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Neurocutaneous Disorders

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Presentation on theme: "Neurocutaneous Disorders"— Presentation transcript:

1 Neurocutaneous Disorders
Neurology Rotation Lecture Series Last Updated by Lindsay Pagano Summer 2013

2 Patient Presentation 5 year old male presents for evaluation of macrocephaly and skin lesions history of seizures, controlled on keppra via PCP skin lesions noted by PCP, mom says new and not birthmarks ?mild scoliosis exam: 90th%ile for HC, bilateral axillary freckling, 7 hyperpigmented areas; neuro exam normal questions? differential?

3 Neurocutaneous Disorders
Neurofibromatosis 1/von Recklinghausen disease Diagnosis 2 or more of: 6 or more café au lait macules FHx in 1st degree relative 2 or more neurofibromas OR 1 plexiform neurofib optic glioma lisch nodules osseous lesion Neuro seizure intracranial tumor nerve sheath, root tumor polyneuropathy vasculopathy macrocephaly learning disability UBOs

4 NF1 Cutaneous Ocular optic gliomas lisch nodules Skeletal scoliosis
café au lait macules Other Ocular optic gliomas lisch nodules Skeletal scoliosis pseudoarthrosis sphenoid dysplasia HTN, renovascular neurofibroma Cutaneous axillary freckling plexiform neurofibromas

5 Neurofibromatosis 2 Cutaneous Neuro Other café au lait macules
intracutaneous tumors subcutaneous nodules skin plaques Neuro acoustic neuromas spinal tumors meningiomas mononeuropathy Other Ocular: posterior subcapsular lens opacities retinal hamartoma epiretinal membrane

6 Tuberous Sclerosis Neuro Diagnosis Other cortical tubers
infantile spasms (50%) subependymal nodules ID, DD giant cell tumors behavioral concerns white mater heterotopia Seizures (90%) Diagnosis TSC1, TSC2 Major, Minor criteria Definite 2 major 1 major + 2 minor Probable 1 major + 1 minor Possible 1 major 2 or more minor Other Ocular retinal hamartomas achromic patches Cardiac atrial rhabdo Renal angiomyolipomas Lung  lymphangioleiomyomatosis (LAM)

7 TS Cutaneous periungual fibroma Shagreen patch hypomelanotic macule
facial angiofibromas

8 Sturge-Weber Syndrome
Neuro Seizures focal  generalized tonic clonic Leptomeningeal angioma pia mater IL to port wine stain MC occipital and parietal areas affected Hypoperfusion injury ID, DD Progressive

9 Sturge-Weber Cutaneous Other Port Wine Stain 10% incidence of SWS
Hemifacial hemangioma CN5 progressive Other Ocular visual field defects glaucoma other vascular anomalies IL heterochromic iris GH deficiency central hypothyroidism

10 PREP Question You care for a 5 year old girl who recently received a diagnosis of neurofibromatosis type 1. Her parents tell you that they have read that NF1 is associated with an increased risk for cancers, and they ask you for more information. Of the following, the MOST accurate statement regarding cancers associated with NF1 is that: Leukemia is an unlikely cancer type Lisch nodules predispose to tumors of the eye Optic glioma most commonly presents at the onset of puberty Pheochromocytoma is common in early childhood Plexiform neurofibromas may show malignant transformation

11 E. Plexiform neurofibromas may show malignant transformation
NF1- facts we haven’t covered Cells have only half the normal amount of intracellular neurofibromin Most tumors are benign, but overall increased risk of malignancy by 5% Plexiform neurofibromas occur in 25% of NF patients, and undergo malignant transformation to neurofibrosarcoma in 10-15% Malignant transformation signs include rapid tumor growth and pain Regarding the other choices: A. Leukemia: myeloproliferative and myelodysplastic leukemias are associated with NF1 B. Lisch nodules: hamartomas in the iris stroma; benign C. Optic glioma: 15% patients; before age 6; benign D. Pheochromocytoma: increased incidence, occurs in adulthood

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