Loss of previously attained
So we’re going back from that milestone,
back towards a primitive type of behavior.
Almost always has a bad
prognosis, keep that in mind.
Onset age, before 2.
Here, you might be thinking
about mitochondrial disorders
including your mitochondrial
lactic acidosis, and
such as neurofibromatoses.
And gray matter disorder.
Remember, bad prognosis.
Onset before age of two.
White matter disorder,
Amino acid metabolism such
as PKU or phenylketonuria.
And enzymatic disorders.
These are developmental
Clinical pearl, bad prognosis,
here, referring to those
differentials before the age of 2.
The neurocutaneous disorders that
we’ll walk through quickly.
It’s called tuberous sclerosis complex.
Not tuberculosis, but
This is an inherited,
Neurofibromatosis, specially we
have neurofibromatosis type 1,
which is known as your neurofibromin
protein or neurofibromin 1 protein.
And with this, you’ve heard of Café
au lait spots and so on and so forth.
In vascular pathology, with Sturge-Weber,
you’ve talked about port wine syndrome.
Remember with Sturge-Weber, it’s a problem
with the leptomeningeal blood vessels,
and therefore may result in new
onset seizure in this patient.
Familial telangiectasia or
you’ve heard of hereditary,
Von Hippel-Lindau disease.
Remember with Von Hippel-Lindau disease,
you could have bilateral renal cell
carcinoma in a very young patient.
Along with this, there
could be hemangioblastomas
of the cerebellum
and the retina.
And we have
And ataxia telangiectasia.
Let’s talk about
To begin with, please understand that
this has nothing to do with an infection.
Incidence: 1 in 10,000.
There are two gene loci.
You have TSC1 on chromosome 9.
Please memorize hamartin.
Now, with hamartin, you can play
with that a little bit more
and this is what I
recommended to do.
You’ve heard of, in pathology, hamartomas
and hamartoma would mean
increased proliferation of cell,
but completely, completely,
non-neoplastic by definition.
With tuberous sclerosis, there are
important hamartomas that may be seen.
And one of these hamartoma could be
seen, well, perhaps in the heart.
What I’m saying is hamartin
chromosome 9, at least know TSC1.
TSC2, T as in two
and use that to your advantage
with the gene tuberin,
At least know hamartin with
TSC1 at this juncture.
The classic Vogt triad of syndrome
include the skin lesions.
Our topic is under
and skin lesions include something like
your ash-leaf spots, shagreen spots.
There might be convulsions
and these are your tubers that
you might find in the brain
and there might be
With tuberous sclerosis, things
that you’re paying attention to,
the primary symptoms cluster.
Remember that skin?
In the skin, it’s called
ungual fibroma, cortical tubers.
Those tubers will be
found in the brain.
And we have subependymal nodules
and multiple retinal astrocytomas.
The secondary symptoms:
The ash-leaf spot, as the
name implies, will be white
and it’s hypomelanotic macule.
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.
In the heart, we have
Remember, in the
heart, in cardiology,
very rare that you might
have a cancer in the heart.
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.
Renal angiolipoma in the kidney.
And first degree relative with
tuberous sclerosis complex or TSC.
And keep in mind once
again, at least know TSC1,
which then represents hamartin.
There is no condition that we see
here, either primary or secondary,
in terms of symptom that truly
would be malignant, is there?