Gene Testing

Enzyme testing
revealed no activity of tripeptidyl peptidase (TPP1)

Molecular analysis

identified the CLN2 mutation
homozygous c
523-1 G>C
g. 3556 G>C
with homozygous polymorphism g.3767 T>C

MRI Images

Click the links below to view MRI images:

Images from 2223, Nicholas’ MRI
Images from 2224, Nicholas’ MRI
Images from 2225, Nicholas’ MRI
Images from 2226, Nicholas’ MRI
Images from 2227, Nicholas’ MRI

The following are skin biopsies done at Children’s hospital, Boston MA on Sept 18, 2008

The last 2 are retina images and were taken on September 17, 2008 at Children’s Hospital Boston.