Neurological involvement in hereditary transcobalamin II deficiency.
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.
D000367:Age Factors; D000748:Anemia, Macrocytic / Q000235:genetics*; D000749:Anemia, Megaloblastic / Q000235:genetics*; D001798:Blood Proteins / Q000172:deficiency*; D002648:Child; D005808:Genes, Recessive; D006801:Humans; D006879:Hydroxocobalamin / Q000627:therapeutic use; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009422:Nervous System Diseases / Q000235:genetics*; D014155:Transcobalamins / Q000172:deficiency*; D014806:Vitamin B 12 Deficiency / Q000175:diagnosis
D001798:Blood Proteins; D014155:Transcobalamins; D006879:Hydroxocobalamin