Seizures Flashcards
Genetics for Neurofibromatosis Type 1
Autosomal Dominant
Chromosome 17
Affects 1/4000
Neurofibromas Cafe-au-lait spots Axillary freckling (Crowe's sign) Liche nodules (Iris hamartomas) Developmental delay Scoliosis Pheochromocytomas
Neurofibromatosis Type 1
Genetics for Neurofibromatosis Type 2
Autosomal Dominant
Chromosome 22
Affects 1/ 100,000
Multiple intracranial schwannomas
- Bilateral acoustic neuromas
Meningiomas
Ependymomas
Neurofibromatosis Type 2
Genetics for Tuberous Sclerosis
Autosomal dominant
TSC1 Gene: Hamartin protein
TSC2 Gene: Tuberin protein
Poliosis (patch of grey hair) Angiofibromas (Adenoma sebaceum) - Butterfly rash of small spots Ash leaf spots (depigmented lesions) - Fluoresce under UV light (Wood's lamp) Shagreen patches (rough skin over lumbar spine) Sub/peri-ungal fibromata (under nails) Cafe-au-lait spots Developmental delay
Tuberous Sclerosis
Tuberous Sclerosis is associated with
Seizures Rhamdomyomas in heart Gliomas in brain PCKD Hamartomas in retina - dense white areas (phakomata) Lymphangioleiomyomatosis in lungs
Age 4-8 months
Repeated flexion + extension (salaam attacks)
- up to 50
- Last a few seconds
Infantile spasms (West Syndrome)
Investigations for infantile spasms
EEG: dramatic hypsarrhythmia
CT: diffuse or localised brain disease
- tuberous sclerosis
Management for infantile spams (West syndrome)
Poor prognosis
Vigabatrin
ACTH
Teenage girls
Infrequent generalised seizures (morning)
Daytime absences
Sudden shock like myoclonic seizures
Juvenile myoclonic epilepsy (Janz syndrome)
Management for Juvenile myoclonic epilepsy (Janz syndrome)
Sodium valproate
Paraesthesia upon waking up
- usually unilateral face
Benign rolandic epilepsy
1-5 years old
Hx of infantile spasms
Severe mental disability
Atypical absences, falls and jerks
Lennox-Gastaut Syndrome
Investigations for Lennox-Gastaut Syndrome
EEG: Slow spike
Management for Lennox-Gastaut Syndrome
Ketogenic diet may help
Signs favouring pseudo-seizures
Pelvic thrusting Crying post seizure Gradual onset Doesn't occur when alone FHx of epilepsy Female
Widespread convulsions with absence of decreased consciousness
Pseudo-seizure
Investigation for pseudo-seizure
Video recording
Prolactin should be low (prolactin is raised in true seizures)
Febrile convulsions are associated with
Acute epiglottis
Roseola infantum
Tonic clonic seizure in 6 months - 5 year olds
- occur early in viral infections
Febrile convulsion
- 3% of kids
- 30% reoccur
Management of febrile convulsions
> 5 mins or first seizure = call 999
If recurrent: Rectal diazepam
Buccal midazolam