Cerebellar vermis atrophy

[jpetty3]

My daughter is 4 years old and is developmentally delayed. We have no diagnosis beyond low muscle tone. Her last MRI came back abnormal and showed atrophy of the cerebellar vermis "markedly increased" since her prior MRI. I know what symptoms that would cause. We have tested for all the most common forms of ataxia (freidrich's, sca, and so forth). All of these have come back negative. What other possible disorders would cause this atrophy?

[Dorotap]

I have a son who's 4 years old and has a Joubert Syndrome. He is developmentally delayed and has an underdeveloped vermis. If you would like to talk to me please write first at ***@****
Dorota

[Dr. A. Srivastava]

Hi, Thank you very much for your question; although it is quite hard for me to give you a precise opinion here without being able to examine your child and her reports, but I would try to provide you some relevant information about your health concern.

This sort of atrophy could be inherited congenital atrophy of cerebellum. This can occur as recessive genetic disorder or even dominant in nature. Few names of conditions which can cause such atrophy are Joubert syndrome, Spinocerebellar ataxia, Coloboma chorioretinal cerebellar vermis aplasia and Coach syndrome ( associated liver fibrosis) etc. These conditions may cause cerebellar atrophy which may largely manifest as ataxia, uncoordinated eye movements, mental retardation etc. Hope this information proves helpful.