Neurofibromatosis (NF) and Sturge Weber Syndrome

00:01 Let's switch to now to Neurofibromatosis.

00:05 Specifically neurofibromatosis comes in two types. Type I and Type II.

00:11 Type I is more common.

00:13 For type I neurofibromatosis, a patient has to have several findings to make the diagnosis.

00:20 First off, they only need two or more of the following major criteria This will be six cafe-au-lait spots larger than 5mm if prepubertal or larger than 15mm if post pubertal.

00:38 Keep in mind that these lesions are sort of like the opposite of an Ash leaf spot.

00:45 These are flat, macular but this time hyperpigmented lesions.

00:50 They look a bit like birthmarks, which sometimes people have.

00:55 So, this can be confusing.

00:57 Another criteria for which they need for two or more for the diagnosis is having two or more neurofibromas.

01:05 Neurofibromas are fleshy, rubbery, firm and non tender lesions that show up on the skin.

01:10 It's hard to miss them and you can see some here.

01:13 They may also have one plexiform neurofibroma and that will satifsy that criteria.

01:19 Another criteria we see commonly on children before neurofibromas show up is axillary freckling.

01:26 And you should keep an eye out for that for patients with cafe-au-lait spots.

01:30 Axillary freckling looks like little freckles in the armpits.

01:34 They may also show up in the inguinal area.

01:38 Another lesion that these patients may develop is the Optic glioma.

01:42 This is a lesion that is behind the eye that can cause a unilateral proptosis as you can see in this picture here.

01:50 One interesting finding, which is very very rare but is pointed out a lot sometimes on test questions is that these patients may have a pulsaltile exopthalmus because the retinal artery is pulsing with blood and the eye can actually be seen to bounce up and down or in and out as a result of that pulse.

02:13 Another finding which is consistent with the neurofibromatosis is having two or more Lisch nodules.

02:21 Lisch nodules are seen here in this patient.

02:24 These are little brown lesions that are found in the iris. They are a little bit easier to see in blue-eyed individuals for obvious reasons.

02:36 Another typical finding in neurofibromatosis is a distinctive bony lesion.

02:41 This usually happens on long bones or flat bones and they can show up on both xray or in this case on a bone scan.

02:50 Another criteria, which is actually one of the more common criteria to be satisfied is having a first degree relative with neurofibromatosis.

02:59 Remember, patients with neurofibromatosis can live long and fruitful lives and may have children themselves.

03:04 And their children are at an increased risk because it is inherited.

03:10 So, there are many other lesions that you can see in neurofibromatosis.

03:16 And you should probably read through them as a way of remembering and familiarizing yourself of the disease.

03:22 Some findings that one might see in this disease include sphenoid bone dysplasia.

03:29 Congenital hydrocephalus can be seen.

03:32 Patients may develop pseudoarthrosis.

03:36 Patients can develop Dermal neurofibromas as we've seen in this lecture.

03:43 Attention Deficit Hyperactivity Disorder is associated with neurofibromatosis.

03:49 As is speech and language delay and even Asperger's syndrome.

03:55 All of these are potential complications of neurofibromatosis type I.

04:01 Remember, neurofibromatosis comes in two types. Type I and Type II.

04:06 This two can be distinguished in many ways but a good way to remember it as a student when you are just getting started is Type I will frequently affect the eyes and type two frequently affects the ears.

04:17 The eye finding on type I is the optic glioma which we discussed earlier.

04:22 And in Type II they can have acoustic neuromas.

04:26 The criteria for type II are different from the criteria for type I and they bare looking at.

04:33 Let's switch gears now to Sturge Weber Syndrome.

04:37 Sturge Weber Syndrome is another neurocutaneous syndrome where patients will get classicaly a port-wine stain as it's pictured here on this patient usually in a trigeminal distribution over their face.

04:51 Sturge-Weber is usually present at birth as an agioma.

04:58 about 70% of patients will have an associated glaucoma at birth or soon after birth in the affected area around the eye.

05:08 So, these patients need to be seen by an opthalmologist.

05:12 Patients can have neurologic manifestations from inter cranial vascular anomalies associated with a skin lesion.

05:20 So, for example classically, they may have a seizure disorder, because of neurologic involvement, deep to that red lesion.

05:29 In Sturge Weber, management is largely supportive including anti-seizure medication And aspirin prophylaxis if that complex vascular area is prone to clot and eventually stroke.

05:44 For Cosmesis purposes, we can also provide laser therapy to these patients to allow them to look better as they function throughout their lives.

05:54 That is my summary briefly of the neurocutaneous syndromes.

05:58 Thanks for your attention.