Authors: L. Vepřeková 1; J. Starý 2; M. Buncová 3; L. Vitnerová 4; E. Hrubá 4; K. Toušovská 5; J. Zeman 4 Authors‘ workplace: I. interní klinika - CHL, 1. LF UK, Praha1 přednosta prof. MUDr. P. Klener, DrSc. II. dětská klinika 2. LF UK, Praha2 přednosta prof. MUDr. J. Vavřinec, DrSc. Radioizotopové pracoviště IKEM, Praha3 prim. MUDr. M. Buncová, CSc. Klinika dětského a dorostové Published in: Čes-slov Pediat 2003; (7): 461-463. Category:
Authors report clinical symptoms and the results of haematological and metabolic investigations in the girl withmegaloblastic anaemia 1 (Imerslund-Gräsbeck). In the girl with normal development till the age of 3 years, severetransfusion dependent megaloblastic anaemia (Hb 44 - 60 g/l, MCV 103 - 120 fl), ataxia and progressive mentaland motor deterioration developed. Her tongue had a smooth red atrophic mucous membrane and she hadnon-selective proteinuria (0.4 - 0.8 g/l). The bone marrow was hypercellular with dyserythropoetic changes, largemetamyelocytes and hypersegmented neutrophiles. The level of serum vitamin B12 was low (B12 < 60 ng/l, normallevel being > 180), the serum folate level was normal. Metabolic investigations revealed severe hyperhomocysteinaemia(P-homocystein 153.3 mol/l, controls < 10) and methylmalonic aciduria (U-MMA 499 mmol/mol creat.,controls < 15). Low absorption of vitamin B12 was found using the Shilling test. Histochemical investigations ofgastric biopsy revealed no mucous atrophy. After parenteral treatment with vitamin B12 the percentage ofreticulocytes promptly increased from 6 to 237 per mille and subsequently all haematological and metabolicparameters of the disease normalised. The girl also improved clinically and now, at the age of 5.5 years, the girl isin very good clinical condition, only mild proteinuria persists.
Key words: megaloblastic anemia, vitamin B12
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