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CORTICAL DYSPLASIA AND HETEROTOPIAS
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CORTICAL DYSPLASIA AND HETEROTOPIAS

Hi All,
    I need a second opinion on my 2 months old daughter's MRI reports.As I failed to understand this report, I want to know answers for thousands of questions like if there is any diagonosis, surgery or medicine for cure, will she have severe retardness,is there a chance of tumor or hammorages, will she have seizures, will her head be  bigger than her body etc. Actually I received a report from the neurosurgeon which will explain the situation better. So here it goes ...........I(neurosurgeon) saw the baby in the neonatal nursery at Hospital(October 11th)At that time, Baby was known to have in utero ventriculomegaly and an ultrasound that was read by radiology as showing aqueductal stenosis.It appreared more to me to be consistent with corpus callosum agenesis.
     The baby has been home, doing well, eating, active, and gaining weight. She returns after 2 months with a soft, sunken fontanel and a head circumference that remains on the 5oth percentile. An MRI scan was done today and unfortunately shows heterotopias that line the ventricle as well as areas of cortical dysplasia. The ventricules are enlarged and there is partial agenesis of the corpus callosum.
     Unfortunately, her cerebral abnormalities are diffuse and widespread. There is no need for neurosurgical intervention, but the family may benefit from either neurology or developmental pediatrics. Also, consideration should probably be given to the genetics evaluation. So this is what the neurosurgeon says. I really want some help as I am helpless. Any help will be greatly appreciated PLEASE.

Thanks
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Avatar_n_tn
First of all, keep in mind that I am unable to diagnose you because I am unable to examine you, this forum is for educational purposes.    
   I am sorry to hear about the MRI report on your baby.  Wide spread cortical malformations (disorganization of the part of the brain that helps us think) often leads of developmental delay and seizures.  The malformations that line the ventricles are called periventricular heterotopias and have variable affects of cognition and may also contribute to seizures.  Seizures are often difficult to recognize in this age group and may be as subtle as eye rolling and may have no clinical signs at all.  The most common seizure type as this age is call a infantile spasm (bending at the waist with arms and legs extended).  Developmental delay is also more difficult to appreciate at this age, because normal babies also are not doing much at 2 months besides eating, sleeping and going the bathroom.  An experienced pediatric neurologist will be age to assess for some early signs of developmental/cognitive problems, but the final prognosis will take time.  It is impossilbe to tell without more information and examinations what exactly will happen, but you are at much higher risk for seizures and developmental delay (including mental retardation), though every child is affected differently.
I would recommend that you see a pedaitric neurologist at a major medical center, and obtain an EEG (electroencephalogram or "brain wave" test), to test for seizures.  I would also recommend a karyotype, and chromosome microarray.  Your neurologist may do additional testing as indicated by your exam.
I hope this has been helpful.
2 Comments
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Avatar_n_tn
Not a Dr and I cannot give you any answers to your worries, but I would strongly suggest that you contact the social work dept of the delivery unit you used or the neonatal unit you may have utilised.  This must be a very worrying time for you.  

I am a Mom of three, my youngest being 1yo.  I know when I was really sick post partum that is where we sought help and it was forthcoming.  

Hang in there, this will all become clear with time and support.  Seek the help you need, to understand what the Drs are telling you and advocate appropriately for your wee babe.

Hugs

Fiona
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