Monday, October 27, 2008

Matthew at Bishops Pumpkin Farm age 17 months.  He has started walking a little.

Tuesday, October 21, 2008

Pictures of Matthew's MRI

You can go to the following link to view all of the MRI slides.

Matthew walking

Here is a QuickTime video of Matthew trying to walk. I took this with my phone, so not the best quality.  Matthew is about 16 months old and has Rhombencephalosynapsis.


Another slide showing fused cerebellum

I will post several pictures of his MRI.

From what our neurologist told us, it is clear that the cerebellum has no hemispheres, and apparently his ventricles are quite dilated. However, he does not think that hydrocephalus is the cause. He feels that the ducts are open and should be draining.


Matthew was born on April 25 2007.

Matthew is behind in walking (ataxia), talking and physical size. He can stand up on his own and start to walk, but stumbles along the way. I have seen him walk approximately 15 feet without falling. When he crawls he constantly shakes his head back and forth. He does the same when he is walking (even if he is holding on to something) and he seems to shake his head when he is tired. With the exception of his walking, physically he is not that far behind. He is very efficient at crawling and in his toddler gymnastics he is ahead of the class. He goes up and down stairs with ease, he has figured out ways to crawl up to the kitchen counters (we have to keep chairs and stools away from the bar tops and lock all the drawers) and he can climb up a high bed by stepping on the frame and get down by himself. He scares us because he seems to have no fear.
Cognitively he seems okay, actually he seems to have very good problem solving skills, he is determined is his tasks. For example he has on occasion unbuckled his car seat and he is starting to manipulate the child locks on the cabinets (you can see him look at the locks and he realizes they are stopping the doors so he tries to tear them off). In playing with toys, watching videos, and playing games he has a very short attention span. He will look at something for a few moments and then move on. The one exception to this seems to be cords or ropes. He likes to play with phone cords and jump ropes.
His speech is behind, however, he will copy tones, tunes and syllables. For example, if you hum a short tune, his mimic is surprisingly accurate. If you tell him to say a three syllable word he will produce a sound that is three syllables.


Rhombencephalosynapsis is a rare congenital abnormality characterised by dorsal fusion of the cerebellar hemispheres, agenesis or hypogenesis of the vermis, fusion of dentate nuclei and superior cerebellar peduncles (Toelle et al., 2002). In this sense, it may be viewed as a condition with failure to form the midline structures of the cerebellum, akin to holoprosencephaly, which affects primarily the cerebral cortex. There are often associated cerebral cortical malformations, such as corpus callosum hypoplasia or cortical dysplasia (Mendonca et al., 2004), but major features of holoprosencephaly are not typically associated. Clinical findings range from mild truncal ataxia and normal cognitive abilities to severe cerebral palsy and mental retardation. This broad spectrum may be a result of the frequent association with hydrocephalus.