Familial Haemophagocytic Reticulosis

Abstract

A rare and invariably fatal condition, character- ized by progressive erythropenia with or without depression of the circulating granulocytes and platelets despite a highly reactive marrow, has previously been described in adults.The liver, spleen and lymph nodes are enlarged, general intoxication is profound, and there may be a relapsing fever.The course seldom exceeds a few months, and terminally jaundice and purpura may appear.Such cases have been recorded by Scott and Robb-Smith (1939), Anderson (1944) and Asher (1946).We have no desire to complicate further the nomenclature of the reticulo-endothelial system, but we do feel that the name histiocytic medullary reticulosis suggested for this condition by Robb- Smith (1938), although aptly describing the cellular lesion in the lymph nodes, is less appropriate than haemophagocytic reticulosis when the whole disease process is considered.The latter not only indicates the system involved, but also the abnormal process and thus gives a lead to the clinical course the disease may pursue, whereas the names of other reticuloses are often eponymous or purely histo- logical.We have been unable to trace reports of such cases occurring in infants or children, unless those of Reese and Levy (1951) were in fact of haemophagocytic reticulosis, and wish to record two cases in siblings.The disease was rapidly fatal in both instances and in neither was a clinical diagnosis achieved before death.Case Reports Case 1. Robert, aged 9 weeks, was born to young and apparently healthy, unrelated, Gentile parents.Pregnancy had been normal and delivery was by forceps.The birth weight was 8 lb. 2 oz., and his condition satisfactory; he was breast-fed and thrived normally until 11 days before admission when he became apathetic, fretful and, within 48 hours, was febrile and vomiting.During the following week sickness, fever and listlessness persisted, the stools were a little loose and contained mucus, and the skin was oddly muddy or 'sunburnt '.On admission the infant looked ill, he was febrile and had a caf&-au-lait pigmentation of the skin.The liver edge and the tip of the spleen were both palpable three fingerbreadths below the right and left costal margins, but lymph node enlargement was not noted.The Wassermann and Kahn tests were negative in parents and child, the urine was free from abnormal constituents