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J Paediatr Child Health. 2013 Oct;49(10):820-4. doi: 10.1111/jpc.12292. Epub 2013 Jun 18.

Clinical and neurological findings of severe vitamin B12 deficiency in infancy and importance of early diagnosis and treatment.

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  • 1Department of Pediatrics, YYU School of Medicine, Istanbul, Turkey.



Nutritional vitamin B12 deficiency among children in developing countries may lead to a severe clinical status. In this article, the clinical manifestations of vitamin B12 deficiency and the consequences of delay in its diagnosis have been evaluated.


A total of 41 patients who were hospitalised and treated with the diagnosis of severe vitamin B12 deficiency in the paediatric haematology department of the hospital were enrolled in the trial. The diagnosis of severe vitamin B12 deficiency was based on haematological values, a serum vitamin B12 level of <100 pg/mL and a normal level of folic acid. Mental, neuro-motor and social developments of the enrolled patients were assessed by the same physician using the Ankara Developmental Screening Inventory.


The mean age of 25 male and 16 female patients was determined as 12 (6-18 months) months. Almost all of the children had been fed with breast milk and a poor nutritional state was found in all of the mothers. Non-specific findings such as growth retardation (78%), hyperpigmentation of the skin (78%), diarrhoea (63.4%), convulsion (14.6%), weakness, reluctance to eat, vomiting, irritability and tremor were found in all the patients, in addition to hypotonia, motor retardation and pallor. Treatment with vitamin B12 provided recovery in all the patients. The mean age of the patients with full recovery was 11.7 months, while the mean age of patients with partial recovery was 12.9 months.


As a delay in the diagnosis causes irreversible neurological damage, early diagnosis and treatment is highly important.

© 2013 The Authors. Journal of Paediatrics and Child Health © 2013 Paediatrics and Child Health Division (Royal Australasian College of Physicians).


early diagnosis; infant; neurological finding; vitamin B12 deficiency

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