West syndrome in an infant with vitamin B₁₂ deficiency in the absence of macrocytic anaemia

Abstract

Vitamin B12 deficiency in infants often produces haematological and neurological deficits, including macrocytic anaemia, neurodevelopmental delay or regression, irritability, weakness, hypotonia, ataxia, apathy, tremor, and seizures. The diagnosis of vitamin B12 deficiency can be difficult when the typical macrocytic anaemia is absent. We report the case of a 10‐month‐old female diagnosed with West syndrome associated with vitamin B12 deficiency but without macrocytic anaemia caused by nutritional inadequacy in the mother. The patient's motor skills and cognitive development were normal until she was 9 months old, when she began to exhibit a series of sudden flexions of the head, trunk, arms, and legs. She was exclusively breast‐fed and had received no vitamin supplementation. Results of electroencephalography (EEG) indicated modified hypsarrhythmia and the patient was diagnosed as having West syndrome. Synthetic adrenocorticotropic hormone was administered and although her spasms had resolved, the patient remained apathic and could not sit without assistance. EEG results indicated generalized slow activity. After she was diagnosed as having vitamin B12 deficiency, parenteral treatment with vitamin B12 was initiated. Her symptoms resolved and EEG was completely normal. When she was 20 months old she exhibited an age‐appropriate developmental and neurological profile. To our knowledge, this is the first report of West syndrome as a presenting symptom of 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].…”

West syndrome due to vitamin B12 deficiency

“…Erol et al (11) reported that mental-motor development which was normal until the age of nine months paused with initiation of seizures in this 10-month-old female patient. No pathology was found on physical examination except for apathy, hypotony and reduced deep tendon reflexes.…”

How Does B12 Deficiency of Mothers Affect Their Infants?

“…However, vitamin B 12 deficiency is thought to cause imbalance between the growth factors influencing the central nervous system and neurotoxic cytokines, and increased lactate, glutamate and excitatory amino acids (26)(27)(28). There- (29)(30)(31)(32)(33)(34). We encountered central nervous system signs and symptoms especially in rapidly growing infants in the early period between 2 and 18 months.…”