Discussions By Condition: I cannot get a diagnosis.

Any advice please?..

Posted In: I cannot get a diagnosis. 3 Replies
  • Posted By: coronat
  • January 19, 2009
  • 10:28 PM

Im new to the forum and guess this may not be the place for my question but I really would appreciate any information or guidance if possible.

I have an eight year old daughter born with a coloboma (Inferonasal coloboma as far as I know, no definative diagnosis as yet) she developed normally till the age of about 2 years old when she suffered a head injury (a cupboard door fell off its rails onto her) She had a Cat scan at the time and there appeared to be no injuries present other than a concussion.
She is now almost seven years old and appears to have the development level of a four year old in terms of numeracy, literacy as well as general behaviour.
We are currently undergoing a multitude of tests and the latest of which was an MRI which was done to assess any possible neurological deficiencies related to the coloboma one of the doctors post MRI, inadvertantly mentioned that although the brain appeared anatomically correct the left hemisphere appeared underdeveloped (no further elaboration given as I assume she relaised that any diagnosis or explanation should be handled by the referring consultant)
Needless to say I am very worried and I have been browsing to try to find some sort of information related to "underdeveloped left hemisphere" and the closest symptomatically speaking I can find is Brocas Aphasia, however there appears to be little reference to this being caused by trauma as well as the aforementioned Cat scan results after the head trauma which confuse me somewhat, I would infer that and aphasia caused by trauma would be detected by a CAT scan after the event and would probably be discernable on the recent MRI?

does anyone have any idea of what physiological /developmental diagnosis the above could possibly relate to, I know there is not enough information for any definative answer but I just want to get a bit more information so I can ask the right questions when we see my daughters consultant in a couple of months time.

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3 Replies:

  • Okay, the presence of cognitive developmental disorders in patients with a coloboma is well-documented and I would submit here that the accident with the cupboard shelf would not be a causal factor. Many infants born with a coloboma also suffer from a variety of other conditions such as heart defects, choanae atrisia and other growth or developmental abnormalities. As she grows, further testing can be performed to discern more precisely the level of developmental problems, a task that for the time being would be somewhat difficult to assess to the fullest extent at such a young age. Best regards, J Cottle, MD
    JCottleMD 580 Replies
    • January 20, 2009
    • 00:22 AM
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  • Thanks for the quick response, I know I shouldnt be but I am slightly relieved that your opinion is that the accident would not have contributed to her developmental status. (usual parental guilt I guess) I have done the usual "web search" and am aware of CHARGE ,she does not seem to exhibit any of the common characteristics other than an elevated heart rate with minimal excercise which I assume will be assesed when she has the cardiac sonar (?) in the near future. We are having genetic tests performed tomorrow and the final cardiac assesment thereafter, I guess once all the tests have been completed and reported on we should have a better idea of her situation after we see her consultant. thanks again for your input.
    coronat 2 Replies
    • January 22, 2009
    • 08:23 PM
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  • Sorry, just a thought, you mentioned that it would be difficult to determine the extent of my daughters condition at such a young age. I am interested to find out at what age you would consider a proper diagnosis could be done.
    coronat 2 Replies
    • January 22, 2009
    • 11:34 PM
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