Table 1.
MRI findings.
| Patient number | Patient 1.1 | Patient 1.2 | Patient 2 | Patient 3.1 | Patient 3.2 |
|---|---|---|---|---|---|
| Year of birth | 1995 | 1993 | 1994 | 1989 | 1994 |
| MRIs (ages in years) | 2 (9, 10, 12) | 1 (8) | 4 (3, 11, 12, 17, 20) | 2 (11, 20) | 1 (4) |
| First MRI | |||||
| Cerebral WM abn.a, aspect | Inhomogeneous, partially multifocal | Multifocal | Inhomogeneous, partially multifocal | Inhomogeneous, partially multifocal | Inhomogeneous, partially multifocal |
| Predominance cerebral WM abn. | Deep + subcortical | Deep | Deep + subcortical | Deep + subcortical | Deep + subcortical |
| Sparing cerebral WM | Periventricular | Periventricular + subcortical | Periventricular | Periventricular | Periventricular |
| Corpus callosum genu abn. | +, esp. middle blade | +, middle blade | +, esp. middle blade | +, esp. middle blade | +, esp. middle blade |
| Corpus callosum body abn. | − | − | − | − | − |
| Corpus callosum splenium abn. | + | +, middle blade | + | − | + |
| Internal/external capsule abn. | −/− | −/− | −/− | −/− | −/− |
| Swelling of abn. WM | − | − | − | − | − |
| Rarefaction of abn. WMb | − | − | + | − | − |
| WM cystsc | − | − | − | − | − |
| Cerebral cortex signal abn. | − | − | − | − | − |
| Basal nuclei signal abn. | − | − | − | − | − |
| Thalamus signal abn. | − | − | − | − | − |
| Cerebral atrophy | Slight | − | − | Slight | − |
| Cerebellar WM signal abn. | − | − | + | − | − |
| Hilus dentate nucleus abn. | − | − | − | − | − |
| Cerebellar cortex signal abn. | − | − | − | − | − |
| Dentate nucleus signal abn. | − | − | − | − | − |
| Cerebellar atrophy | − | − | − | − | − |
| Middle cerebellar peduncles abn. | − | + | + | − | − |
| Brainstem signal abn. | − | − | +, central tegmental tracts | − | − |
| Brain stem atrophy | − | − | − | − | − |
| Contrast enhancement | − | n.d. | n.d. | n.d. | n.d. |
| Restricted diffusiond | n.d. | n.d. | n.d. | n.d. | n.d. |
| Elevated lactate in MRS | − | n.d. | n.d. | n.d. | n.d. |
| Latest MRI | |||||
| Change over time | Slight further cerebral atrophy | Cerebral and cerebellar atrophy; no diffusion restriction; no contrast enhancement | Cerebral and cerebellar atrophy, cerebellar WM abn., no diffusion restriction | − | |
aSignal abnormalities defined as an abnormally high signal on T2-weighted images.
bWhite matter rarefaction defined as T2-hyperintense WM with low signal on FLAIR, but not as low as cerebrospinal fluid.
cCysts defined as T2-hyperintense WM with low signal on FLAIR, as low as cerebrospinal fluid.
dRestricted diffusion assessed using the apparent diffusion coefficient (ADC) to avoid T2-shine-through effects.
WM, white matter; abn., abnormalities/abnormal; MRS, magnetic resonance spectroscopy; n.d., not done; esp., especially; +, present; −, absent; FLAIR, fluid-attenuated inversion recovery.