Transcript Neurofibromatosis and Seizures *Knowledge is Power*

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
 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
 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
 www.nfmidatlantic.org
 NF Clinic at HUMC