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Infantile spasms - Uptodate 2022 - Coggle Diagram
Infantile spasms - Uptodate 2022
clinical features
age <1 y 90% vs epileptic spasms 1d-4.5 y
two phases of muscle activity: 1st sudden, brief <2 sec contraction of neck/trunk/extremities, 2nd longer, tonic phase 2-10 sec
3 types
flexor spasms: sudden flexion of neck, trunk, arms, legs, abdominal muscles - jackknife at the waist
extensor spasms: abrupt extension of neck and trunk with abductopn/adduction of extremities
mixed flexor-extensor spasms: flexion of neck, trznk and arms, extension of legs
body position can affect the type of spasms
clusters, often crescendo-decrescendo pattern
more often at daytime, but may occur during sleep
neurodevelopmental delay/regression
other seizure types occur 1/3-1/2 of patients
clinical course
initial: infrequent spasms + abrupt developmental regression
next: frequency increases, clusters, peak hundreds/24 h, more pronounced regression
3rd: progressive decrease of spasms, appearance of other types of seizures
etiology
CNS malformations: cortical dyplasia 30%, cerebral dysgenesis - Aicardi sy, lissencephaly -Miller Dieker, holoprosencephaly, hemimegalencephaly
tuberous sclerosis complex 10-30%
other neurocutaneous disorers: nevus linearis sebaceous, incontitnentia pigmenti, Ito sy, NF1
chromosome abnormalities 15%, Down sy 18q duplication, 7q duplication, deletion of MGI2 gene on 7q11.23-q21.11, partial 2p trisomy
genetic: ARX, FOXG1, STXP1, CASK, ALG13. PNPO, ADSL, PHACTR1, PLCB
metabolic: PKU, dihydropteridine reductase def, MENKES, pyruvate dehydrogenase complex def, Leigh, histidinemia, pyridoxine def, urea cycle disorers, CDGs
congential infections: toxoplasma, syphilis, CMV, Zika
perinatal: HIE, hypoglycamia, stroke
postnatal: tumor, CNS infection, traumatic injury, near drowning
cryotigenic: probably symptomatic 4-42%
idiopathic
epidemiology: 1.6-4.5/10000 live births
management
monitoring: seccation of spasms + resolution of hypsarrythmia
hormonal
ACTH
high dose: 150 units/m2 per day for three weeks, 80 units/m2 per day for two weeks, 80 units/m2 every other day for three weeks, 50 units/m2 every other day for one week, and taper to zero over three weeks
low-dose ACTH: 20 to 30 units per day for two to six weeks, then taper to zero over one week
uptodate appoach: 20-30 U/d IM for 2 weeks, if hypsarrythmia persists 40 U/d OR 150 U/m2/d for 2 weeks, tapered 30, 15,10 U/m2 for 3 days each, then 10 U/m2 every other morning for 6 days
glucocorticoids
vigabatrin 50 mg/kg/d, escalating to 100-150 mg/kg/day for two weeks, can be continued for 6 mo, may cause MRI changes and vision loss
other AEDs: valproic acid if ACTH ineffective, zonisamide, topiramate, tiagabine, lamotrigine, felbamate
ketogenic diet
surgical treatment
terminology: age-specific disorder in infance or early childhood, triad of spasms + hypsarrythmia +arrest of psychomotor arrest
differential diagnosis
colic
GERD
exaggerated Moro
repetitice body arching
spasticity
benign early myoclonus of infancy FEJERMAN sy
self-limited and progressive myoclonic epilepsies
diagnosis
EEG
interictal hypsarrythmia - generalized high voltage, random, slow waves and spikes - chaotic
ictal: high voltage slow-wave transient followed by backgroung attenuation
lateralized findings: structural brain lesion
MRI: all patients
metabolic: pyridoxine challenge, urine organic acids, serum lactate, biotinidase, CSF neurotransmitters, lactic acid, amino acids, folate metabolites, glucose, and glycine,
genetic: chromosomal studies, aCGH, epilepsy gene panel, WES ( STXBP1, CASK, ALG13, PNPO, and ADSL)
prognosis
dependent on etiology
favorable cognitive outcome 25% - developmental delay 75%
seizure freedom 33%
Lennox-Gastaut 27-50%