0:00

Uh, inborn metabolic disorder.

0:02

So, um, the key here really is like working with, uh,

0:05

the newborn screening

0:06

or the pediatrician to see what the suspicion is

0:08

because they all have symmetric restricted diffusion, right?

0:12

Basal ganglia, maybe some white matter stuff.

0:14

And then they have supposedly characteristic, you know,

0:17

spectroscopic signatures.

0:19

But unless you have the clinical suspicion

0:21

and the lab test, it's gonna be really hard to like look

0:24

for some very subtle peak.

0:25

But once you have the clinical suspicion

0:27

and you can say, okay, um, you know,

0:29

putting all this together, right?

0:30

This is an inborn error of metabolism.

0:32

And typically these patients, sometimes they can mimic HIE,

0:35

but they had a normal delivery

0:37

and then suddenly they just crump, you know, at some point

0:40

after birth, maybe they had like a little illness

0:42

or a little minor trauma, and then they just

0:44

like decompensate rapidly.

0:45

That's the, uh, usually the history

0:47

for metabolic disorders acquired metabolics.

0:51

So hypoglycemia posterior, uh, circ,

0:53

uh, posterior circulation.

0:54

It's probably like a press like phenomenon, right?

0:57

So you have a poor auto autoregulation, you have, uh,

1:00

low glucose and it tries to like push, uh,

1:03

push the flow here.

1:04

But, uh, you end up getting a kind of posterior,

1:06

often visual cortical injury.

1:09

Um, unconjugated bilirubin, right?

1:11

Jaundiced infant right, will be particularly neurotoxic

1:15

to globus, palus and interna.

1:16

And then in the chronic stage, you'll see atrophy,

1:19

um, hyperammonemia.

1:21

So some of these metabolic acidosis, right,

1:23

can selectively injure the peric and insular regions

1:26

and the basal ganglia.

1:28

And then some cases of osmotic demyelination,

1:30

which actually this patient had HIE

1:32

and then on top of that had dis uh, osmotic dysregulation

1:35

because of the pituitary hypothalamic axis.