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2023

ANUÁRIO DO HOSPITAL
DONA ESTEFÂNIA

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HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS AND VISCERAL LEISHMANIASIS IN PEDIATRIC AGE: A DIAGNOSTIC CHALLENGE

Filipa Marujo1, Catarina Gouveia2, Ana Isabel Cordeiro1, Conceição Neves1, João Farela Neves1

1 - Unidade de Imunodeficiências Primárias, Área da Pediatria Médica, Hospital Dona Estefânia, Centro Hospitalar Universitário de Lisboa Central, Lisboa
2 - Unidade de Doenças Infeciosas, Área da Pediatria Médica, Hospital Dona Estefânia, Centro Hospitalar Universitário de Lisboa Central, Lisboa

- 39th Annual Meeting of the European Society of Paediatric Infectious Diseases (ESPID), reunião internacional, ePoster

Resumo:
Introdução: Leishmania, which is transmitted to human by infected sandflies is endemic is many European countries. Visceral leishmaniasis-related hemophagocytic lymphohistiocytosis (VL-HLH) is a severe, sometimes fatal, disease caused by a cytokine storm in response to an intracellular pathogen. Rapid and accurate identification of leishmania is crucial for clinical strategies, especially in low-incidence areas.
Relato de caso: A 14-months-old boy from non-consanguineous parents, presented with persistent fever for 2 weeks, pancytopenia, and hepatosplenomegaly. One week earlier he presented a maculopapular rash with plantar involvement. Upon admission, an infectious cause for his disease was not identified despite a thorough investigation. He fulfilled criteria for HLH (elevated ferritin; hypertriglyceridemia, hypofibrinogenemia; elevated soluble CD25s and massive CD8 activation) and the bone marrow aspiration showed hemophagocytic macrophages but did not identify Leishmania (including negative Leishmania PCR). Serology for Leishmania was negative. Dexamethasone and immunoglobulin were initiated leading to clinical and laboratory improvement. Citotoxicity and degranulation were normal and no mutation was identified in the HLH-related genes. Two months after, one week after stopping steroids, he again presented with fever and hepatosplenomegaly. Indirect immunofluorescence test for Leishmania showed a titer of 1:256, and a diagnosis of Visceral leishmaniasis (VL) with secondary HLH was made. He was then treated with liposomal amphotericin B (cumulative dose 35mg/kg) but also required prednisolone (20mg/day) and cyclosporine (3mg/kg/day), leading to complete recovery which is sustained for the last 10 months.
Conclusões: Visceral leishmaniasis is a well-known trigger for HLH but its diagnosis can be very difficult and a very high index of suspicion is required. Early diagnosis and treatment with amphotericin B is the standard of care but in some cases corticosteroids and other immunosuppressive drugs can be required to halt the inflammation-driven damages.

Palavras Chave: hemophagocytic lymphohistiocytosis; leishmania; secondary HLH