Case: 21-year-old Man with Pain

by Roy Strowd, MD

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    00:01 In this lecture, we're going to talk about Inherited Tumor Syndromes.

    00:05 This is one of my favorite topics in neurology.

    00:07 I'm really excited for you to learn this.

    00:09 It is complicated and complex.

    00:11 These patients are rare, but we see them in neurology, and I want you to understand how to diagnose, monitor, and treat some of these patients.

    00:21 Let's start with a case.

    00:23 So 21-year-old man who presented with pain.

    00:26 He presented to the clinic with increasing pain, limiting activities of daily living.

    00:31 Since birth, he has had multiple birthmarks over his body.

    00:34 More than six.

    00:36 And at puberty, he began to develop small bumps on his skin.

    00:40 He was subsequently confirmed to have Lisch nodules.

    00:43 Those are iris hamartomas.

    00:46 Bumps and spots on the eyes that were evaluated by an eye doctor.

    00:51 By the age of 19, he developed progressive pain in the neck, bilateral upper extremities, head, abdomen, pelvis, and at the sites of his cutaneous lesions.

    01:00 So what's the diagnosis? Well, there's a few clinical features that we should see in this case.

    01:06 The first is this patient has multiple birthmarks.

    01:09 They sound hyperpigmented, like dark spots, and they may be cafe-au-lait macules.

    01:15 So we want to be thinking about an inherited syndrome.

    01:18 The second he has multiple bumps on the skin that are suggestive of neurofibromas.

    01:24 So we may be thinking about a tumor condition that results in increased risk or presence of tumors of the nerves.

    01:32 And this sounds like a genetic disorder.

    01:34 It's been there his entire life.

    01:36 So let's look at some of the characteristic findings in our patient.

    01:40 Here on the left, we see a skin finding.

    01:43 This is this birthmark.

    01:44 This well circumscribed, sharply, demarcated lesion, you can draw a line around it.

    01:50 It's hyperpigmented.

    01:51 And this is the appearance of a cafe-au-lait macule.

    01:55 On the right, we see these bumps, the bumps on the skin.

    01:58 They're out on the surface.

    01:59 Some may be a little bit deeper than in the surface, and there are multiple, all over the arms and legs in this patient.

    02:06 And they have the appearance of a neurofibroma.

    02:10 So what's the diagnosis? Is this NF1, NF2, schwannomatosis, or tuberous sclerosis? Well tuberous sclerosis, as we'll learn is a condition that often presents with seizures, brain findings, and kidney tumors.

    02:24 We don't hear of any of those things in this patient.

    02:26 This patient has cutaneous lesions.

    02:29 This doesn't sound like a diagnosis of TSC.

    02:33 Schwannomatosis.

    02:34 This is a condition that is rare, really rare.

    02:37 And often presents with pain.

    02:39 Our patient has pain, but a lot of skin findings that we don't typically see in schwannomatosis.

    02:45 So we don't like a diagnosis of schwannomatosis.

    02:49 What about NF2? NF2 is an inherited condition.

    02:53 It starts at the beginning of life, but typically presents with hearing loss from bilateral vestibular schwannomas.

    03:00 And this patient does not have hearing loss.

    03:03 This is the classic presentation of adult onset NF1.

    03:08 A very typical presentation of a patient with cutaneous lesions and peripheral nerve lesions that are suggestive of this NF1 diagnosis.

    03:18 So in this lecture, we're going to think about some of these inherited tumor syndromes.

    03:22 We're going to learn about neurofibromatosis type 1, we're going to learn about neurofibromatosis type 2, and we're going to learn about tuberous sclerosis.

    03:31 These are genetic conditions.

    03:33 This is a group of autosomal dominant inherited conditions that are characterized by abnormalities in a tumor suppressor gene.

    03:41 And that abnormality leads to tumor growth.

    03:43 And primarily, we see tumors of the nerves.

    03:46 When you think about these three conditions, I want you to think of them as tumor suppressor syndromes.

    03:52 And when you think about tumor suppressor syndromes, I want you to think about these three diagnoses.

    03:57 NF1, NF2, and tuberous sclerosis.

    04:03 This group of conditions falls into a family of disorders that we call, the phakomatoses.

    04:09 They are neurogenetic conditions.

    04:11 They are neurologic manifestations, and they are genetic conditions.

    04:15 We also call them neurocutaneous syndromes because there's neurologic involvement, and cutaneous findings.

    04:22 This group we call the phakomatoses includes a lot of disorders.

    04:26 Tuberous sclerosis we're going to learn about but other conditions includes Sturge-Weber, Von Hippel Lindau, and Ataxia-telangiectasia.

    04:34 In the next part of this talk, I want to focus on neurofibromatosis.

    04:39 We're going to talk about NF1, we're going to talk about NF2.

    04:42 and I'll mention schwannomatosis.

    04:44 Of these conditions NF1 is the most common, and we should spend the most time learning about that.

    04:50 NF2 is important.

    04:52 It can result in significant manifestations and morbidity from patients that have that disease, and we should also know about that.

    05:00 Schwannomatosis is quite rare.

    05:02 And I want you to know that it looks a lot like NF2.

    05:05 But patients don't have brain tumors and they don't have brain findings.

    05:09 And they really commonly present with pain.

    05:11 So we don't spend a lot of time talking about schwannomatosis.

    About the Lecture

    The lecture Case: 21-year-old Man with Pain by Roy Strowd, MD is from the course CNS Tumors.

    Included Quiz Questions

    1. Lisch nodules
    2. Infantile seizures
    3. Facial paresis
    4. Tinnitus
    5. Renal angiomyolipomas
    1. Café-au-lait macule
    2. Bilateral vestibular schwannoma
    3. Retinoblastoma
    4. Gardner Syndrome
    5. Medullary thyroid carcinoma
    1. ... abnormalities in tumor suppressor genes.
    2. ... autosomal recessive inheritance patterns.
    3. ... central nervous system tumors.
    4. ... similar renal lesions.
    5. ... similar eye lesions.

    Author of lecture Case: 21-year-old Man with Pain

     Roy Strowd, MD

    Roy Strowd, MD

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