Daniel still does not crawl or walk however, he is quite mobile. He sort of scoots on his butt to wherever he wants to go. While he still doesn't say many words he does know plenty of signs and is learning more of those every day. He is the same happy wonderfully sweet little boy that he has always been. He is becoming a typical 2 year old in some ways which is good and some not so good (for his mother and father). For instance he will not necessarily listen when you say "no" and he does not like to wait for something when he wants it, he wants it now! He also has a tendency to explore everything :-).
We love him dearly and we are so happy that he is in our life and in our family.
Now, onto the doctors summary:
Lara --
The medical records (and video) of Daniel indicate significant developmental problems, and the video shows poorly coordinated movements and stereotyped postures and movements. His face appears mildly flat with prominent cheeks also. The only head size measurement I found in the records was at the 25% when he was younger; more head size measurements would be useful.
His medical records do mention “mild” lissencephaly as you indicated. On my review, his brain scan shows mildly increased fluid over the front, which makes the convolutions appear a bit unusual. But he probably has a normal number of convolutions, so he does not have any type of lissencephaly. This diagnosis was way off base, and I doubt that any of his current physicians will argue with me about this.
His cerebellum, primarily the middle portion known as the “vermis”, is mildly small. While mild, this is definitely abnormal. It very likely accounts for his poor coordination, and partly accounts for his other unusual positions and movements. The reason he is not talking or chewing is less clear. I designate this as “cerebellar vermis hypoplasia” (CVH). An older but very confusing term is the “Dandy-Walker variant”. While concerning of course, had he had almost any type of (true) lissencephaly, he would have been worse.
CVH is a relatively common developmental problem, and occurs by itself and as part of many different syndromes. It probably has many different genetic causes, and the developmental outcome varies across a wide spectrum very nearly normal to severely handicapped. The video shows significant abnormalities in his verbal and motor skills, so is likely to continue having developmental problems when older. Some causes of CVH come out of the blue (only one in the family) while others can affect siblings. I’m not sure for your family.
He should have a good “chromosome microarray” test done. And genetic testing of the “OPHN1” gene, which can be done in our clinical lab in Chicago. His neurology and genetics docs in VA are welcome to email for other ideas. We could include him in our CVH research studies as well. You might try to email me the video, as it was helpful. I think he should probably see a geneticist in VA as well to work on diagnosis further, and I know good ones in Norfolk, Richmond and the DC area. And please track down his head growth curve.
REVIEW. MRI 5/23/2007 at 9 mo on CD shows normal extraaxial space, borderline mild frontal simplified gyral pattern (reduced number of convolutions) but o/w normal gyral pattern, cortex, hippocampus, basal ganglia, thalamus, white matter, 3rd and lateral ventricles and corpus callosum, persistent cavum septi pellucidi et vergae (minor variant), normal brainstem and cerebellar hemispheres, mild but definite cerebellar vermis hypoplasia involving all lobes, and normal posterior fossa size. wbd
Testing included normal transferrin isoforms fjor CDG and, 15q11 methylation studies.
WBDobyns
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