0:00

Congenital malformation.

0:02

So we all know Keri two, right? The myelo cyl, Mylo Menil.

0:05

It basically causes a prenatal CSF leak.

0:07

So the tonsils come down,

0:09

but also it affects the, the, uh, cortical folding, um,

0:13

and the migration because you have this essentially

0:15

developmental CSF leak, um, poly micro jia in a,

0:19

in an UNM needed child.

0:21

It can be a little bit hard to diagnose,

0:22

but again, this is a very broad

0:24

and kind of thickened, you know,

0:26

irregular fissure, uh, Sylvie and Fisher.

0:28

And so even if you're not doing a sedated exam, right, just

0:31

to see some of these 2D images to realize that, you know,

0:34

there's something not quite right about this.

0:36

Syl and Fisher, um, holo cephalic, different levels of, uh,

0:40

you know, frontal lobe mal rotation infusion,

0:42

not a subtle diagnosis.

0:44

Uh, tubulopathy, if you see some crazy pan migrational type,

0:47

you know, supinator asymmetric, those are often mutations

0:51

of microtubules because those affect the,

0:53

the actual radial glial fibers along which the neuroglial

0:56

pro genders migrate.

0:57

So again, you know, medical genetics, um, and

0:59

or kind of neuro uh, neurology assessment can be helpful

1:03

for these neuro cutaneous disorders are marked

1:07

by their cutaneous manifestations.

1:08

The surge Weber with this, you know,

1:10

blush over the eyebrow here.

1:12

And so actually this is the normal side, right?

1:14

This is the normally myelinated cortico spinal tract.

1:17

This side is accelerated, right?

1:19

So you have way more myelination T one,

1:21

shortening T two dark than you should in a newborn.

1:24

And you see that there's these dysplastic veins, right?

1:26

So these enhances essentially a venous malformation.

1:29

And so, uh, the brain can't drain in the early stages,

1:33

so it actually has a lot of blood pooling

1:36

and it accelerates myelination.

1:37

It's only later on when those dysplastic, uh, you know,

1:40

cortical veins cannot drain the blood.

1:42

You start to get venous ischemia.

1:44

But in the very early phase, this is actually

1:46

what surge war looks like.

1:48

Tube sclerosis ane was sedation, right?

1:50

So you can have a bunch of tubers,

1:51

which are essentially just migrational anomalies.

1:53

So again, unmyelinated watery brain.

1:56

So you actually have the inverse signal, right?

1:58

It's actually T one bright T two dark.

2:01

Once the patient myelinates, they look the opposite, right?

2:03

They look actually T one dark and T two bright, the tubers.

2:07

But this is what they look like, um, in a neonate.

2:09

And the calcification is really a late finding.

2:11

So usually you only get, uh, a very little,

2:13

a calcification early on.

2:15

Uh, this is a schematic overgrowth,

2:17

so they can have capillary malformations,

2:19

poly dact, poly myco, gy.

2:21

Um, and so this is all pi three ca, um, pathway

2:25

and then nerve continuous melanosis.

2:27

So proliferation of melanocytes in the skin,

2:30

central nervous system.

2:31

Again, this is best done on the neonatal skin

2:34

because as a patient myelinates, these T one deposits start

2:37

to blur with the myelinating brain.