Figure 3.

Figure 3.

Brain and spinal cord MRI in two individuals with ECCL

Images from one affected individual (A–C) demonstrate hydrocephalus (A), moderate cerebellar vermis hypoplasia with large fluid collections or cysts behind and below the vermis (white asterisk in A), and a massive midline lipoma extending from several centimeters above the cerebellum, around the cerebellum and brain stem and down into the spinal cord (black asterisks in A, B, and C). Adjacent structures such as the thalamus and hypothalamus are deviated upwards and outwards by the lipoma.

Images from another affected individual (D–F) show a large lipoma of the corpus callosum containing a large dysplastic vessel in the middle (black arrow in E) and deficiency of the anterior falx (D and F). The latter is suggested by close apposition and inappropriate interdigitation of the mesial frontal gyri at lower levels (offset white arrows in D) compared to higher levels (linear white arrows in F).

Adapted with permission from Moog et al [2007a]

From: Encephalocraniocutaneous Lipomatosis

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