18 month old ataxia, tremor etc.

[acbuchan]

HI, I have an 18 mnth old, diagnosed so far with ataxia, they are thinking it may be C.Palsy. However he also has many other things that are not consistant with CP. He had a side to side head tremor that happens in bouts and is quite rapid, somtimes like a shiver, like a tremor and other times like a definate exact movement side to side, a little slower than a shiver, like he is shaking his head "no" but he is not in control of it at all. He also gets an eye "thing", he blinks a few times and then shuts and scrunches his eyes closed then blinks and scrunches again. Both done multiple times per day. He has no obvious dysmorphic facial features, a slight long philtrum, a slightly broad nasal bridge and tip, high forehead, his ribs flare at the base and he appears to have a deep chest at the top near his breast area.Started toe walking, he falls alot, has good muscle tone,he does have very muscular thighs though, and very thin arms,and his area above the shoulders(near the neck) is quite muscular, the bit that always looks huge on body builders. He is a very placid child, but is quite agressive also. He cannot chew at all, only sucks food, and gags frequently, he is on the 95th percentile for height and weight and has been since birth, head 50th percentile. Any ideas? He has the specialist over here stumped. Or do you know what the eye blinking things might be or what the head side to side thing might be? He is mentally fine as far as we can tell. He has a few autism like mannerisms (I have two autistic boys 3&5 yrs), I am 99% pos. that he is not autistic. Thanks for any help.

[CCF-Neuro-M.D.-JT]

Your son's case is complex as I'm sure you and your docs know.  The gagging/swallowing problem is probably one of the most worrisome abnormalities that you've reported in your post as this can lead to aspiration (when things like food and saliva go down the windpipe instead of the esophagus).  Have they done formal swallowing tests and evaluated him with speech therapy?  An MRI of the brain/C-spine with attention to the brain stem and junction between the brainstem and spine would also be important as an abnormality there could produce those symptoms.  As for the movements (head and eyes), they could represent a number of things including stereotypies (benign behavioral movements like twirling your hair or tapping your foot that don't necessarily mean anything but in some cases can be associated with autistic behavior), tics, seizures (especially with the eye blinking), or other movement disorders.  An EEG may be helpful in ruling out seizures. If you've "stumped" your local doc, you may need to consider bringing your son to a pediatric neurologist at a major academic center for further evaluation.  Outside of imaging studies, further testing may include genetic/chromosome tests, blood and urine studies looking for metabolic abnormalities, etc... In the meantime, be careful as to keep your child sitting straight up while eating and talk to your doctor about possibly keeping his head up just a little while sleeping to prevent aspiration. Best of luck.

[Anjum786]

A related discussion, Tremor/jerking in 8year old was started.