CAH AND BRAIN ANOMOLIES
Jul. 5th, 2002   5:47pm

Here is a question that I have sent to many people, but, I thought I would post it here, given the resources available to EVERYONE, maybe I could get an answer. I have sent it to Dr. Songya Pang, who we will see later on this month at the MAGIC Convention.

My son has both CAH, Type III (salt wasting) and agenesis of the corpus callosum. The only other case of both of these occurring together, is of a woman that took dexamethasone during pregnancy; I did not. So, there is no research to go by. He also has abnormal gyral formation, colpocephalic configuration of the lateral ventricles with marked dilation of the occipital horns and small frontal horns. There is also thinning of the periventricular white matter (moderately severe periventricular white matter absence). In researching the interrelatedness of these conditions, I came across "Neural Bases of Speech, Hearing, and Language" by David P. Kuehn, Margaret L. Lemme and John M. Baumgartner. In this book, the neuronal impulses affecting the CNS link both potassium and sodium to the neuronal transmitter. Looking further, I found in "Mind and Brain", p. 28 the following:

Nerve Impulses and Synaptic Transmission As seen here, the basic mechanism of a nerve impulse is the inflow of sodium ions and the outflow of potassium ions through the nodes of Ranvier, in such a way as to render the electrical potential, or polarity, of the axon membrane slightly positive relative to the outside. Molecular ion pumps quickly restore the negative resting potential by pumping sodium back out and potassium back in, but already a similar change has occurred in the next node. When the impulse reaches an axon terminal, neurotransmitters are released that excite the target neuron to fire or prevent it from generating its own nerve impulse."

Therefore, can CAH affect brain function in a negative or positive way, as to increase learning potential or decrease neuronal functioning? In other words, what interplay, if any, can there be between these two disorders. If you have no answer, can you give me the name of someone who may (possibly a neuroendocrinologist with behavior studies?) I am hoping to get the school to better understand the interaction, if any, between these disorders, or if treatment for the CAH with Cortef and Florinef, can assist in the development of infants diagnosed pre-or postnatally with ACC. It seems like my son is mildly affected by both disorders, yet is achieving above age level testing results (walking, talking in 20 word sentences, running, jumping), that many of the ACC children do not. His verbal reasoning, he is at 5 years, 11 months, yet comprehension only at 3 years, 5 months (at 3 years of age). He tests higher expressively than receptively, which is also reversed from the typical ACC population.

Thank you for your consideration on this topic. I will be attending the MAGIC Convention again this year, and look forward to speaking with you. However, I do not anticipate that you will answer me at this time or in that place.

Jennifer
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