Dr Joepaul Joy, Dr Vinayan KP, Dr VaishakhAnand(Pediatric Neurology), Dr SheelaNampoothiri(Genetics), Dr C Jayakumar AIMS, Kochi
Eleven month old male child preterm first child of non consanguineous marriage, with normal development presented paroxysmal events suggestive of epileptic spasms from 6 months of age.
The child was evaluated, with EEG that was abnormal with normal MRI brain and was started on Vigabatrin, as spasms didn’t control CL obazam and Valproate were added from out side hospital but events continued to persist
Child was alert and active.able to sit without support, momentary stand with support and has pincer grasp, tells occasional bisyllables.
Clinical examination revealed facial dysmorphism with fair skin complexion.
CNS examination showed axial and appendicularhypertonia. Labs showed elevated ammonia and lactate with metabolic acidosis, but repeat values were within normal limits.
Serum Vit B12, homocysteine and serum pyruvatewere were within normal limits. Peripheral blood smear was suggestive of Microcytic hypochromic anemia.
Eight hour VEEG monitoring showed bilateral parieto-temporo-occipital and generalized epileptiform abnormalities with posterior head region emphasis. Recorded several habitual events suggestive of infantile epileptic spasms.
MRI Brain was normal.
VEP, BAEP and NCV were normal.
Fundus showed healthy pink macula in both eyes.
CVS was normal
Inj ACTH @150IU /m2 was started with close monitoring of BP and GRBS during the course of hospital stay. After start of ACTH injection, there was mild improvement in the frequency of spasms. Overall intensity of spasms reduced.
Developmental therapy was initiated. In view of facial dysmorphism and absence of a significant perinatal insult, a genetic etiology for spasms is considered
WES showed heterozygous VUS in JMJD1C which is responsible for myoclonic epilepsy.
Parents were advised to follow up the child on OPD basis, complete the ACTH course, monitor the overall seizure burden and decide upon further treatment.
IESS is a term adopted the International League Against Epilepsy (ILAE) in 2022 to encompass both infants with West syndrome and infants with epileptic spasms who do not fulfill all criteria for West syndrome.
It is a rare disorder with an incidence of 1.6 to 4.5 per 10,000 live births. Multiple diverse insults may cause or be associated with the occurrence of infantile spasms. These include pathogenic genetic variants and acquired factors such as hypoxic-ischemic injury, infectious processes, and structural abnormalities of the brain. While some patients with infantile epileptic spasms syndrome (IESS) have an inherited disorder, such as tuberous sclerosis, most cases are sporadic. There is a family history of infantile spasms in 1 to 7 percent of cases. A genetic susceptibility that is multifactorial appears to exist. However, environmental factors such as anoxia or birth trauma may be required to precipitate seizures.
Traditionally, infantile spasms have been classified as “symptomatic” (known cause) versus “cryptogenic” (no known cause):
●Patients with “symptomatic” infantile spasms have an identified etiology and/or significant developmental delay at the time of spasm onset
●Patients with “cryptogenic” infantile spasms have no known etiology and normal development at the time of spasm onset
Although rare, IESS is a significant disorder because of the strong association with developmental delay or regression, high mortality rate, refractoriness to conventional antiseizure medications, and responsiveness to hormonal therapy.