Presentation
Convulsed on the 4th day of life. The dermatologist noted linear vesiculobullous skin eruptions.
Patient Data
There is diffusion restriction throughout the white matter tracts (posterior limb of the internal capsule, corpus callosum, cerebral peduncles); punctate lesions in the white and grey matter not belonging to vascular territories; cyst-like areas; and foci of microhemorrhages. Most of the small lesions are visible only on DWI/ADC, whereas larger areas have a hyperintense signal on T2WI and a hypointense signal on T1WI. Some small foci in the cortex and internal capsule have a hyperintense signal on T1WI, probably due to necrosis (similar to proteinous content in laminar necrosis). Microhemorrhages are located mainly in the frontoparietal regions and in the corpus callosum. The cerebellum is intact.
Case Discussion
The DWI abnormalities, including punctate lesions and larger areas spread throughout the white matter, are associated with changes in the corpus callosum. Additionally there were DWI changes in the cerebral peduncles and posterior limb of the internal capsule (suggesting "pre-Wallerian degeneration"). SWI changes were not as widespread as DWI changes but overlapped, suggesting hemorrhage in some of the regions with restricted diffusion.
Incontinentia pigmenti, also known by several other names, including Bloch-Sulzberger syndrome, is a rare X-linked ectodermal dysplasia affecting the skin and CNS, as well as hair, teeth, and small blood vessels.
Verification was performed by molecular genetic analysis, there is deletion in the IKBKG gene.
This case is presented together with my colleagues Anikin A. and Gankin D.
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