Neurofibromatosis and Seizures “Knowledge is Power” - PowerPoint PPT Presentation

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Neurofibromatosis and Seizures “Knowledge is Power”

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  1. Neurofibromatosis and Seizures“Knowledge is Power” Stephen J. Thompson, MD Chief, Pediatric Neurology Director, Pediatric Neuro-Oncology Hackensack University Medical Center

  2. What is Neurofibromatosis? • Neurocutaneous disorder • Neurologic structures and skin are derived from the same tissue in the embryo • NF-1 • Von Recklinghausen’s Disease • Skin, Brain, Optic nerves, Spinal cord and other nerves… • NF-2 • Hearing loss • Acoustic neuromas and meningiomas

  3. How and Why?-1 • Genetic disorders • NF-1 • Chromosome 17 (17q11.2) • Tumor suppressor gene • Decreased production of neurofibromin • SPRED1 • Another gene with mutations identified in patients with milder form of NF

  4. How and Why?-2 • Inherited • Approximately of cases are 50% are familial • Autosomal Dominant • Spontaneous mutations • NF-1 may occur in 1 of 3000 people

  5. NF-1 Diagnostic Criteria • Clinical diagnosis requires at least 2 of 7 criteria • Six or more café-au-lait spots • > 5 mm under age 10 yeasr or 15 mm in adults • Axillary or inguinal freckles • 2 or more neurofibromas or 1 plexiformneurofibroma • Optic nerve glioma • 2 or more Lisch nodules (iris hamartomas) seen by slit lamp • Bone lesions • Sphenoid dysplasia or pseudarthrosis (false joint) • 1st degree relative with NF1 (parent or sibling)

  6. NF-1 Clinical Issues-1 Skin lesions Neurofibromas Optic nerve tumors Brain tumors MPNST

  7. NF-1 Clinical Issues-2 • Cognitive and behavioral issues • Significant incidence of ADHD and academic issues (40%) • Other issues: • Short stature • Hypertension • Macrocephaly • Precocious puberty • Bone lesions or scoliosis

  8. Seizures Risk in NF-1 • 4-7% of patients with NF may develop seizures • Approximately 2x the incidence in the general population • Not related to “UBOs” (unidentified bright objects) • Often related to tumors

  9. Diagnostic Tests for Seizures in NF-1 EEG Video EEG MRI and MRS

  10. Treatment Considerations-1 • Medications specific for type of seizure • Different medications for focal onset vs. generalized seizures • Age and developmental status of patient • Administration of medication • Liquid vs. tablets/capsules • Attention to medication side-effects • Effect on cognition • Interactions with other medications

  11. Treatment Considerations-2 • Focal seizures due to tumor • Resection if possible • Reduce need for medication • Management of the tumor itself

  12. Resources • Neurofibromatosis Mid-Atlantic • www.nfmidatlantic.org • NF Clinic at HUMC