Tuberous Sclerosis in Children

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.