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Neurofibromatosis, Hypotonia and Childhood Neurodegenerative Disorders

by Carlo Raj, MD
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    00:01 The neurofibromatosis type 1.

    00:04 When we did our primary brain tumors, at some point in time, we looked at a schwannoma.

    00:10 That schwannoma was arising from a neurofibromatosis type 2.

    00:17 And at that time, with that type 2, I told you to please memorize a particular gene that it codes for called Merlin.

    00:26 Here, we have neurofibromatosis type 1.

    00:30 The name of the gene is NF1, neurofibromin.

    00:35 Incidence: 1 in 3,000.

    00:38 And the name of the gene or protein is neurofibromin.

    00:44 Number one, neurofibromin.

    00:48 Merlin, type 2.

    00:52 Those are important.

    00:55 With neurofibromatosis type 1, our topic here is neurocutaneous.

    01:00 We’re talking about children or young.

    01:04 Pediatric neuropathology is the topic, isn’t it? These mocha-colored macules that you might find on the skin – Mocha-colored, what color is that? Darkened, mocha.

    01:15 Café au lait spots, axillary freckles, Lisch nodules or iris hamartomas.

    01:22 These are important specifically for neurofibromatosis type 1.

    01:26 Another name for neurofibromatosis type 1 is called von Recklinghausen.

    01:34 Plexiform and simple neurofibromas, what does that mean? Now, let me make sure that we’re clear about this, is if neurofibromatosis type 1, once they go into a malignancy, the name of that cancer is called neurofibroma.

    01:48 Clear? You can have different types of neurofibromas.

    01:53 These may include, I’m giving you a couple, plexiform and simple.

    01:58 But really, the point is an -osis, fibromatosis goes onto neurofibroma.

    02:06 Optic glioma.

    02:07 Obstructive type of hydrocephalus and pheochromocytoma could be all part of the syndrome in neurofibromatosis type 1.

    02:15 And once again, please don’t forget about the protein, it’s called neurofibromin.

    02:21 Where is neurofibromatosis type 2, which we’ve talked about already? Also, autosomal dominant, much less common than NF1, but you must know it.

    02:30 Allow the two to speak to you.

    02:32 And by that, I mean type 2, two ears, schwannoma, acoustic neuroma.

    02:38 What I’m saying is neurofibromatosis type 2 may give rise to which cancer? A Schwannoma.

    02:45 The name of that protein here is called a schwannomin or Merlin.

    02:52 Type 2, the chromosome is 22, Merlin.

    02:56 Memorize that, please.

    02:59 With type 2, if it goes on to cancer, what is it? There you go.

    03:03 Bilateral acoustic neuroma, a.k.a., schwannoma.

    03:08 Multiple meningiomas could also be a possibility.

    03:11 Keep that in mind, please.

    03:14 Genetic testing available for both types of NF, neurofibromatoses, and also available for tuberous sclerosis complex.

    03:23 What does that mean to you? At least know hamartin, and I told you about the skin issues and tubers and so on and so forth with TSC.

    03:33 Our topic here is hypotonia.

    03:35 Reduction of postural.

    03:37 In other words, a floppy baby.

    03:39 It may not be associated with significant weakness by definition.

    03:43 It could be central or peripheral in terms of cause .

    03:46 where you find hypotonia in a child Our topic is pediatric neuropathology.

    03:52 Under hypotonia, if it’s central in a child, usually, you’re looking for associated signs of CNS dysfunction: seizures, developmental delay, what does that mean to you? You’re not reaching a particular milestone.

    04:05 You keep this separate from intellectual disability, formally known as mental retardation.

    04:10 Microcephaly and dysmorphic features.

    04:13 If it’s peripheral hypotonia, lack of central signs.

    04:17 Weakness is usually prominent, prominent, here with peripheral.

    04:21 Here, you might be thinking about spinal muscular atrophy, SMA.

    04:26 Peripheral neuropathy, neuromuscular junction abnormalities or perhaps even myopathies.

    04:31 This is the topic hypotonia in pediatric population.

    04:37 The childhood neurodegenerative diseases.

    04:39 Ones that you want to take a look at and have differentials.

    04:43 If you’d notice, macular cherry-red spots, you’re thinking about your hexosaminidase deficiency.

    04:50 Welcome to Tay-Sachs disease.

    04:52 If it’s sphingomyelin, then it’s Niemann-Pick disease.

    04:55 If it’s your glucocerebrosidase deficiency, the most common glycogen storage disease, Gaucher.

    05:04 And metachromatic leukodystrophy.

    05:06 It could be found – Well, macular cherry red spot, we’d do a funduscopic examination and you’d find red spot in the retina, your differentials, are we clear?


    About the Lecture

    The lecture Neurofibromatosis, Hypotonia and Childhood Neurodegenerative Disorders by Carlo Raj, MD is from the course Pediatric Neuropathology. It contains the following chapters:

    • Neurofibromatosis Type 1
    • Neurofibromatosis Type 2
    • Hypotonia
    • Childhood Neurodegenerative Disorders

    Included Quiz Questions

    1. Merlin
    2. Fibrillin
    3. Neurofibromin
    4. Tuberin
    5. Hamartin
    1. Vestibulocochlear nerve
    2. Olfactory
    3. Abducent
    4. Trigeminal
    5. Facial
    1. Gaucher’s disease
    2. Niemann-Pick disease
    3. Metachromatic leukodystrophy
    4. Tay sach’s disease
    5. Neurofibromatosis

    Author of lecture Neurofibromatosis, Hypotonia and Childhood Neurodegenerative Disorders

     Carlo Raj, MD

    Carlo Raj, MD


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