So NF1 and NF2 are two
important genetic conditions
but not the only ones
that we should know.
Let's now transition to talk about
The third inherited
or genetic condition
that affects the nervous system.
And let's talk about a case.
A 2.5-month-old infant
with spasms or infantile spasms.
This young month old individual was
referred to the neurology department
for evaluation of
a tumor in the heart
that was discovered prenatally.
And now the patient has undergone
MRI of the brain
with multiple lesions on the brain
nodules including at this key area,
the foramen of Monro,
which drains spinal fluid,
as well as other findings
and radial migration lines.
The patient was brought to the
emergency room at two months of age
due to concern for infantile spasms,
a type of severe seizure disorder
and evidence of multiple
hypopigmented lesions on the skin,
not the dark spots
or the café au lait macules
like we see with NF1,
but hypopigmented lesions
that were concerning
for an ash-leaf macule.
The patient was evaluated
with continuously EEG,
which demonstrated findings
concerning with infantile spasms,
and was started on steroid therapy.
Although it was partially effective,
the spasms continued
and the patient was treated with a
medication called vigabatrin,
which is a very good drug
to treat seizures
in patients with tuberous sclerosis.
And she had a remarkable response
and was spasm free.
She was weaned off the agent
and did not have further seizures.
So what's the diagnosis?
Well, there are several important
clinical features in this case.
The first is the presence of
even prenatally and diagnosed
with a prenatal ultrasound,
which is important tip off
to a genetic syndrome.
There are cortical tubers
on the brain,
so brain abnormalities,
infantile spasms, or seizures,
which is the presenting symptom
in tuberous sclerosis.
that look like this.
Here we're looking
at the torso of a child,
and we see the normal skin color
and to light lesions,
that again are well demarcated,
You can draw a line
around these lesions
that look like something we call
And what's the diagnosis?
Is this NF1, NF2, schwannomatosis,
or tuberous sclerosis?
Well, the patient doesn't have
manifestations of NF1.
We see hyperpigmented lesions,
in NF1 not hypopigmented lesions.
As in this case, the patient
isn't presenting with hearing loss
like what we would
expect with NF2.
Schwannomatosis typically presents
an adult's not very young children,
and often with ridiculoapathy
or multiple tumors.
on the peripheral nerve.
This is a classic presentation of a
patient with tuberous sclerosis.
80% of patients
present with seizures.
The ash-leaf hypopigmented macules
are the most common clinical finding
that we see
to help establish the diagnosis.
And this is a typical presentation
of this disorder.