Objective.

To describe the difficulties in diagnosing visceral leishmaniasis (VL) when revealed by hemophagocytic syndrome (HS) in young children.

Design.

Retrospective study of patients identified over a 17-year period in French pediatric units.

Results.

This series comprises 12 cases of VL that were either revealed (n = 11) or complicated (on starting treatment with antimony salts [n = 1]) by HS. Clinical manifestations were those of severe VL with sustained high fever and hepatosplenomegaly in children in very poor condition. Biological manifestations always included pancytopenia, marked hypofibrinogenemia and hypertriglyceridemia, hepatic cytolysis, and prominent hemophagocytosis on the bone marrow smear. These features led to transfer to a hematology unit. Ten children were very young (<38 months) at onset (and consequently at infection). Signs of autoimmunity (Coombs' test-positive erythrocytes, antinuclear factors, and various autoantibodies) were found in 4 cases and were probably secondary to polyclonal B cell activation. Serologic tests forLeishmania were negative at onset in 6 children, and no amastigotes were found on the first marrow smear in 8 of 12 cases despite extensive search. Seven patients had not visited foreign countries. All these factors explain the initial diagnostic confusion. Three cases were initially misdiagnosed as familial erythrophagocytic lymphohistiocytosis or infection-associated HS, and these patients were treated with etoposide (once for 5 months) to control the HS after failure of steroids. The diagnostic delay in these cases was 50, 74, and 134 days. When VL was finally diagnosed, amphotericin B monotherapy was effective in 4 cases. Eight patients were treated with antimony salts; 4 were cured, 3 required adjunctive treatment, and 1 worsened (HS) and was cured with steroids and liposomal amphotericin. Regardless of the type of therapy, all 12 children are presumed cured with a mean follow-up of 7 years (range: 6 months–16 years).

Conclusions.

A diagnosis of VL should, therefore, be seriously considered in all young patients with HS exposed to visceralizing Leishmania sp in Southern Europe. Clinicians and cytopathologists must be aware of the association. Early diagnosis of VL will minimize unnecessary hospitalization and potentially harmful investigations and treatments.

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