1Unidade de Cuidados Intensivos Pediátricos, Área da Mulher, Criança e Adolescente, Hospital Dona Estefânia, Centro Hospitalar Universitário Lisboa Central, Lisboa, Portugal.
2 Serviço de Neuropediatria, Área da Mulher, Criança e Adolescente, Hospital Dona Estefânia, Centro Hospitalar Universitário Lisboa Central, Lisboa, Portugal.
3 Unidade de Hematologia, Área da Mulher, Criança e Adolescente, Hospital Dona Estefânia, Centro Hospitalar Universitário Lisboa Central, Lisboa, Portugal.
4Unidade de Imunodeficiências Primárias, Área da Mulher, Criança e Adolescente, Hospital Dona Estefânia, Centro Hospitalar Universitário Lisboa Central, Lisboa, Portugal.
5Centro de Referência de Doenças Hereditárias do Metabolismo, Centro Hospitalar Universitário Lisboa Central, Lisboa, Portugal.
- Poster -15th International Symposium of Sociedade Portuguea de Doenças Metabólicas
- Coimbra, 14 a 16 março de 2019
Backgroud: Hemophagocytic lymphohistiocytosis (HLH) is a rapidly progressive, life-threatening syndrome of excessive immune activation, characterized by fever, hepatosplenomegaly, and cytopenia. HLH may have genetic origin (familial or primary HLH) or be secondary to infectious, rheumatic, malignant or metabolic conditions.
Case report: A 10-month old girl, first child of non-consanguineous parents, with two previous miscarriages, was admitted to the PICU due to respiratory syncytial virus pneumonia requiring ventilatory support. She had a previous history of laryngomalacia, impaired growth (since 5 months of age), psychomotor developmental delay, progressive muscle stiffness, retroflexion of the neck and strabismus. On day 6 after admission dexamethasone was started to improve respiratory symptoms. Around day 12, she developed persistent fever, marked progressive hepatosplenomegaly, thrombocytopenia, anemia, hypofibrinogenemia, hypertriglyceridemia, severe hyperferritinemia, elevated liver enzymes and bilirubin. Soluble CD25 was normal and there was no CD8+ T cells activation. Bone marrow showed rare images of hemophagocytosis but no other relevant findings or abnormal cells. There were bilateral symmetrical white matter lesions on cranial MRI with peri-ventricular, central and subcortical distribution with a reduced N-acetylaspartate peak in spectroscopy. Gama-globulin, cyclosporin A and alemtuzumab were started based on the assumption of secondary HLH. Despite intensive therapeutic intervention the infant died due to multiorgan failure after 45 days. Post-mortem investigation showed a very low beta-glucosidase activity, corroborating type 2 Gaucher’s disease (GD) diagnosis.
Conclusion: Associations between HLH and inborn errors of metabolism, namely GD, have rarely been reported in the literature. The underlying process in GD appears to be inflammation subjacent to glucocerebroside accumulation. This inflammatory response could be the link between HLH and GD.
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