Case: 2.5-month-old Infant with Spasms

00:01 So NF1 and NF2 are two important genetic conditions but not the only ones that we should know.

00:07 Let's now transition to talk about tuberous sclerosis.

00:10 The third inherited or genetic condition that affects the nervous system.

00:15 And let's talk about a case.

00:17 A 2.5-month-old infant with spasms or infantile spasms.

00:23 This young month old individual was referred to the neurology department for evaluation of cardiac rhabdomyomas, a tumor in the heart that was discovered prenatally.

00:33 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 cortical tubers, and radial migration lines.

00:49 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.

01:10 The patient was evaluated with continuously EEG, which demonstrated findings concerning with infantile spasms, and was started on steroid therapy.

01:19 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.

01:31 And she had a remarkable response and was spasm free.

01:34 She was weaned off the agent and did not have further seizures.

01:37 So what's the diagnosis? Well, there are several important clinical features in this case.

01:44 The first is the presence of cardiac rhabdomyomas even prenatally and diagnosed with a prenatal ultrasound, which is important tip off to a genetic syndrome.

01:53 There are cortical tubers on the brain, so brain abnormalities, infantile spasms, or seizures, which is the presenting symptom in tuberous sclerosis.

02:02 Hypopigmented lesions that look like this.

02:05 Here we're looking at the torso of a child, and we see the normal skin color and to light lesions, hypopigmented lesions, that again are well demarcated, well circumscribed.

02:16 You can draw a line around these lesions that look like something we call ash-leaf macules.

02:24 And what's the diagnosis? Is this NF1, NF2, schwannomatosis, or tuberous sclerosis? Well, the patient doesn't have classic cutaneous manifestations of NF1.

02:35 We see hyperpigmented lesions, in NF1 not hypopigmented lesions.

02:39 As in this case, the patient isn't presenting with hearing loss like what we would expect with NF2.

02:45 Schwannomatosis typically presents an adult's not very young children, and often with ridiculoapathy or multiple tumors.

02:51 Multiple schwannomas on the peripheral nerve.

02:54 This is a classic presentation of a patient with tuberous sclerosis.

02:58 80% of patients present with seizures.

03:01 The ash-leaf hypopigmented macules are the most common clinical finding that we see to help establish the diagnosis.

03:07 And this is a typical presentation of this disorder.