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Neurofibromatosis and Seizures “Knowledge is Power”

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Presentation on theme: "Neurofibromatosis and Seizures “Knowledge is Power”"— Presentation transcript:

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 Spontaneous mutations
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 plexiform neurofibroma 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 Other 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

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 NF Clinic at HUMC
NF Clinic at HUMC

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