Secondary haemophagocytic lymphohistiocytosis (HLH) and posterior reversible encephalopathy syndrome (PRES) in a patient with B12-responsive late-onset methylmalonic acidemia

Paviolo, Marina;Paquay, Stéphanie;Pichard, Samia;Imbard, Apolline;Schiff, Manuel;et.al.
(2015) Society for the Study of Inborn Errors of Metbolism — Location: Lyon, France (1.September.2015)

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  • Paviolo, Marina
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  • Paquay, StéphanieUCLouvain
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  • Pichard, Samia
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  • Imbard, Apolline
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  • Schiff, Manuel
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  • et. al.
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Abstract
(en) Case report & Results: A healthy 6-year-old girl, presented with a 3-day history of constipation, fever and vomiting progressively deteriorating into coma. Blood gas analysis revealed hypochloremic metabolic acidosis and an increased anion gap. Serum ammonia was 117 μmol/l and organic acid profile revealed urinary excretion of MMA (4200 μmol/mmol creatinine, normal < 5). Protein intake was stopped and intra- venous (IV) glucose, sodium benzoate, L-carnitine and vita- min B12 therapy were started. On the 3rd day after admission, she exhibited microcytic anemia, thrombocytopenia, acute liver and renal failure and insulin resistant hyperglycaemia. Lactate dehydrogenase was 6500 IU/L (300-600) and serum ferritin was 1900 μg/L (15-80). Macrophage activation syndrome was confirmed by bone marrow analysis. We identified EBV reactivation at the origin of such secondary hemophagocytic lymphohistiocytosis (HLH). Dexamethasone and cyclosporine (2 μg/kg/d initially) were administered. On the 4th day of cyclosporine treatment, the patient presented with focal clonic seizures. MRI showed findings compatible with PRES. Levetiracetam treatment was initiated and cyclosporine withdrawn. Six months later, the patient is fully healthy and treated with mild protein restriction, 1 mg/day B12 and L-Carnitine. Conclusions: This report emphasizes that mild B12- responsive MMA can present acutely with severe deteriora- tion and coma in the setting of acute immune and inflammatory scenario such as post-EBV HLH.
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Paviolo, M., Paquay, S., Pichard, S., Imbard, A., Sachs, P., Benoist, J.-F., Schiff, M., & et al. (2015). Secondary haemophagocytic lymphohistiocytosis (HLH) and posterior reversible encephalopathy syndrome (PRES) in a patient with B12-responsive late-onset methylmalonic acidemia. Journal of Inherited Metabolic Disease, 38 (Suppl 1), 156. https://hdl.handle.net/2078.5/68941 (Original work published 2015)