Friday, May 6, 2016
NCL (Neuronal Ceroid Lipofuscinosis) which would show an accumulation of lipofuscin in the skin. We did discuss Mira's poor vision, along with the heterozygous mutation of TPP1 which they found in a genetic screen, and how both of these might point to the possibility that she has NCL, which is why her neuro suggested the biopsy in the first place. After describing her vision issues, he basically said it was highly unlikely that her poor vision is related to NCL, since they didn't see anything abnormal during her ophthalmology appointment earlier this year - no storage or pigment issues with her vision or retinas, which is a hallmark sign of the disease. Nonetheless, he encouraged us to go ahead with the biopsy, since he has a current patient who does have a heterozygous mutation only, that did test positive for NCL. Anything is possible and the absence of retinal deterioration does not completely rule out NCL. I'm still on the fence about it, since while the biopsy is an outpatient procedure, it still is invasive in that requires an incision and stitches. I have always found our neurologist as very insightful and I trust his judgement.