Abstract
History: We report on a seven-month-old infant presenting with developmental retardation of unclear origin. After an uneventful pregnancy and birth he first reached his developmental milestones in time. At the age of four months his development came to a halt and he failed to thrive. Furthermore, he had muscular hypotonus and suffered from dysphagia and apathy. Till then he was completely breast-fed. The patient is the first child of non-consanguine parents. The parents did not suffer from any relevant disorders. Results: The cranial MRI showed normal myelination, but atrophy of the brain. His EEG revealed minor general alterations. The results of eye examination and audiometry were normal. Primary blood examination uncovered megaloblastic anemia and hyperhomocysteinemia. Urinary analysis of organic acids showed increased levels of methylmalonic acid, while the serum levels of methionine were low. A vitamin B12 deficiency was found to be the reason for these changes. Blood samples of the mother also showed low levels of vitamin B12. Therapeutic measures: Vitamin B12 was substituted by intramuscular cobalamin injections in a dosage of 1mg over 2 days. Nutrition was changed from breast-feeding to formula. Already three weeks later, his laboratory results were normal except for a minor elevation of the homocystein serum levels. Apathy and dysphagia dissolved and there was progress in his motor development. Discussion: Decreased levels of vitamin B12 during infancy are usually found in breast-fed infants due to a lack of vitamin B12 in breast milk, particularly when mothers are vegans or suffer from pernicious anemia. In contrast, vitamin B12 deficiency due to congenital metabolic disorders is very rare. By substitution one can reach a partial normalisation of symptoms, but early recognition of the deficiency is crucial. Even with successful substitution, long term consequences such as substandard intellectual capacities may persist.
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