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. Author manuscript; available in PMC: 2014 Oct 16.
Published in final edited form as: Neuron. 2013 Oct 16;80(2):10.1016/j.neuron.2013.08.013. doi: 10.1016/j.neuron.2013.08.013

Figure 2. MRI images from family C.

Figure 2

Sibling C.II.1 (A–D): Sagittal T1W image (A) performed at 13 days of age reveals decreased size of pons. Axial T2W image (B) reveals prominent pericerebral fluid spaces surrounding the brain due to volume loss. White matter is diffusely higher in signal intensity than the cortical ribbon, suggesting delayed myelination. Axial T1W image (C) confirms lack of bright myelin stripe in the posterior limb of internal capsule (arrow). Three-D CT (D) at two months of age confirms ridge (arrow) from overlapping sutures, palpable at birth. DNA confirmation was not obtained in this infant.

Sibling C.II.3 (E–H): Sagittal T2W image (E) performed at six days of age reveals decreased size of pons. Axial T2W image (F) demonstrates prominent pericerebral fluid spaces surrounding the brain due to volume loss. Axial T1W image (G) confirms lack of myelin stripe in posterior limb of the internal capsule (PLIC). Magnetic resonance spectroscopy (MRS) TE144 (H) performed in the basal ganglia is age appropriate (as it was in all 3 siblings).

Sibling C.II.4 (I–L): Sagittal T2W image (I) performed at one day of age reveals decreased size of pons. Axial T2W image (J) confirms pericerebral fluid prominence due to cerebral volume loss in a manner similar to siblings. Axial T1W image (K) shows lack of myelin stripe in PLIC. Diffusion weighted imaging (DWI) (L) is normal (as it was in all 3 siblings).

See also Figure S1.