0:00

This was a child who presented with hypoadrenocorticism

0:04

as well as visual disturbance.

0:06

We have the FLAIR scan,

0:08

the T2-weighted scan,

0:10

and the ADC maps.

0:12

As we scroll superiorly,

0:13

initially, the posterior fossa looks pretty good,

0:16

and as we get further superiorly,

0:18

we notice that there is an area of abnormal signal

0:22

intensity in the splenium of the corpus callosum,

0:25

extending just into the parietal white matter bilaterally.

0:30

There does not appear to be hemorrhage,

0:33

and on the

0:35

diffusion-weighted ADC map,

0:39

there is no evidence of cytotoxic edema.

0:44

You can see that on the DWI image as well.

0:48

So, given that this is a child,

0:49

we would look for other things,

0:50

such as hemorrhage,

0:52

to ensure that this was not a traumatic injury

0:55

to the splenium of the corpus callosum.

0:57

Indeed, it was not.

0:59

The key to this case is the performance

1:03

of the post-gadolinium enhanced scan.

1:06

Because the post-gadolinium enhanced scan

1:08

shows that there is contrast enhancement within the

1:12

splenium of the corpus callosum.

1:14

That is...

1:16

The evidence of contrast enhancement within a

1:19

dysmyelinating disorder is distinctly unusual.

1:23

So between the posterior recollection of this

1:25

dysmyelinating disorder in a child,

1:28

coupled with the enhancement of that dysmyelinating

1:32

disorder, and the classic history of hypoadrenalism

1:35

and visual disturbance,

1:37

leads to the diagnosis of adrenal leukodystrophy.

1:41

So ADL is what might be written down,

1:44

and that's not activities of daily living,

1:46

but adrenal leukodystrophy for this particular case.

1:50

on this child.

1:52

And I mentioned adrenomyeloleukodystrophy.

1:55

There are variants to this disease that affect the spinal cord,

2:00

and in general,

2:01

the posterior aspect of the spinal cord.

2:03

So when one sees both the brain involvement and the spinal

2:06

cord involvement,

2:07

we would call it adrenomyeloleukodystrophy,

2:10

where you may see that ADML acronym, if you will.

2:15

As I stated in the slide section on this entity,

2:20

this is a disease process which can be

2:23

treated with dietary manipulation,

2:26

with resolution of the problem in the white

2:30

matter and patient symptoms resolving.