Recent Genetics Clinic Note

A lot has happened in the last week. I received a large packet of medical records on Logen to take to St Louis. I have several things to post- But, I'll start here-

Dear Dr F,
I had the opportunity to see your patient, Logen, in the genetics clinic here at ___. As you may be aware, Logen has a very complicated medical history. He has been seen by mulitple specialists including Neurologists and a neurogentic work up has been initiated. To date, he has had prometaphase choromosome studies, advanced micro-array studies, and chromosome 15 methylation studies. All of these were normal. In brief, then, there is currently no unifying diagnosis for Logen's constellation of problems.

In reviewing his case with his parents then, the major problem list at this point in time include:
1) Significant neurodevelopmental delays (particularly in speech production)
2) Asymmetric spasticity
3) Seizure disorder
4) Lipoblastoma of the thigh
5) Craniofacial Dysmorphisms (on my examination today, I felt he had distinct flattening of the midface, prominent epicanthal folds, and an upturned nose. Below the neck he had no striking congenital anomalies that I could detect.)

I discussed with his parents that he has a very good and thoughtful first round evaluation. A second-tier would be indicated. They were agreeable to this. Given the constellation of spasticity and seizures, I did do MECP2 gene testing and ARX gene testing as well. Also, given the lipomatous tumor on his thigh, I also did PTEN gene testing.

We will follow up with the family once these results are available. ..... I did also briefly broach the possibilty of a third tier of evaluations for their consideration. This would include a work up targeted more towards mitochondrial/metabolic disorders.


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We found out on Monday that the tests above were *normal*. These were the ones we waited over 7 weeks on. He has an appointment to see an Endocrinologist and the Geneticist in early April. We will do the 3rd tier testing at that appointment. And, I'm sure it'll take another 2 months or longer to get those results back.

His Neuro has ordered a spinal tap. There is something (I can't remember- I wrote it down, somewhere!) in the CSF that can cause some of his 'problems'. The only way to know is through a spinal tap (which scares me....)

This week has been off. He's had seizures and his behavior has been very aggressive- he's not listening, behaving, etc. I spoke with a nurse from St Louis every day last week- thats why I just love them . They called ME to check on him. They are working on getting him in to see an Epilepsy Doc asap and the neuro in the same day. (B/c of our travel) Our dr has a 6-8 month wait list, so this isn't easy!