Neurofibromatosis (NF) and Sturge Weber Syndrome

by Brian Alverson, MD

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    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.

    About the Lecture

    The lecture Neurofibromatosis (NF) and Sturge Weber Syndrome by Brian Alverson, MD is from the course Pediatric Neurology. It contains the following chapters:

    • Neurofibromatosis
    • Sturge Weber Syndrome

    Included Quiz Questions

    1. Café-au-lait spots
    2. Adenomatous sebaceum
    3. Ash leaf spots
    4. Shagreen patch
    5. Periungual fibroma
    1. 1 plexiform neurofibroma
    2. 1 neurofibroma
    3. 10 or more Café-au-lait spots
    4. Acoustic neurofibroma greater than 2 cm
    5. Racemic neurofibroma more than 2
    1. Lisch nodules
    2. Optic glioma
    3. Basal cell carcinoma of the eye
    4. Neurofibroma
    5. Hamartomas
    1. Obsessive-compulsive disorder
    2. Sphenoid dysplasia
    3. Congenital hydrocephalus
    4. Asperger’s syndrome
    5. Pseudoarthrosis
    1. Sturge-Weber usually presents as a hamartoma at birth.
    2. The port-wine stain is present in the trigeminal distribution area on the face.
    3. Glaucoma is seen in about 70% of the patients.
    4. Sturge-Weber patients can present with seizures.
    5. Neurological manifestations are due to intracranial vascular anomaly.
    1. Laser therapy
    2. Aspirin
    3. Carbamazepine
    4. Iodine wash
    5. Bevacizumab

    Author of lecture Neurofibromatosis (NF) and Sturge Weber Syndrome

     Brian Alverson, MD

    Brian Alverson, MD

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    Excellent lecture
    By Jalil Z. on 27. February 2021 for Neurofibromatosis (NF) and Sturge Weber Syndrome

    Excellent lecture. It's good to have knowledge about these neurocutaneous syndrome.