PMC3385169_01
Photograph of a child showing freckles, cachexia, sunken eyes and sparse hair
IJHG-18-125-g001.jpg
PMC3385169_01_IJHG-18-125-g001.jpg
F1
There was generalized wasting, hair was sparse, brittle, coarse, and light colored, and angular stomatitis was present [Figure 1].
MRI showing enlargement of 4th ventricle and atrophy of vermis
IJHG-18-125-g002.jpg
PMC3385169_01_IJHG-18-125-g002.jpg
F2
Magnetic resonance imaging: diffuse enlargement of all the ventricles, especially the 4th [Figure 2]; cerebellum was atrophic, especially the vermis; hyperintensity seen in centrum semiovale bilaterally in T2 weighted images, suggestive of white matter degeneration.