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
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 NF Clinic at HUMC
NF Clinic at HUMC