Two Infants With Infantile Spasms Associated With Vitamin B12 Deficiency

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

“…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].…”

“…Epilepsy has been reported as a rare manifestation of vitamin B12 deficiency. Moreover, few reports have described a causal relationship with manifestation of West syndrome [2,4,7,8]. Although vitamin B12 supplementation often results in rapid improvement of initial hematological and neurological findings, concern has been raised regarding long-term development [2,6,9].…”

Metabolic etiologies in West syndrome

“…The variability in the frequency of such metabolic etiologies may be due partially to the ethnic origin or to the different diagnostic batteries used for detection of such abnormalities. Early diagnosis of certain metabolic etiologies may permit the early initiation of appropriate treatments of WS, which, in certain cases, may ameliorate symptoms or may even lead to the resolution of the disease, such as in phenylketonuria (PKU) or cobalamin (vitamin B12) deficiency . Such cases emphasize the importance of genetic or metabolic screening of newborns when they are suspected to have metabolic diseases …”

“…The disease progression, and treatment options and their success may differ depending on the location of autosomal recessive mutations affecting either the synthesis pathway of the apoenzyme or the cofactor . IS due to MMA accumulation or B12 deficiency is reported in several patients with various responses to vitamin supplements (Table ). In bigger cohorts, the frequency of methylmalonic aciduria among the reported underlying etiologies in infants with IS varies between 0 and10% …”

“…Especially newborn screenings from a basic biochemical test to rapid tandem mass spectrometry or genetic tests if indicated may lead to early detection of these abnormalities even before the appearance of the symptoms . Early identification may also assist in the fast clearance of toxic metabolites (ie, hyperammonemia) and could improve the course of the disease, as in PKU, cobalamin deficiency, or pyridoxine‐responsive seizures. It is beyond the scope of this review to detail the diagnostic workup indicated for each condition or provide guidelines for the physician.…”