We had an appointment with Dr. Chugani today. Or as my friend, Danielle, calls him, Dr. Rockstar. This was our follow-up appointment after Emma’s MRI and PET scan.
The MRI showed that Emma’s white matter in her brain is not as mature as a normal 2-year old child. She doesn’t seem to have any obvious defects of her brain.
The EEG that was done with the PET scan showed the hypsarrhythmia pattern during the time that she was sleeping. Other than that, there were no seizures.
The PET scan didn’t show a focal point. Her entire brain didn’t process the radioactive glucose correctly. Because of this, she isn’t a surgical candidate.
Dr. Chugani didn’t have a whole lot to say today. Emma’s obviously not a surgical candidate because of the PET scan. Because Emma’s not having any seizures, he wouldn’t mess around with her medication at the moment. He didn’t think there was really any genetic testing that we’d be able to do. So, right now, we’re just waiting and treating the seizures. He has a sample of Emma’s DNA, that will eventually be sent off to do a bunch of genetic testing on it. If they find anything, they will let us know. But we don’t know when that will be done. Maybe next week….maybe next year.
Here is what the actual reports say…
MRI of the brain without contrast
There is evidence of diffusely increased T2 signal throughout the deep white matter bilaterally, most evident within the right parietal and both temporal lobes. The degree of increased T2 signal is out of proportion for the expected amount of myelination at this age.
There is no evidence of focal mass, mass effect, hydrocephalus, or extraaxial fluid collection. There is no brain herniation seen.
No obvious cortical dysplasia or neuronal migration anomaly is identified. The abnormal T2 signal is best seen on image 12 of series 2.
The corpus callosum is also of diminutive size.
Ventricular size and overall brain volume, however, is within normal limits. The globes and both optic nerve sheath compleses appear symmetric.
1. Diffusely increased T2 signal within the deep white matter as described which is bilateral. Possibilities could include various causes of delayed myelination or dysmyalination. An underlying metabolic disorder is also not completely excluded. Clinical correlation is recommended, a short-term followup in 6 months is also recommended to further evaluate.
2. There is no evidence of acute ischemia on the diffusion-weighted images.
EEG (done with the PET)
The patient was awake and asleep during the recordings. The background activity during awake was disorganized and consisted of a mixture of delta and and theta activity ranging from 2 to 4 Hz. During sleep, hypsarrhythmia pattern was noted and no well formed sleep architecture was noted on either side. Very frequent multi-focal interictal epileptiform discharge was seen in the left and right anterior as well as posterior quadrant which was slightly dominant in the left hemisphere. No ongoing seizures were captured.
This was an abnormal EEG recording. Disorganized background activity with hypsarrhythmia pattern during sleep and absence of well formed sleep architecture suggested diffuse neuronal dysfunction. The presence of very frequent interictal epileptiform discharge in the left and right anterior as well as posterior quadrant suggested increased risk of epileptic seizure with multi-focal onset.
The EEG performed during the PET scan showed background slowing with hypsarrhythmia in some of the sleep EEG segents. There were also very frequent multifocal spike and wave activity from the left and right hemisphere, perhaps more dominant on the left side.
The PET scan showed severe hypometabolism of the parietal, temporal cortex bilaterally, more pronounced onthe right side. There is a milder hypometabolism of the frntal cortex bilaterally. The occipital cortex appears to be also less affected but is nevertheless hypometabolic. The basal ganglia appear very prominent because of the surounding hypometabolism. The thalamus, brainstem, and cerebellum appear normal. The medial temporal lobe structures appear symmetric.
This is an abnormal cerebral glucose metabolism study showing bilateral hypometabolism affecting virtually the entire cerebral cortex but most pronounced in the parietal and temporal cortex on the right side. This finding is most consistent with an underlying genetic or metabolic condition. We suggest further testing in this regard. Based on this scan, it is unlikely that this child would be a surgical candidate.