Vitamin B12 deficiency as a cause of severe neurological symptoms in breast fed infant – a case report

Abstract

Background: Vitamin B 12 (cobalamin, cbl) deficiency in children is rare and may occurs in exclusively breast fed infants of mothers on vegetarian or vegan diet with lack of appropriate supplementation. The clinical manifestation of vitamin B12 deficiency include neurological disorders, megaloblastic anemia and failure to thrive. Routine and commonly used laboratory tests such as cell blood count (CBC) or serum vitamin B 12 level are sufficient for appropriate diagnosis. Typical therapy is based on intramuscular cobalamin injections. Early diagnosis and early onset of treatment are crucial factors for long-term prognosis of patients as the duration of deficiency may be correlated with the development of long lasting changes in the nervous system. The purpose of this article is to present influence of maternal vitamin B 12 deficiency as a cause of infant psychomotor retardation. Case presentation: We report the case of a 7 months old girl whose parents sought medical advice due to pathological somnolence and developmental regression of their daughter with onset approximately 2 months prior to the visit. Following several diagnostic tests it was determined that the infant's symptoms were due to vitamin B 12 deficiency which was secondary to the mother's latent Addison-Biermer disease. Apart from neurological symptoms the infant also showed megaloblastic anemia which is typical to cobalamin deficiencies. Intramuscular vitamin B 12 supplementation resulted in instant improvement of the patient's general condition and blood morphology. Unfortunately, psychological examination indicated long-term psychomotor retardation due to delayed diagnosis of B 12 deficiency. Conclusions: Vitamin B 12 levels should be considered during differential diagnosis of neurological symptoms in exclusively breast-fed infants especially if they co-exist with megaloblastic anemia and psychomotor retardation.

Vitamin B12 Deficiency Observed in Children With First Afebrile Seizures

“…Recent studies show pro-inflammatory cytokines and anti-inflammatory cytokine IL-10 are all involved in the pathogenesis of epilepsy by exacerbating tissue injury, especially in the brain. After initiation of VB12 treatment cytokine activity decreases, preventing further seizures [ 2 , 5 , 6 ]. In our study, 16 patients had GTC seizures and four patients had AS.…”

“…In infants, VB12 deficiency may be characterized by signs of developmental delay, such as irritability, apathy, ataxia, anorexia, and mental retardation. More rarely, it can cause seizures, including infantile spasm (IS) [ 3 - 5 ]. Seizures even may appear as the first sign of VB12 deficiency [ 1 , 4 ].…”

“…Seizures in infancy have a wide variety of clinical presentations, the outcomes of which differ by etiology. Seizures may occur in the form of generalized tonic-clonic (GTC), atonic (AS), myoclonic (MS), focal seizure (FS) or IS [ 4 , 5 , 7 , 8 ].…”

Elevated Homocysteine after Elevated Propionylcarnitine or Low Methionine in Newborn Screening Is Highly Predictive for Low Vitamin B12 and Holo-Transcobalamin Levels in Newborns

“…This study presents an easily incorporable screening strategy for low VitB12 concentrations in newborns with a significantly higher detection rate compared to previous studies and a low false-positive rate. Severe B12D can have detrimental effects on the development of the infants [ 2 , 5 , 15 ] and early, pre-symptomatic detection of severe deficiencies is regarded as advantageous [ 16 , 17 ]. Thus, the condition may well fulfill the criteria for neonatal screening programs as deduced from general screening criteria by Wilson and Jungner [ 18 ].…”

Vitamin B12 deficiency in children from Northern India: Time to reconsider nutritional handicaps

“…[ 19 ] and Cui et al . [ 21 ] found neuropsychiatric and cognitive dysfunction in 3% of their study population. Children who had normal serum B12 levels and neurological manifestations [20%] might be associated with other co morbidities like inborn errors of metabolism which can lead to cellular level deficiency and early neurological involvement.…”