The Verdict Is In...well not really.

Quite sometime ago, we sent an entire package of information to a renowned doctor in Chicago for his "take", aka professional opinion, regarding Jackson's brain scans. This particular doctor comes (obviously) very highly recommended and, if no "donation" is made to his research laboratory, can take 6-9 months to review a child's file. (In our case it took nearly that long anyway, regardless of the donation.) So when the email arrived in our in box we were anxious to see what the good doctor had to say. This is the email he sent:


Re: Jackson Bender
DB#: LR09-329
DOB: 9/19/2005

Jason and Lauren --

I reviewed notes and brain scans on your son Jackson recently. His history is most notable for language delay, aspiration and later GE reflux. He has had some developmental catch-up, but remains behind. I presume that this includes continued language delay. His brain scan shows a single nodule of nerve cells next to his left lateral ventricle. These are known as a “periventricular nodular heterotopia” (PNH) and may occur as single nodules usually with no other anomalies, or in groups of nodules when they may be a marker of a developmental syndrome. His scan also shows marked underdevelopment of his cerebellum, affecting the midline cerebellar vermis more than the R and L sides or hemispheres, and the R hemisphere more severely than the L hemispere. I will designate this cerebellar vermis hypoplasia (CBVH). Neither of his two scans allow a good look at his temporal lobes – particularly the hippocampus.

He could have a syndrome consisting of CBVH, PNH and underdevelopment of the hippocampus first reported a few years ago (Parrini et al 2006 in BRAIN). But this condition is usually associated with several PNH as well as a malformed hippocampus. I can’t see his hippocampus – no good images in this area. So this is a possible diagnosis, but I’m not certain about it. The senior author of that paper (Guerrini) has a trainee reviewing a larger series of patients, but I don’t have the data from this yet. No recurrence has been seen in families, but the number of individuals with this condition is still small.

As an alternative, both single or a few PNH and small cerebellum – especially when asymmetric – have been associated with prenatal ischemia (lack of oxygen or blood supply to the fetus, ie a placental problem) per a few references (Battaglia et al 2009 in Epilepsia for PNH; Boltshauser et al 1996 in Neuropediatrics for cerebellar hypoplasia). So this is possible, even with a normal pregnancy history. If this is the cause, it would of course be NOT genetic.

I don’t have enough information to say much about outcome. He is at some increased risk for seizures because of the PNH, and for a range of developmental problems with coordination and behevior due to the cerebellar problem. Neither of the possible diagnosis I’ve listed above by itself tells me what his ultimate developmental outcome will be.

The only new test that I would order is a new chromosome microarray. He had one done in early 2007, but this used technology now several generations out-of-date. If you are interested in research, I would need blood samples from Jackson and you two as I expect we will eventually find some further PNH genes. Please email my coordinator, Mary King about this.

REVIEW. MRI x2 at 7mo and 2y11mo (4/27/2006, 8/14/2008) on CD show normal head contour, extra-axial spaces, gyral pattern and cortex, single periventricular nodular heterotopion (PNH) adjacent to lateral border of the L trigone (watershed area), normal hippocampus, basal ganglia and thalamus, mildly reduced volume white matter, posteriorly, normal 3rd and mildly enlarged and dysplastic lateral ventricles, normal corpus callosum, brainstem, mildly enlarged 4th ventricle, mild cerebellar vermis hypoplasia involving inferior-posterior vermis (uvula and pyramis lobules), L>R cerebellar hemisphere hypoplasia, and normal to small posterior fossa size. wbd

WBD



Now that clears it all up, doesn't it? ARGGGGH.