Cerebellum

Dr. Doctor,

I have a 22 month old daughter that has a developmental delay.  She cannot walk, but can sit up and crawl.  She also does not talk other than baby sounds.  She is seeing a physical, occupational, and speech therapist.

She has undergone many tests and has seen different specialists.

Ophthalmologist - her left eye cross a little too much so she is wearing a patch for 2 hours a day to strengthen it.  The ophthalmologist also stated that she sees at a 8-9 month old level.

Developmental Pediatrician - My daughter does not have any type of autism and she recommends seeing a metabolic specialist if she is not walking by age 2.

Neurologist - EEG (normal results), chromosome testing (normal), MRI (no abnormalities, but there is too much space between the grooves in cerebellum).

We now have to monitor the cerebellum to determine if the spacing is degenerative.  Is this not considered an abnormality?

Also, she has started to have, for lack of a better word, freak outs.  Out of nowhere, she starts to cry like she's scared, her breathing becomes rapid and she makes hee, hee, hee sounds, and she curls her back while her body stiffens.  What could be causing this?

FYI - we have an appointment to see an ENT and metabolic specialist in the next couple of months.

Thank you for your time.

Jennifer

[Neuro Forum]

Thanks for using the forum. I am happy to address your questions, and my answer will be based on the information you provided here. Please make sure you recognize that this forum is for educational purposes only, and it does not substitute for a formal office visit with your doctor.

Without the ability to examine your daughter and obtain a history, I can not tell you what the exact cause of her symptoms is. However I will try to provide you with some useful information.

There are as you may know several causes to developmental delay. In probably more than half of patients, a cause can not be identified, in which case the presumed cause could be an insult, such as an infection, that occurred in utero. In others, genetic, and as you mention, metabolic disorders are the cause. There are several genetic and metabolic disorders, and several features such as the sequence of her development (was there initial normal development then regression, is she delayed but improving etc) and certain physical features, and laboratory features point to a diagnosis.

It sounds like in addition to the developmental delay, your daughter has vision problems. There are certain disorders that lead to developmental delay associated with optic atrophy (poor development of the nerve to the eye), and this may lead the doctors on a specific diagnostic path. Regarding the cerebellar findings, sometimes time is required in order to ascertain whether the cerebellum is developing normally, so that sometimes, an MRI after a few months would give a better idea. If the cerebellum is not developing properly, this could potentially give a clue to a specific disorder, as some disorders are associated with cerebellar atrophy.

Regarding her episodes, these could just be episodes of irritability, however, discussion of them with your neurologist is recommended, as though unlikely, one possibility is that they are seizures (despite her normal EEG; in order to exclude them being seizures, if there is concern after your doctor hears the full description that they are, an EEG during an actual event would be required, sometimes prolonged EEG monitoring in a unit is needed for this).

It sounds like you are definitely on the right track with your daughter's evaluation. Often, a pediatric neurologist, metabolic specialist, and geneticist all work together in the evaluation. The most important thing is the speech and physical therapy she is receiving.

Thank you for this opportunity to answer your questions, I hope you find the information I have provided useful, good luck.