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Familial haemophagocytic reticulosis.

1968; BMJ; Volume: 43; Issue: 231 Linguagem: Inglês

10.1136/adc.43.231.601

1468-2044

R. J. W. BELL, A. J. Brafield, N D Barnes, N. E. France,

Chronic Lymphocytic Leukemia Research

Familial haemophagocytic reticulosis was described first by Farquhar and Claireaux (1952) in 2 infant sibs in whom various organs were infiltrated by histiocytes showing active phagocytosis of blood cells. 2 more affected infants were born subsequently to this family (Farquhar, MacGregor, and Richmond, 1958).Further reports by Nelson et al. (1961), McMahon, Bedizel, and Ellis (1963), Marrian and Sanerkin (1963), Varadi, Gordon, and Abbott (1964), and Goodall, Guthrie, and Buist (1965) have brought the total of published cases to 15, 4 of which had evidence of encephalitis (Nelson et al., 1961; McMahon et al., 1963).The patients reported in this paper were brothers with similar clinical features including evidence of encephalitis.During the 11 years intervening between their births, 3 normal girls were born to the parents.Case Reports Case 1. Male, birthweight 3060 g., was delivered normally at term after a normal pregnancy.Apart from two mild attacks of upper respiratory infection and an episode of gastro-enteritis, he remained well until the age of 9 months when he began to vomit and had a right-sided convulsion followed by deviation of the head toward the right, nystagmus to the right, and twitching of the right arm and leg.He had a pyrexia of 400 C. The spleen extended to just below the umbilicus and the liver to 2 cm.below the right costal margin.All other systems appeared normal.Investigations showed: Hb 10-6 g./100 ml.; WBC 800/cu.mm.(stabs 8%, neutrophil polymorphs 12%, lymphocytes 78%, monocytes 2%); platelets 66,000/ cu.mm.Bone-marrow from the stemum was normal.CSF: 16 lymphocytes and 64 erythrocytes/cu.mm., protein 50 mg./100ml.; sugar and chloride normal.Blood urea 30 mg./100 ml.; serum calcium 9 5 mg./ 100 ml.; cholesterol 148 mg./100 ml.; serum total lipids 480 mg., fatty acid/100 ml.; bilirubin 0 5 mg./100 ml.; albumin 4-25 g./100 ml., globulin 1-47 g./100 ml.Flocculation tests, Wassermann reaction, Price's precipitin reaction, toxoplasma tests (dye and complement fixation), Mantoux 1 : 1000 were negative.