Presentation
Fever with seizures
Patient Data
This is the MRI of sibling 1, aged 3 years.
Edema, hyperintensities, and areas of diffusion restriction are observed in the bilateral cerebellar hemispheres, external capsules, thalami, optic tracts, brainstem, optic chiasm, and corpus callosum, with foci of hemorrhage in the bilateral thalami and brainstem. A possible hemorrhage is seen in the bilateral mammillary bodies.
A small focus of diffusion restriction is also observed in the right parasagittal frontal lobe.
The post-contrast study shows subtle peripheral enhancement in the bilateral thalami, midbrain, and pons.
Compression of the fourth ventricle is observed with dilatation of the third and bilateral lateral ventricles, along with periventricular seepage.
Hyperintense signals are also observed in the visualized bilateral orbits, with a possible bilateral retinal detachment.
This is the MRI of the above patient's sibling, aged 1 year.
Multifocal areas of restricted diffusion on DWI/ADC involve the bilateral frontal and left parietal cortex, as well as the bilateral thalami and corpus callosum.
Diffuse T2/FLAIR hyperintensity is observed, involving the bilateral periventricular and deep white matter, including the external capsules.
Possible tiny foci of hemorrhage are observed in the bilateral mamillary bodies, medial temporal lobes, and bilateral thalami.
This MRI is the follow-up imaging of sibling 2, now aged 1.5 years.
It shows,
interval involvement of brainstem
newer lesions in bilateral thalami and corpus callosum
significant increase in involvement of bilateral cerebral white matter
Case Discussion
These are MRI scans of two siblings, with a follow-up MRI of the second sibling. Both show similar findings consistent with acute necrotizing encephalopathy.
The first sibling succumbed to the illness. The genetic workup of the second sibling was positive for the RANBP2 genetic mutation. These two patients also had an older sibling who reportedly succumbed to a similar illness in the past, suggesting a recurrent familial pattern.
The RANBP2 mutation is associated with autosomal dominant acute necrotizing encephalopathy, which is likely in this case.
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