1 / 11

Neurocutaneous Disorders

Neurocutaneous Disorders. Neurology Rotation Lecture Series Last Updated by Lindsay Pagano Summer 2013. Patient Presentation. 5 year old male presents for evaluation of macrocephaly and skin lesions history of seizures, controlled on keppra via PCP

vila
Download Presentation

Neurocutaneous Disorders

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

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 plexiformneurofib • optic glioma • lisch nodules • osseous lesion Neuro • seizure • intracranial tumor • nerve sheath, root tumor • polyneuropathy • vasculopathy • macrocephaly • learning disability • UBOs

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

  5. Neurofibromatosis 2 Cutaneous • 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 • epiretinalmembrane

  6. Tuberous Sclerosis Neuro • cortical tubers • subependymal nodules • giant cell tumors • white mater heterotopia • Seizures (90%) • infantile spasms (50%) • ID, DD • behavioral concerns 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 • Leptomeningealangioma • pia mater • IL to port wine stain • MC occipital and parietal areas affected • Hypoperfusion injury • ID, DD • Progressive

  9. Sturge-Weber Cutaneous • 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 • Plexiformneurofibromas 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% • Plexiformneurofibromas 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 myelodysplasticleukemias 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

More Related