infant / early childhood

Question 1

West Syndrome: Risk of long-term seizures
- Cryptogenic
- Symptomatic

Answer 1

West Syndrome: Risk of long-term seizures
- Cryptogenic: 23%
- Symptomatic 50%

Question 2

Age at which it is apparently recommended to get LP, CXR, and urine testing

Answer 2

<5 months

Question 3

Pyridoxamine 5’-phosphate oxidase deficiency (PNPO)
- defective gene + chromosome
- Inheritance
- Symptoms (2)
- CSF abnormalities (two low, three high)
- Treatment (2)

Answer 3

Defective gene: PNPO (17q21.32)
Inheritance: Autosomal Recessive
Symptoms
- severe refractory neonatal epileptic encephalopathy
- Prenatal seizures
CSF abnormalities
- LOW HVA and 5-HIA
- LOW CSF PLP
- High levels of 5 hydroxytryptophan
-High levels of L-DOPA
- High levels of 3-ortho-methyldopa
Treatment
- Respond to Pyridoxal phosphate but NOT to pyridoxine

Question 4

Cerebral folate deficiency
Onset
Gene
Symptoms: early (5)
Symptoms: later (4)
% with seizures
Seizure types (3)

Answer 4

Onset: typically 4-6 months
Gene: FOLR1
Symptoms (early)
- irritability + disturbed sleep
- Slow head growth
- ataxia
- Choreoathetosis
- ballistic movements
Symptoms - later (2+ years)
- MR
- spastic diplegia
- Visual disturbance
- progressive sensorineural hearing loss
Seizures (seen in 1/3 of patients)
- Myoclonic-atonic
- GTC
- absence

Question 5

Main histopathological finding in West syndrome

Answer 5

FCD

Question 6

West syndrome: Predictors of favorable outcome

Answer 6

• Cryptogenic etiology
• Normal Neuroimaging
• Normal development before onset of spasms