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Tuberous Sclerosis in Children

by Brian Alverson, MD
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    00:01 In this lecture, we are going to discuss the neurocutaneous syndromes.

    00:06 Specifically Tuberous Sclerosis neuro fibro Mytosis And Sturge-Weber So let's start with Tuberous Sclerosis.

    00:14 Tuberous sclerosis is of autosomal dominant inheritance.

    00:18 It has variable penetrance. Some patients are more affected than others.

    00:22 And the lesion is found on chromosome 9.

    00:25 Roughly 2/3 of cases are sporadic.

    00:29 And it is a clinical diagnosis generally based on major and minor criteria.

    00:35 It's divided into major and minor features as are many of diseases like this.

    00:39 And so we need to decide how to diagnose it based on how many of each of these various features are present.

    00:46 If patients has a definitive diagnosis if they have two major or one major and two minor A probable diagnosis if they have one major and one minor and a possible diagnosis if one major and two minor.

    01:02 Ok.

    01:03 What are the major and minor criteria? They are extremely long.

    01:08 And I don't think it is likely to be valuable.

    01:10 For me to memorize all of the major and minor criteria but you should have a general familiarity with things that might present.

    01:18 Things like in the major criteria, Cortical tumors or facial angiofibromas.

    01:24 In the minor criteria, things like Bone cysts or gingival fibroma.

    01:29 So, the point is they can have many findings in these two categories.

    01:35 Let's go to through some of the really important major criteria that we see in the vast majority of patients.

    01:42 The first is the ash leaf spot.

    01:45 Ash leaf spots are likely to show up on your exams.

    01:49 Ash leaf spots are some of the first findings we find in children with tuberous sclerosis.

    01:56 Typically, patients will have an area that is macular, it is not palpable.

    02:01 And it is hypopigmented.

    02:03 It's a flat slightly less pigmented area on the skin.

    02:08 If the patient has one and you would want to look for more, a clever trick is to get out at woods lamp and shine Because an Ash leaf spot that hasn't yet shown up, maybe visible by woods lamp.

    02:23 The next possible finding usually shows up a little bit later.

    02:27 In children perhaps 3-5 years of age.

    02:30 They will develop Adenomatous Sebaceum.

    02:34 Adenomatous Sebaceum are firm rubbery nodules that spread over the face as you can see in this child.

    02:41 This is pathognomonic for this condition.

    02:45 Next patients may display a lession on the skin called a Shagreen Patch.

    02:51 This usually happens a little bit later on in older childhood.

    02:56 the shagreen patch is a firm rubbery type raised lesion, which is often slightly hyperpigmented and tends to come out in a patch.

    03:06 Usually on the trunk or the proximal extremity.

    03:10 And last patients can develop periungual fibroma.

    03:14 This is a firm rubbery lesion that happens around the edge of a nail.

    03:20 In terms of clinical presentations, there are a few problems in this children we run into.

    03:27 We need to remember that are primary issue is that they are growing tuberous.

    03:31 This rubbery firm nodules.

    03:33 And they can happen in many places within the body.

    03:36 In the heart, these patients can develop non-renal hamartomas They can occur in the heart. They can cause arrhythmias.

    03:45 Especially if they are at the artrial sanctum.

    03:49 Tubers may form in the brain.

    03:52 And this is the common cause of epilepsy in these children.

    03:56 They often develop before the age of four years.

    03:59 And this is a minor criteria for these disease.

    04:04 Lungs, kidneys, and retinas can also be involved.

    04:08 Any of these areas can be involved and they can have deficiencies as a result of them.

    04:12 And remember, that all care is supportive. There is no known cure.

    04:16 Children and adults with this condition have a variable presentation and will treat them supportively depending on what is going on.


    About the Lecture

    The lecture Tuberous Sclerosis in Children by Brian Alverson, MD is from the course Pediatric Neurology.


    Included Quiz Questions

    1. Adenomatous sebaceum
    2. Optic glioma
    3. Axillary freckling
    4. Café-au-lait spot
    5. Lisch nodules
    1. It is due to a defect in chromosome 6.
    2. It has variable penetrance.
    3. 2/3 of cases are sporadic.
    4. The patient is said to have a probable diagnosis when they have one major and one minor feature.
    5. Facial angiofibroma is considered as a major feature of tuberous sclerosis.
    1. Shining a woods lamp
    2. MRI of the whole body
    3. Applying KOH all over the skin.
    4. Applying a radioactive gel all over the child’s body.
    5. There is no possible way.
    1. Periungual fibroma
    2. Periungual adenomatous sebaceum
    3. Shagreen patch
    4. Periungual hamartomas
    5. Osler’s nodes
    1. Arrhythmias
    2. Seizures
    3. Heart failure
    4. Renal failure
    5. Skin malignancy

    Author of lecture Tuberous Sclerosis in Children

     Brian Alverson, MD

    Brian Alverson, MD


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