00:01
Developmental regression:
Loss of previously attained
developmental milestone.
00:06
So we’re going back from that milestone,
back towards a primitive type of behavior.
00:11
Almost always has a bad
prognosis, keep that in mind.
00:15
Onset age, before 2.
00:18
Here, you might be thinking
about mitochondrial disorders
including your mitochondrial
encephalopathy,
lactic acidosis, and
stroke-like symptoms.
00:27
Hypothyroidism, cretinism.
00:30
Neurocutaneous disorders
such as neurofibromatoses.
00:34
And gray matter disorder.
00:35
Remember, bad prognosis.
00:37
Onset before age of two.
00:39
White matter disorder,
metachromatic leukodystrophy.
00:43
Amino acid metabolism such
as PKU or phenylketonuria.
00:47
And enzymatic disorders.
00:49
These are developmental
regression.
00:52
Clinical pearl, bad prognosis,
here, referring to those
differentials before the age of 2.
01:00
The neurocutaneous disorders that
we’ll walk through quickly.
01:03
It’s called tuberous sclerosis complex.
01:06
Not tuberculosis, but
tuberous sclerosis.
01:09
This is an inherited,
hereditary issue.
01:13
Neurofibromatosis, specially we
have neurofibromatosis type 1,
which is known as your neurofibromin
protein or neurofibromin 1 protein.
01:23
And with this, you’ve heard of Café
au lait spots and so on and so forth.
01:28
Sturge-Weber.
01:29
In vascular pathology, with Sturge-Weber,
you’ve talked about port wine syndrome.
01:35
Remember with Sturge-Weber, it’s a problem
with the leptomeningeal blood vessels,
and therefore may result in new
onset seizure in this patient.
01:43
Familial telangiectasia or
you’ve heard of hereditary,
hemorrhagic telangiectasia,
Osler–Weber–Rendu.
01:51
Von Hippel-Lindau disease.
01:52
Remember with Von Hippel-Lindau disease,
you could have bilateral renal cell
carcinoma in a very young patient.
02:00
Along with this, there
could be hemangioblastomas
of the cerebellum
and the retina.
02:05
And we have
incontinentia pigmenti.
02:08
And ataxia telangiectasia.
02:12
Let’s talk about
tuberous sclerosis.
02:14
Autosomal dominant
disorder
To begin with, please understand that
this has nothing to do with an infection.
02:21
Incidence: 1 in 10,000.
02:23
There are two gene loci.
02:25
You have TSC1 on chromosome 9.
02:28
Please memorize hamartin.
02:31
Now, with hamartin, you can play
with that a little bit more
and this is what I
recommended to do.
02:36
You’ve heard of, in pathology, hamartomas
and hamartoma would mean
increased proliferation of cell,
but completely, completely,
non-neoplastic by definition.
02:47
With tuberous sclerosis, there are
important hamartomas that may be seen.
02:53
And one of these hamartoma could be
seen, well, perhaps in the heart.
02:57
What I’m saying is hamartin
chromosome 9, at least know TSC1.
03:04
TSC2, T as in two
and use that to your advantage
with the gene tuberin,
T.
03:13
At least know hamartin with
TSC1 at this juncture.
03:18
The classic Vogt triad of syndrome
include the skin lesions.
03:23
Our topic is under
neurocutaneous
and skin lesions include something like
your ash-leaf spots, shagreen spots.
03:31
There might be convulsions
and these are your tubers that
you might find in the brain
and there might be
intellectual disability.
03:39
With tuberous sclerosis, things
that you’re paying attention to,
the primary symptoms cluster.
03:45
Remember that skin?
In the skin, it’s called
adenoma sebaceum,
ungual fibroma, cortical tubers.
03:52
Those tubers will be
found in the brain.
03:54
And we have subependymal nodules
and multiple retinal astrocytomas.
04:01
The secondary symptoms:
Infantile spasms.
04:04
The ash-leaf spot, as the
name implies, will be white
and it’s hypomelanotic macule.
04:13
And of course, that’s referring to blanch –
I shouldn’t use the word
blanch, but we’ll say pale
and it would be hypopigmented.
04:23
In the heart, we have
these rhabdomyomas.
04:26
Remember, in the
heart, in cardiology,
very rare that you might
have a cancer in the heart.
04:33
However, if by chance you think of a
benign tumor that might be located in it,
and it’s a rhabdomyoma,
then please know that this could be part
of tuberous sclerosis, which is my topic.
04:45
Renal angiolipoma in the kidney.
04:48
And first degree relative with
tuberous sclerosis complex or TSC.
04:54
And keep in mind once
again, at least know TSC1,
which then represents hamartin.
04:59
There is no condition that we see
here, either primary or secondary,
in terms of symptom that truly
would be malignant, is there?
No.