Infantile spasms: Etiological factors, clinical aspects, and long term prognosis in 200 cases

Abstract

Abstract. The etiological factors, clinical aspects and long term prognosis were studied in 200 patients with infantile spasms. Forty-eight (24.0%) died and the rest were aged 6 years or more at the time of final follow-up. In 73 (36.5%) the etiology was prenatal, in 44 (22.0%) perinatal, and in 17 (8.5%) postnatal: 18 cases (9.0%) were cryptogenic. The remaining 4.8 (24.0%) patients were doubtful cases. The mortalily of the pre-and perinatal cases at 35.6% and 34.1% respectively was significantly higher than that in the other etiologic groups (P< 0.001).With regard to the onset of spasms, these were very early in the pre-and perinatal groups, whereas in the postnatal group the onset was late. The onset in the doubtful and cryptogenic groups was in between. Some 44.4% of the cryptogenic cases showed normal mental and physical development after the age of 6 years, whereas less than 10% of the prenatal and perinatal group did so, Almost all of the doubtful cases became mentally subnormal.The incidence of a family history of epilepsy or other convulsive disorders in the first, second and third degree relatives was highest in the cryptogenic cases (40.0%), and lowest in the perinatal cases (9.3%) (P<0.01). The incidence of laughing attacks was highest in the postnatal cases (42.9%), against no such attacks in cryptogenic cases (P<0.01). The attacks seemed to be linked with organic brain lesions. Among various factors related to the etiology of infantile spasms, genetic propensity seemed especially important in cryptogenic cases.

Genetic evaluation and counseling for epilepsy

“…a previously cited 3-6% frequency of a positive family history in cases of infantile spasms 36 might have been an overestimate, because the study was affected by ascertainment bias, and might have included inherited forms of this condition that have only recently been recognized, such as X-linked lissencephaly. a family history of epilepsy is, however, quite common in individuals with cryptogenic infantile spasms, occurring in 40% of all cases 37 and suggesting a strong genetic background in this group. recurrence risks can be counseled according to known inheritance patterns (table 1).…”

Magnetic Resonance Imaging Findings in Infantile Spasms: Etiologic and Pathophysiologic Aspects

“…19,20 Among those, tuberous sclerosis seems to have an incidence of 7 to 21%. [21][22][23] The incidence of dysgenesis in our study was 8.1%, and tuberous sclerosis was only 3.4%.…”

West Syndrome Associated with Porencephaly

“…Etiology of the cryptogenic West syndrome is still controversial, but many factors such as hypoxia at birth, encephalitis, meta bolic disorders, tuberous sclerosis, and malformation of the brain were suggested to be associated with the symp tomatic West syndrome [8], With the advent of neuro imaging, some lesions have been detected even in the cryptogenic group. Some authors have described rare cases of infantile spasms with brain tumor [1][2][3][4][5][6].…”