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This is an MRI of the brain and face in a one

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month old with an asymmetric growth on the

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left side of the face, left cheek region.

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It was thought to be a mass, but if you

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look at it, on this T2-weighted image, it's

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relatively homogeneously hyperintense.

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It's hyperintense on T1-weighted

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imaging, suppresses on fat-suppressed

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T1-weighted imaging, and There's no

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suspicious enhancement within it.

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So this looks at first like a

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lipoma, which is a benign entity.

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Obviously, there may be cosmetic

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implications, but it's a benign entity.

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There was more to it than that.

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If I go back to the T2-aided image, if

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I look at the cerebral hemispheres, The

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right cerebral hemisphere protrudes

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a little bit over to the left of midline.

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So if you actually measure it,

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the right cerebral hemisphere is

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a little bit larger than the left.

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The right cerebral hemisphere, look at the

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T2-weighted image of the white matter, it's

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a little bit more hypointense than the left.

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And Additionally, it's a little bit more

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hyperintense on T1-weighted imaging than

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the left cerebral hemisphere white matter.

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And it's noted that in a one-month-old,

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this T2 hyperintense, T1 hyperintense

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appearance of the white matter is normal.

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So while anytime you see an asymmetry, it's hard

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to know what's abnormal, the left hemisphere

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seems to have a normal myelination pattern.

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Now, if I go up more superiorly, I'm

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seeing irregular sulcation pattern.

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So this patient has what

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looks like polymicrogyria.

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And again, this hemisphere looks a tiny

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bit larger, and while there's a little

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bit more hypointense appearance on T2 and

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hyperintense appearance on T1-weighted

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imaging of the white matter, that can

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be seen with accelerated myelination.

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Well, accelerated myelination and

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asymmetrically enlarged hemisphere,

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or portions of a hemisphere.

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is a finding that can be seen with hemimegaly

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encephaly now hemimegaly encephaly does not even

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have to involve the whole hemisphere, it can

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be subhemispheric hemimegaly encephaly, then

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this patient has polymicrogyria, which also

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can be associated with hemimegaly encephaly.

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So let's take a look again at the cheek mass.

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So, a biopsy of this.

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showed that there was a

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mutation in the PIK3CA gene.

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What does that mean?

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Well, the PIK3CA gene is noted to be associated

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with a rare congenital overgrowth syndrome

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known as Clove's syndrome, C L O V E S.

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That is an acronym for, you know,

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congenital lipomatous overgrowth.

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There's vascular malformations, epidermal

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nevi, and skeletal abnormalities.

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So this lipomatous overgrowth here of

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the cheek is actually related to Clove

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syndrome with this PIK3CA mutation.

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Now we just went through that acronym

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and I don't see anything necessarily

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about the brain malformation, except

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remember one of them is overgrowth.

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And you could say that there's overgrowth

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of the brain, but it's noted that

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the PIK3CA mutation is actually a

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different mutation in the PIK3CA gene.

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is associated with hemimegaly encephaly.

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So it's not unexpected that someone with

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Clove syndrome may have hemimegaly encephaly.

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It just happens to be contralateral to

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the lipomatous overgrowth on the face.

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So this patient has a facial lipomatous

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overgrowth, right-sided hemimegaly

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with polymicrogyria and accelerated

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myelination in the setting of Clove syndrome.