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

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

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

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

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)

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

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

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

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

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

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

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