to manage seizures. Genetic counseling can provide individuals and families with information to help with understanding the disease and provide guidance for next steps.
DCX-Related Disorders. Hehr U, Uyanik G, Aigner L, et al. DCX-Related Disorders. 2007 Oct 19 [Updated 2011 Mar 24]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.Available from: https://www.ncbi.nlm.nih.gov/books/NBK1185/
Subcortical band heterotopia. National Centre for Advancing Translational Sciences & Genetic and Rare Diseases Information Center. https://rarediseases.info.nih.gov/diseases/1904/subcortical-band-heterotopia
Double Cortex Syndrome (Subcortical Band Heterotopia): A Case Report. Momen, A. A., & Momen, M. (2015). Double Cortex Syndrome (Subcortical Band Heterotopia): A Case Report. Iranian journal of child neurology, 9(2), 64-8. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4515345/
A pediatric epilepsy classic: “Double cortex” syndrome. Kaur, S., Ghuman, M. S., & Devarajan, L. J. (2015). A pediatric epilepsy classic: "Double cortex" syndrome. Journal of pediatric neurosciences, 10(2), 125-6. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4489054/
Double Cortex Syndrome. Millichap, J.G., 1999. Double Cortex Syndrome. Pediatric Neurology Briefs, 13(3), pp.17–18. DOI: https://www.pediatricneurologybriefs.com/articles/10.15844/pedneurbriefs-13-3-1/
Subcortical band heterotopia. NIH U.S National Library of Medicine & Genetics Home Reference. https://ghr.nlm.nih.gov/condition/subcortical-band-heterotopia#diagnosis
Human Epilepsy Genetics -- Neuronal Migration Disorders Study. https://clinicaltrials.gov/ct2/show/NCT00041600?cond=%22subcortical+band+heterotopia%22+OR+%22Lissencephaly%22+OR+%22double+cortex+syndrome%22+OR+%22neuronal+migration+disorder%22&rank=1
Last updated 29 Apr 2013, 01:48 PM
29 Apr 2013, 01:48 PM
My name is Morgen and my 11 year old daughter was recently diagnosed with DCS/SBH. There doesn't seem to be much information available about we as parents can expect as we move forward with this diagnosis. Is the Facebook group still active and is it "bad form" for me to invite myself? ;-) morgenflynn@gmail.com
17 Mar 2012, 08:34 AM
Hi, I just read your post allforchildsplay. Are you part of the group we have on Facebook? If not, let me know and I'll send you the link where you can be added. It's a private group. My daughter is 12 and recently got her first menstral. I've found an increase in seizures since then. Prior to that, my daughter was diagnosed with DCS when she was 2, which was a little after her first seizure. Or at least her first documented seizure. When she was around 9 years old, she started having convulsions and drop seizures. She began wearing a helmet to protect her head from damage. Two years ago she had brain surgery to help stop the drop seizures. It has worked, Thank God. She still has convulsions and "head drops" though. Meds don't seem to work for her. Let me know if you wish to join the group on Facebook. Many families are there and we have become a close knit family. We'd love to have you!
17 Mar 2012, 12:38 AM
My daughter is 13 yrs old and was diagnosed when she was 16months old after having her first KNOWN seizure. Looking back I think she was having them around 9 months but since they weren't convulsive .. we didn't recognize them. When she was younger she experienced ALOT of the same "meltdowns" you mentioned. She had NO meds from age 3 until 6 and NO seizures from age 18m until 6 when she had a grand-mal. Ironically after that grand mal is when she started TALKING and READING at an alarming rate :) :) Things are NOT always horrible. She has her MOMENTS and with puberty the seizures and mood swings have Increased. She was on just Trileptal from age 6 until 12 with very lil seizure activity those 6 years. She is reading at a 4th grade/5th g rade level..however comprehension of what she reads is lower. Her social skills are probably the most delayed but she TRIES so hard to fit in with her sister and peers. She is very active in Special Olympics and buddy sports. At times I feel like I have a 6yr old going through puberty instead of a teenager. I wouldn't trade her for the world. It takes ALOT of patience EVERY single day. There are so many I have heard from that say their child with Double Cortex cant walk, cant talk, has several seizures a day etc.... so I feel blessed that she is doing so well. Diet is a key factor ... when we get busy and eat out alot HELL breaks loose... so its best to have well balanced diet and STRUCTURE in the home.
Last updated 28 Apr 2013, 03:43 PM
28 Apr 2013, 03:43 PM
I see this is an old thread, but here goes. My name is Morgen and my 11 y.o. daughter was just diagnosed with DCS. Doctors act like it's no big deal and aren't forthcoming when I ask how many of these cases they see. I KNOW this is very rare and I want them to consult with other neuros to be sure we're doing all we should be. Their exaggerated familiarity with this condition is making me a little nervous. Has anyone else experienced this? Can anyone recommend a specialist in or around Virginia? My email is morgenflynn@gmail.com. Thanks so much! ~Morgen
28 Feb 2011, 10:58 PM
Hi Katrina, sorry for delay replying.When Genna was taking Topomax she lost a lot of weight, about a stone,about a seventh of her body weight, she completely lost interest in food and hardly ate a thing, she ended up taking nutritional milkshakes to try and stop her losing any more but struggled with those as well. She also began dribbling and leaning very markedly to the right.Her seizures changed in nature and seemed to gradually get worse and started to strongly affect the oxygen levels in her blood, another effect was for her to become like a walking zombie with little interest and interaction.It took a whole year to attain a working dose maintain it for a reasonable time and then decrease it again and it was a very difficult year for all of us. She is now back on epilim and lamotrigine which suit her a lot better and things have improved a lot, i think mostly due to her moving out of puberty (and changing meds back) , i'm glad to say all the side effects she suffered have gone or reversed and we have our daughter back with us x
21 Feb 2011, 11:39 PM
the yahoo group: 'SubcorticalBandHeterotopia@yahoogroups.com 'might be of help. the creator of the group has a daughter who is in around 40 years old.. i think. That group is fantastic!
Last updated 24 Mar 2011, 11:56 PM
24 Mar 2011, 11:56 PM
Hi all, I am asking where you are from as many parents and children living with DCS/ SBH are feeling very hisolated. Are you from Israel? Portugal? Any other country? get in touch, we would love to hear from you. Thank you all, Monica.
Last updated 14 Dec 2010, 07:54 PM
14 Dec 2010, 07:54 PM
Thank you Vince for your messages. I joined the facebook group. Hope to speak to you there.
13 Dec 2010, 08:58 AM
Angela, my daughter has 7 years old.so far no seizures thanks God. I understand your fears but I wanna tell you that everything will be fine.will be better for you if you enter in our comunity on facebook and talk with us.here we speak everyday about our children and their progress.also my daughter has a delay in speaking ( she is developed as a 4 -5 years old ) but during the time I hope everything will be fine.there are children who develop seizures and children who doesnt.as doctors still dont know too many about DCS our hope is to God help us. Here is the link on facebook. Come join us. http://www.facebook.com/home.php?#!/group.php?gid=202874095437
10 Dec 2010, 02:52 AM
Angela, Chloe's feeding problems improved once she started with solid foods. We had to work with her to get her to bring food to her mouth and hold her bottle but now she feeds herself and drinks from a bottle and sippy cup with no problems. For the first few months she did sleep a lot. She seems to have "outgrown" that as well. In fact she tends to take "cat naps" a lot of times rather than her full 2 hour nap. She also no longer has any problem keeping her head up. Seizures are our biggest fear at this point. Fortunately she has not yet had any but we dread the day when they start. As far as dealing with the situation, the key is to take things one day at a time. When I think about the big picture and what the future may hold it can be overwhelming. It's better to focus on the positives and the things that we actually have some control over. We love her so much and could never imagine our lives without her. She is just the sweetest little girl.
Last updated 27 May 2009, 09:27 PM
27 May 2009, 09:27 PM
Hello, I have taken your advise and really have been working hard on reinforcing positive behaviour. Things seem to be getting a bit better. My daughter seems to react quite well in working towards a reward every day. Well... not perfect, but I can see your point and it does work much better then just continuously telling her off. :) Thank you all! In regards to her regular change of medication... unfortunately it is necessary. Her epilepsy seems adapt to the medication and does not improve, she either develops side effects or the seizure become uncontrollable, we increase the dosage, things get better for a few weeks ... but then the cycle starts again, with new side effects or a new type of seizure. I am very happy with the doctors and every decision made we take time to discuss and look at the options together. She is on Topiramate and carbomazipane... sorry if misspelled.
19 May 2009, 12:46 PM
Hi Everybody, Welcome Monica to our little group. I think that it is a matter of learning how to deal with your daughters behaviour. As Shelle was saying reinforce the positive behaviour rather than the negative. When she gets attention from her negative behaviour she will continue to be BOLD just to get the attention. We went through the same so I know exactly how you feel.......it can be very very frustrating. It can also be very difficult to stop yourself giving out to her rather than ignoring the bad behaviour. Our daughter was in a similar position so we went to see a psychologist so as we could get the tools to deal with her behaviour. So signs that for the last two months she has been a different child. She has really been very good. I also think that it could have a lot to do with her seizure activityand what effect the seizures have on the brain.......our daughter has only been seizure free since February....the longest in three years, before that the longest was two weeks seizure free. Certainly our daughters problem behaviour comes in cycles, we are not sure what sets it off but we both can see elements of the problem behaviour returning at the moment. So we are really trying to reinforce the positive and we are doing our best to ignore the negative You were saying that she has been on a number of meds. why did they change them? or why do they keep changing them?? We were told that if you keep changing the med. from one to another that it will be harder to go back to one of those meds. should the need arise i.e. the children will become immune. So I am surprised that they didn't increase the dose rather than change the meds. If you want to email and have a chat any time feel free....... doublecortex@gmail.com ..... I have everyones email address. Talk soon, Dave & Niamh Dublin
18 May 2009, 12:40 PM
It has been very difficult to find other people dealing with this condition. I would like to get more information on all the other members’ experiences. My daughter has been on a very treacherous journey and I with her. She has changed so many medications, but nothing seems to help, in the last year things have been getting worse, not only her behaviour, her epilepsy but also it feels as if we can no longer do anything together. Please contact me. My email address is: m_romano@hotmail.co.uk
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Developmental Delay
Created by kmanley | Last updated 29 Apr 2013, 01:48 PM
Other Parents Coping W/DCS
Created by Shelle | Last updated 28 Apr 2013, 03:43 PM
where are you from?
Created by Monika | Last updated 24 Mar 2011, 11:56 PM
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