Vitamin B12 deficiency in a breast fed infant.

McPhee, Andrew J; Davidson, Garry J.; Leahy, Mary F.; Beare, Tianna

doi:10.1136/adc.63.8.921

Cited by 66 publications

(50 citation statements)

References 9 publications

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“…1 A healthy newborn infant has sufficient vitamin B 12 stores to last for 6 to 12 months. 9 Therefore, during the first 6 to 12 months of life, nutritional vitamin B 12 deficiency is found only when the mother was deficient in vitamin B 12 during pregnancy, as in our case.…”

Section: Discussionsupporting

confidence: 57%

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

Erol

Alehan

Gümüş

2007

Develop Med Child Neuro

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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.

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Section: Discussionsupporting

confidence: 57%

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

Erol

Alehan

Gümüş

2007

Develop Med Child Neuro

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“…Plasma free homocystine was not detected in any of them and there was no haematological abnormality aside from a borderline mean corpuscular volume for the vegetarian mother. In numerous reports of nutritional vitamin B12 deficiency in infants, the mothers had no clinical manifestation or haematological abnormality at presentation of their infants [4,9,12,17]. Macrocytosis and anaemia may be late consequences of vitamin Bn deficiency [3,8] and their absence in mothers with a history compatible with vitamin Bn deficiency should not exclude the possibility of this diagnosis for them and their infants.…”

Section: Discussionmentioning

confidence: 88%

“…Nutritional vitamin B12 (cobalamin) deficiency has been rarely described in breast fed infants of vitamin B12-deficient mothers consuming a strict vegetarian diet [5,9,13,21,23], or suffering from pernicious anaemia [4,7,10,12,14,17,19,20] or tropical sprue [11]. In most cases, symptoms appear between the 3rd and the 6th months of life.…”

Section: Introductionmentioning

confidence: 99%

Nutritional vitamin B12 deficiency: Two cases detected by routine newborn urinary screening

et al. 1992

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We describe two asymptomatic newborns with nutritional vitamin B12 deficiency in whom increased urinary methylmalonic acid was detected by routine neonatal screening at 3 weeks of age. Both infants were exclusively breast-fed. One mother suffered from pernicious anaemia, and the other was a strict vegetarian. Both mothers had no clinical or haematological abnormality, aside from a borderline mean corpuscular volume for the vegetarian mother. This report illustrates the early appearance of functional vitamin B12 deficiency in breast-fed infants of vitamin B12-depleted mothers. It also demonstrates that urinary methylmalonic acid measurement is a sensitive indicator of tissue vitamin B12 deficiency.

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“…This will be sufficient to last 6-8 months [10] even with a Cbl deficient diet [11]. If, for any reason, there is a reduction in maternal stores of Cbl during the course of the pregnancy then it will not be possible to pass a suitably large reserve on to the infant.…”

Section: Discussionmentioning

confidence: 99%

A Case of Acquired Methymalonic Aciduria Secondary to a Subclinical Maternal Pernicious Anaemia

Gallacher

Prunty²,

Jones³

et al. 2014

J Diabetes Metab

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Inherited methylmalonic acidurias are a group of autosomal recessive disorders caused by mutations in the genes encoding methylmalonyl CoA mutase and proteins involved in cobalamin (Vitamin B12) metabolism. Methylmalonic aciduria can also arise as a result of severe cobalamin deficiency. We report the case of a male infant presenting at 5 months of age with a cobalamin sensitive methylmalonic aciduria, pancytopaenia, developmental delay, failure to thrive, hepatosplenomegaly and hypotonia. MRI brain imaging showed reduced white matter quantity and maturity. The cause was investigated and discovered to be a maternal subclinical pernicious anaemia. A rapid clinical improvement was made upon initiation of B12 supplementation. At follow up aged 18 months weight was above the 91st centile and height between the 75th and 90th. Although no delay in fine motor or social skills was noted at 18 month assessment, gross motor and language delay persisted and may reflect central nervous system damage due to the initial B12 deficiency.Methylmalonic aciduria is relatively frequently detected in patients with lack of dietary B12. If careful assessment of the diet does not provide the answer, it is important to perform laboratory investigations even if no clinical signs or symptoms of pernicious anaemia can be detected. Cobalamin deficiency is common due to dietary restriction or malabsorption. As severe maternal cobalamin deficiency during pregnancy and breastfeeding can lead to devastating effects on the child, universal screening of cobalamin level in pregnancy should be considered.

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Vitamin B12 deficiency in a breast fed infant.

Cited by 66 publications

References 9 publications

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

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

Nutritional vitamin B12 deficiency: Two cases detected by routine newborn urinary screening

A Case of Acquired Methymalonic Aciduria Secondary to a Subclinical Maternal Pernicious Anaemia

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Vitamin B12 deficiency in a breast fed infant.

Cited by 66 publications

References 9 publications

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

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

Nutritional vitamin B12 deficiency: Two cases detected by routine newborn urinary screening

A Case of Acquired Methymalonic Aciduria Secondary to a Subclinical Maternal Pernicious Anaemia

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Product

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

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