Infantile spasms: review of the literature and personal experience

Abstract

This epileptic disorder has become a classic topic for neuropediatricians and the interest is documented by the large number of publications on this subject.The relative frequency among the epileptic syndromes is an another reason why not only neuropediatricians but also general pediatricians must be fully informed about diagnostic, clinical, imaging and genetic aspects.Early diagnosis is of paramount importance in order to obtain even complete results in patients with so called idiopathic situations. A number of problems are still to be solved. There is no agreement on the type and the schedule of treatment. A common denominator about this problem is not jet available even if some advances in this regard have been accomplished. Of paramount importance is an accurate clinical and laboratory examination as a prerequisite regarding prognosis and results of therapy in every single case.However, even if more than 170 years have elapsed since the first communication of dr. West on the peculiar syndrome that his child was suffering of, the interest of scientists on this subject has now been enriched and rewarded.

Psychomotor development following early treatment of severe infantile vitamin B12 deficiency and West syndrome – Is everything fine? A case report and review of literature

“…Against the background of symptomatic West syndrome, this adequate long-term development is particularly interesting in our patient. Children with symptomatic ISs have been reported to often evolve other kinds of seizures and neurodevelopmental delay resulting in poor long-term outcome [3,14]. In our patient, seizures have dissolved.…”

“…Typical neurological symptoms in infancy are irritability, weakness, developmental delay and failure to thrive, finally apathy and coma [6,9,10,12]. Epilepsy has been described as a rare manifestation of infantile vitamin B12 deficiency [4,6,9,14]. Moreover, there are isolated reports on an association with infantile spasms syndrome (ISs) and its subset West syndrome [2,7,8].…”

“…The latter describes an age-related triad of epileptic spasms, characteristic EEG findings and developmental regression [3,4,14]. ISs is considered symptomatic in >50% with variable etiology including genetic syndromes, CNS malformations, infections, trauma, neoplasms and metabolic disorders [3,14].…”

Detection of global DNA hypomethylation of peripheral blood lymphocytes in patients with infantile spasms

“…Long-term prognosis of infantile spasms is considerably poor because most patients have concomitant psychomotor retardation (Fois, 2010). The pathophysiology of infantile spasms remain largely unclear (Lux, 2013).…”

Common ABCB1 polymorphisms associated with susceptibility to infantile spasms in the Chinese Han population

“…There is still lack of consensus with regard to current trends in the treatment of infantile spasms. Two options are available at the moment: the first is ACTH or oral corticosteroids, the other is the use of vigabatin or other alternative anticonvulsant drugs (Bobele and Bodensteiner, 1994;Ito et al, 2000;Fois, 2010). The majority of AEDs, which are planar lipophilic agents and theoretical substrates for P-glycoprotein (P-gp) transporter, are not first choice or the gold standard for these patients (Hancock et al, 2001;Wheless et al, 2005Wheless et al, , 2007Willmore et al, 2009).…”