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Case Reports
. 1982 Jan;45(1):74-7.
doi: 10.1136/jnnp.45.1.74.

Neurological involvement in hereditary transcobalamin II deficiency

P K Thomas, A V Hoffbrand, I S Smith
Case Reports

Neurological involvement in hereditary transcobalamin II deficiency

P K Thomas et al. J Neurol Neurosurg Psychiatry. 1982 Jan.

Abstract

A case of hereditary transcobalamin II deficiency with neurological involvement is described. The patient presented in early infancy with megaloblastic anaemia and was treated with folinic acid from 6 weeks of age. The diagnosis of transcobalamin II deficiency was not made until he was 2 years old when he showed severely retarded intellectual development, ataxia and pyramidal deficit in the limbs. Following treatment with hydroxocobalamin, his condition has slowly improved but he has remained with a severe neurological deficit. The consequences of vitamin B12 deficiency on neurological development in infancy are discussed.

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References

    1. Am J Med Sci. 1966 May;251(5):507-15 - PubMed
    1. Br Med J. 1967 Jul 29;3(5560):266-70 - PubMed
    1. N Engl J Med. 1971 Nov 18;285(21):1163-70 - PubMed
    1. J Pediatr. 1974 Nov;85(5):622-8 - PubMed
    1. N Engl J Med. 1976 Feb 26;294(9):466-70 - PubMed