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    Lost parent looking for advice/what should we be asking neuro

    Good morning.

    New parent/member here, heads up this is a bit long ( sorry in advance).

    My son is 17 months old. Diagnosed with mild HIE at birth. Since then he has been diagnosed with both hyper/hypotonia, gross motor delay, macrocephaly ( 53cm/20.9 inched at 17 months, speech delay, mild myelnation delay and babbles but no words.

    Recently started having seizure like episodes( 3 in past 2 weeks). He also trips over nearly everything and tends to bump into walls etc.

    He has had 2 EEG’ that were normal before seizure like episodes ( 3rd schedule on 14th)and 2 MRI’s, most recent was last week.

    This is a copy paste of his MRI report. We are in the process of getting a 2nd opinion but we have to wait until Nov for the appointment.


    EXAM: MRI BRAIN WITHOUT CONTRAST.
    CLINICAL HISTORY: persistent developmental delay and macrocephaly ;Gross motor
    delay ;Increased head circumference ;Mild hypoxic ischemic encephalopathy
    (HIE)
    TECHNIQUE: Multiplanar multisequence MRI of the brain was performed without
    contrast.
    COMPARISON: 9/6/2018
    FINDINGS:
    No acute infarct, hemorrhage, or mass. Interval progression of myelination,
    within limits for age. However, white matter volumes remain slightly low with
    heterogeneous T1 and T2 signal. Focal areas of periventricular T2
    hyperintense, T1 hypointense signal in the periatrial white matter would be
    compatible with provided history of mild hypoxic-ischemic encephalopathy. More
    prominent enlargement of perivascular spaces with cystic/tubular morphology.
    Interval decreased enlargement of subarachnoid spaces bifrontally and at the
    vertex. There has also been improvement in appearance of mild ventriculomegaly
    and cavum septum pellucidum et vergae. Corpus callosum has a slightly gracile
    morphology. Hippocampal formations are relatively symmetric. Brainstem and
    cerebellum have normal in morphology.
    IMPRESSION
    1. Decreased but persistent enlargement of subarachnoid spaces.
    2. Mildly heterogeneous white matter signal, which could be seen with static
    or early progressive encephalopathies.

    While I’m not looking for diagnostic information I’m at a loss as to what questions we should be asking both his current neurologist and at the appointment for the 2nd opinion. His current neurologist blames all his issues on his macrocephaly.

    Any suggestions or advice on questions we should be asking his doctors?

    Thanks in advance for any help.

    #2
    ((((((Lostparent)))))) ~



    I'm glad that you found us, but I'm so sorry that your son has these complex issues. It is extremely overwhelming to seek answers for your child and feel as though you aren't receiving proper guidance and information on his condition.

    Do you feel that his current neurologist is incorrect that his issues correlate to macrocephaly? Has s/he given you justification for that diagnosis? Has s/he provided you with treatment information for macrocephaly? Would that treatment be similar or different, if there are other factors involved?

    Is your son taking any medications?

    The first thing I suggest is educating yourself about all of the issues and conditions mentioned in the MRI, if you haven't already started to do that. There is a lot there to digest, and I am not familiar with the terms, so I would have to look them up. I'm doing that these days for my husband's scan results, and it helps me to form questions for his doctor.

    Can you describe for us the kinds of "seizure-like" activity you son has had? There are a variety of types of seizures, and here is a helpful site on epilepsy:

    Only registered and activated users can see links., Click Here To Register...

    For seizures, I recommend that you consult a pediatric epileptologist.

    Only registered and activated users can see links., Click Here To Register...

    I find it useful to make a list of my questions to take with me to the doctor. Also, use your phone or other device to video your son's seizure-like activity, as well as his walking to show his gait, balance, etc. to the doctor. Make a collection of videos at various times of the day/night as a collage, so the doctor has an idea of a typical day for your son.

    In my rather lengthy experience, some doctors can be intimidating, particularly neurologists. I can't even count the number of neuros I've met over nearly 50 years, and I can't recall one of them, who didn't have superiority complex. So, do not be intimidated. Be informed to the gills and be prepared to ask questions with confidence.

    The more you research on the internet the various conditions and terms, the questions you need to ask will become clearer to you. I can't emphasize this enough. You have to become the expert on your son, because you are the expert on your son. No one knows him better than you do. Every decision you make for him must be informed, so that you know he is receiving the proper care and medical treatment. You are his voice and advocate. You are his expert.

    I often said to physicians treating my children, "You have thousands of patients. I have two." Sometimes, we have to prove to our children's physicians that we know what we're talking about, so that they respect us as the Leader of our child's Medical Team. Remember that and assert your position as Leader, because you are.

    Our Child Neurology (CN) forum was once filled with hundreds of parents in the early 2000s. We are smaller now, but we are loving, knowledgeable, and experienced.

    You found us. You're not lost anymore. You're not alone. Welcome to the CN family.

    Love & Light,



    Rose
    Mom to Jon, 49, & Michael, 32, born with an undiagnosed progressive neuromuscular disease. Angel Michael received his wings in 2003. Angel Jon received his wings in 2019. In 2020, Jim, their Dad, joined them.

    Comment


      #3
      Thank you for your Welcome and reply Earth Mother/Rose

      It is frustrating, especially seeing that he can't talk yet so it's really difficult to know what's going on that he can't tell us.

      These are the questions I have come up with so far, although some of terms I admit I am having trouble finding online.

      This message is being sent by Klaus Schall on behalf of Evan Schall

      Dr. Slaughter,

      We have some questions about the MRI result.

      The 1st MRI showed a minor mylenation delay, is this still present or a concern? From reading the report it seems to be in normal parameters.

      The 1st MRI report did not mention any lesions. From my understanding hyperintense and hypointense T1/T2 indicate lesions on MRI reports, with a probability of T1 hypointense being permant or scar tissue. Is there a possibility that these may indicate MS or any other chronic conditions.

      I seen periatrial mentioned in the report as a location of the lesions in the white matter. However I can not find much as to what periatrial means or what region of the brain it may refer to. When I do search parietal lobe often comes up. Are they similar or the same thing? If lesions are found there can that be a cause of the suspected vision problems he has or his constant tripping/running into things?

      In the impression it mentions heterogenous white matter signal which could be seen with static or progressive encephalopathies. Is there any indication of having such issues currently or in the future?

      Outside of the scheduled EEG do you anticipate the need for further testing in the immediate future?

      Is there anything that I may not of touched upon in the report that gives you any additional cause for concern?

      Regards,


      The issue we have is we felt our neuro has given up. She told us a few months ago she was out of ideas and reffered us to genetics, which we had a microarray and macrocephaly panel done and showed no abnormal results. So we go back to neuro and she basically insist it's his macrocephaly that's the issue.

      We do have 2 videos and she did not seem concerned but when we showed our sons pediatrician he reffered us to another hospital ( Cincinnati Childrens) which from my understanding has a highly rated neurology program. We just have to wait until Mid November for our appointment. So we are fortunate his pediatrician is on our side and we have a place to go for a 2nd opinion.

      From our understanding and research not a whole lot can be done about his macrocephaly, so far the cause has not been determined and his head just continues to grow. The typical causes such as hydrocephaly have been ruled out. Fortunately the rate of growth has slowed.

      Thanks again,

      Comment


        #4
        Doctors response to my questions. Next up after this is another EEG( had another seizure like episode yesterday)

        1. Myelination (where the white matter is becoming insulated), seems to be normal on this study which is good news. Also there is less space around the surface of the brain, and ventricles are a little less big than at last imaging.

        2. "Periatrial" and "Parietal" are not the same thing. The areas of white matter signal patchiness ("heterogeneous" signal) is in the white matter "surrounding the atria" (plural of atrium) of the lateral ventricles (= peri atrial). I think to summarize that finding, I would convey that the white matter signal is a little bit patchy around the ventricles.

        3. The white matter heterogeneity may or may not mean anything in the long term. I see this in some kids with mild delays and it eventually resolves, probably just is a variation of white matter development in those children; however alternate possibilities would be that it could reflect mild scarring (gliosis) in the white matter, or less likely, could represent a progressive (worsening) white matter condition. MS is extremely unlikely at his age but there are other categories of progressive white matter disorders that can affect children.

        Depending on Evan's continued developmental progress, we will probably plan to repeat the MRI at least once more (probably about yearly) to see how this white matter patchiness is progressing. I do NOT see any features/symptoms in Evan that outwardly point me toward any progressive process, but I cannot absolutely rule it out at this point.

        There are hundreds of different progressive conditions which could affect white matter, so for parents, I would try not to be too focused on researching any of these conditions until we have more information over time on how Evan is doing.

        We will discuss in more detail at next followup visit, and I can show them the images then if they'd like to see. Nothing to do for now."

        Comment


          #5
          Hi, Welcome to BrainTalk! I have a condition called Cerebral Palsy. Cerebral Palsy and epilepsy often occur together so I'm wondering if your sweet son has a mild form of my disability? My disability is not progressive but I had similar motor delay.

          Here's a description of CP: Only registered and activated users can see links., Click Here To Register...
          Cerebral Palsy (often shortened to "CP") is a brain injury that happens before, during, or shortly after birth. It can be caused by lack of oxygen to the brain or conditions such as a fetal brain hemorrhage, which is similar to a stroke, but in most cases the reason for the brain damage is unknown. Cerebral Palsy affects the motor areas of the brain in a vast amount of ways depending on where the damage in the brain occurs. It usually causes the muscles to be too tight (spastic) or too loose because the brain signals are constantly being misfired throughout the person's entire life. The misfiring can lead to issues with balancing, coordination, speech, proprioception, body alignment, and even a life long retaining of certain infant reflexes such as the Moro Reflex. The Moro Reflex is the startle reflex in babies and usually disappears when the baby is under 6 months of age but people with CP can have it as children and adults. It is essentially a built in pre programed fear of falling. CP can affect one side of the body (called hemiplegia) or both sides of the body. Every case of Cerebral Palsy is unique and can range from being so mild that it is almost unnoticeable to being so severe that the person uses a wheelchair full time.

          Cerebral Palsy can usually be detached on MRI because the brain lesions in CP look like a stroke but not always. Just a thought. There is also a condition that mimics motor delay in CP but is caused by a lack of a particular protein the brain needs for functioning and is unrelated to CP. The name escapes me. I pray your son does not have a progressive condition.
          Last edited by funnylegs4; 10-04-2019, 09:38 AM.
          Mild Spastic Diplegia Cerebral Palsy and bad proprioception.
          My website for my original short films! http://cripvideoproductions.com/astrokeofendurance.php

          Comment


            #6
            Originally posted by funnylegs4 View Post
            Hi, Welcome to BrainTalk! I have a condition called Cerebral Palsy. Cerebral Palsy and epilepsy often occur together so I'm wondering if your sweet son has a mild form of my disability? My disability is not progressive but I had similar motor delay.



            Here's a description of CP: Only registered and activated users can see links., Click Here To Register...
            Cerebral Palsy (often shortened to "CP") is a brain injury that happens before, during, or shortly after birth. It can be caused by lack of oxygen to the brain or conditions such as a fetal brain hemorrhage, which is similar to a stroke, but in most cases the reason for the brain damage is unknown. Cerebral Palsy affects the motor areas of the brain in a vast amount of ways depending on where the damage in the brain occurs. It usually causes the muscles to be too tight (spastic) or too loose because the brain signals are constantly being misfired throughout the person's entire life. The misfiring can lead to issues with balancing, coordination, speech, proprioception, body alignment, and even a life long retaining of certain infant reflexes such as the Moro Reflex. The Moro Reflex is the startle reflex in babies and usually disappears when the baby is under 6 months of age but people with CP can have it as children and adults. It is essentially a built in pre programed fear of falling. CP can affect one side of the body (called hemiplegia) or both sides of the body. Every case of Cerebral Palsy is unique and can range from being so mild that it is almost unnoticeable to being so severe that the person uses a wheelchair full time.

            Cerebral Palsy can usually be detached on MRI because the brain lesions in CP look like a stroke but not always. Just a thought. There is also a condition that mimics motor delay in CP but is caused by a lack of a particular protein the brain needs for functioning and is unrelated to CP. The name escapes me. I pray your son does not have a progressive condition.
            Thank you for the reply. One of our first concerns was/is CP. Unfortunately our neurologist is pretty dead set against anything we suggest that’s not macrocephaly or genetics related.

            We are anxiously awaiting our 2nd opinion in Nov. No idea what the new neurologist will say but hopefully offer some new insight at the very least.

            Comment


              #7
              Originally posted by funnylegs4 View Post
              Hi, Welcome to BrainTalk! I have a condition called Cerebral Palsy. Cerebral Palsy and epilepsy often occur together so I'm wondering if your sweet son has a mild form of my disability? My disability is not progressive but I had similar motor delay.

              Here's a description of CP: Only registered and activated users can see links., Click Here To Register...
              Cerebral Palsy (often shortened to "CP") is a brain injury that happens before, during, or shortly after birth. It can be caused by lack of oxygen to the brain or conditions such as a fetal brain hemorrhage, which is similar to a stroke, but in most cases the reason for the brain damage is unknown. Cerebral Palsy affects the motor areas of the brain in a vast amount of ways depending on where the damage in the brain occurs. It usually causes the muscles to be too tight (spastic) or too loose because the brain signals are constantly being misfired throughout the person's entire life. The misfiring can lead to issues with balancing, coordination, speech, proprioception, body alignment, and even a life long retaining of certain infant reflexes such as the Moro Reflex. The Moro Reflex is the startle reflex in babies and usually disappears when the baby is under 6 months of age but people with CP can have it as children and adults. It is essentially a built in pre programed fear of falling. CP can affect one side of the body (called hemiplegia) or both sides of the body. Every case of Cerebral Palsy is unique and can range from being so mild that it is almost unnoticeable to being so severe that the person uses a wheelchair full time.

              Cerebral Palsy can usually be detached on MRI because the brain lesions in CP look like a stroke but not always. Just a thought. There is also a condition that mimics motor delay in CP but is caused by a lack of a particular protein the brain needs for functioning and is unrelated to CP. The name escapes me. I pray your son does not have a progressive condition.
              We originally were concerned CP, and will bring it up when we get our second opinion next month. His neuro that he has now seems to be fixated on his macrocephaly for his development delays and balance/walking problems.

              Comment


                #8
                Hello and welcome to braintalk. I'm so sorry you are feeling so lost and dealing with so much. I'm glad you found the support here. I have a daughter who has Down syndrome and several other health issues, the most significant being a incurable brain disease called moyamoya. It caused strokes for her when she was 5. We needed to seek out a large children's hospital(Boston Children's Hospital) to get her the treatment she needed and it was the best thing we did. I think a large hospital like that really knows better how to diagnose and treat young children. They seem to have more compassion and try to work with the whole family. I hope this will be your experience at Cinncinati Children's. I don't have any input on the scans and what they mean for your child but I do know what it's like to feel lost and alone in the journey to diagnosis and treatment. Please keep us posted and I will keep your family in my prayers.
                Mary Grace

                Comment


                  #9
                  Originally posted by Lostparent View Post
                  Thank you for the reply. One of our first concerns was/is CP. Unfortunately our neurologist is pretty dead set against anything we suggest that’s not macrocephaly or genetics related.

                  We are anxiously awaiting our 2nd opinion in Nov. No idea what the new neurologist will say but hopefully offer some new insight at the very least.
                  You’re very welcome! Thanks. I’m sorry the Neuro is so fixated on genetic conditions. A good doctor should be looking at all possibilities. Most people I know with neurologic problems have no genetic conditions but it took longer to diagnose because like your doctor the medical community seems to have an annoying assumption that: Disability = Genetics. I googled Macrocephaly and it looks like Macrocephaly can come in NON genetic forms and yes Cerebral Palsy and Macrocephaly can occur together. Only registered and activated users can see links., Click Here To Register... It might be worth asking at the second opinion if your son’s thalamus is enlarged because the thalamus is involved in a lot of neuro conditions. Keep us updated? Tell us what happens at the appt in Nov?
                  Mild Spastic Diplegia Cerebral Palsy and bad proprioception.
                  My website for my original short films! http://cripvideoproductions.com/astrokeofendurance.php

                  Comment


                    #10
                    With his macrocephaly he's 20.9 inches( 53 cm iirc) head circumference at 17 months, which puts his head size around his 11 year old brothers. No idea if his thalamus is enlarged but I'll check into it. It's very possible his head size is causing problems but in my mind at least there is an equal chance of it being something else and they are too focused on his macrocephaly, especially given his last MRI.

                    Comment


                      #11
                      Originally posted by Lostparent View Post
                      With his macrocephaly he's 20.9 inches( 53 cm iirc) head circumference at 17 months, which puts his head size around his 11 year old brothers. No idea if his thalamus is enlarged but I'll check into it. It's very possible his head size is causing problems but in my mind at least there is an equal chance of it being something else and they are too focused on his macrocephaly, especially given his last MRI.
                      It took awhile to find the name but the other condition I thought your son many have is Dopa responsive dystonia. Dopa responsive dystonia is often mistaken for Cerebral Palsy as you can see in this documentary Only registered and activated users can see links., Click Here To Register... (this documentary called Cerebral Palsy a disease which it is NOT btw) Your son obviously has Macrocephaly because his head seems very large, but he could have Cerebral Palsy or Dopa responsive dystonia in addition to other neurologic issues from the Macrocephaly. Ask about Dopa responsive dystonia. I noticed your MRI said HIE which I googled. Hypoxic ischemic encephalopathy apparently means that your son had reduced blood flow to his brain at some point so I’m sure that factors into his symptoms. Ischemic means lack of blood flow…A friend of mine had an ischemic injury to his thalamus and it effected his sensation, and sense of balance, and proprioception. The thalamus may factor into Cerebral Palsy, Autism and ADHD as well. Your first Neuro sounds really lazy to me. So glad you have a 2nd opinion.
                      Mild Spastic Diplegia Cerebral Palsy and bad proprioception.
                      My website for my original short films! http://cripvideoproductions.com/astrokeofendurance.php

                      Comment


                        #12
                        His ENT ordered a sleep study of all things, which caught me off guard( had his adenoid scraped in August). This was after seeing the seizure event video we had.

                        Comment


                          #13
                          Forgot to post the vid I keep talking about

                          Only registered and activated users can see links., Click Here To Register...

                          This is what we assume is a seizure or seizure like event. Out of all the doctors and therapist we shown this too the only one not concerned is our neurologist.

                          Comment


                            #14
                            Hi Lostparent, and welcome!

                            I'm really out of my depth here as I usually just deal with MS but I do hope you can find some satisfactory answers for your questions. The advice from Rose (Earth Mother 2 Angels) seems very appropriate.

                            If you're concerned about your child's speech, my 18-month-old grandson isn't talking much either, except for "uh-oh." I'm not concerned about it because I remember one of my brothers who didn't say a word until he was 3 years old. Then he came out with a sentence.

                            Apparently he just hadn't had anything to say until then and saw no point in talking until he had something to say. He lived into his 80s and was probably the smartest member of the family.

                            The MRI report for your son mentions "mild" HIE--that word "mild" is worth hanging onto, I think.

                            The video shows a dear little lad, very responsive and smiling. I'll be hoping for the very best for him.
                            SPMS diagnosed 1980. Avonex 2001-2004. Copaxone 2006-2009. Glatopa (glatiramer acetate = Copaxone) since December 2020.

                            Comment


                              #15
                              ((((((Lostparent)))))) ~

                              I apologize for not posting again sooner. Funnylegs4 is giving you excellent guidance. You're in good hands with funnylegs4.

                              I watched the video of your son several times. As you may note in my signature, both of my sons had seizures, a variety of types, and my youngest son, Michael, had intractable seizures for 22 years. So, I have witnessed thousands of seizures in nearly 50 years.

                              Based upon my experience, I think that it is highly likely that your son seized during that video. How he came out of that episode, alert and aware, may tell a lot about the kind of seizure and its foci.

                              Surely, your son has had EEGs. Have they shown any seizure activity?

                              A sleep study is an excellent idea. Seizures are quite often associated with sleep, either from being sleep deprived, or from over sleeping, or upon awakening or trying to fall asleep. It's common. Sleep was definitely a factor in seizure activity for both of my sons.

                              A sleep study may also show whether your son has sleep apnea. How much oxygen is getting to your son's brain, when he sleeps? That's a good question to ask, and a sleep study might determine that. Particularly if a pulse oximeter is used during the study to track respirations, SATS (saturation of O2 in blood) and pulse/heart rate.

                              A pulse oximeter is a very valuable thing to have, and they don't have to cost a fortune. Most pharmacies/drug stores have them, even to use on the finger. You'll want a pediatric pulse ox. Having a pulse ox will allow you to check his SATS and heart rate, if he has another episode like the one in the video. And just to check throughout each day/nite, like while he's sleeping. You can keep a chart of the readings including time of day, what he was doing at the time you took the reading, his condition at the time, etc. That could be helpful information to his physicians.

                              Finally, I just have to say that your little boy is absolutely adorable. He is a precious angel. Beautiful smile. Please give him a kiss from Mama Rose.

                              You and your son and family are in my prayers. Please keep us updated.

                              Love & Light,



                              Rose
                              Mom to Jon, 49, & Michael, 32, born with an undiagnosed progressive neuromuscular disease. Angel Michael received his wings in 2003. Angel Jon received his wings in 2019. In 2020, Jim, their Dad, joined them.

                              Comment

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