Incontinentia pigmenti (Bloch-Sulzberger syndrome)

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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