Hemophagocytic lymphohistiocytosis complicated by central nervous system lesions in a patient with dermatomyositis: a case presentation and literature review

Abstract

We report a case of dermatomyositis (DM) and hemophagocytic lymphohistiocytosis (HLH) complicated by central nervous system (CNS) lesions and review eight literature cases of DM and HLH. A 17-year-old woman, admitted to our hospital because of severe muscle weakness and high fever, was diagnosed with DM based on elevated serum levels of muscle enzymes and a typical skin rash. Pancytopenia, high serum ferritin and soluble interleukin (IL)-2 receptor, and hepatosplenomegaly were also noted. Bone-marrow examination was negative for hemophagocytosis. Steroid therapy combined with immunoglobulin i.v. was ineffective against the DM, pancytopenia, hepatic dysfunction, and hyperferritinemia. On the 27th hospital day, seizures and acute respiratory failure occurred. In the course of improving muscle enzyme levels after starting adjunctive treatment with cyclosporine, the patient suffered disturbed consciousness, dyskinesia, and tremor. Brain magnetic resonance imaging (MRI) revealed T2 hyperintense lesions in the pons. Additional cyclophosphamide pulse therapy successfully decreased serum ferritin. Unfortunately, the diffuse alveolar damage (DAD) confirmed by biopsy progressed and the patient died. Autopsy findings revealed DAD throughout both lungs, HLH liver lesions, and a hemorrhagic necrotic lesion of the pons in the brain. Even when pathological examination yields no findings of hemophagocytosis, it is important to comprehensively and rapidly diagnose HLH based on the clinical picture. Because DM complicated by HLH may be associated with abnormal production of cytokines and systemic autoimmune responses, it may be necessary to immediately administer additional immunosuppressive therapy. We describe and discuss the extraordinary, severe form of DM in our patient, along with cases in the literature.

Central nervous system imaging findings of hemophagocytic syndrome

“…The brain MRI findings in our patient align with those previously reported in the literature, although only two adult cases with CNS involvement have been described to our knowledge [8,10].…”

MDA5-positive dermatomyositis: an uncommon entity in Europe with variable clinical presentations

“…In autoimmunity, hemophagocytic-like syndromes or macrophage activation syndromes (MAS) can occur in lupus erythematosus, systemic onset of juvenile arthritis, catastrophic anti-phospholipid syndrome and adult onset Still’s disease [ 38 ]. MAS have been rarely described in the setting of DM, both classic and amyopathic one and are characterized by a septic-like spectrum with high fever, hepato-splenomegaly, lymphoadenopathies, cytopenias and increased levels of transaminases [ 39 , 40 ]. In the Japanese series of CADM patients with circulating anti-MDA5 antibodies, hyperferritinemia was associated with severe ILD and fatal outcome with an estimated cut-off as predictor of death >1500 ng/ml [ 31 , 41 ].…”

Fulminant systemic capillary leak syndrome due to C1 inhibitor deficiency complicating acute dermatomyositis: a case report

“…However, the fact that the patient had experienced three similar episodes with hemoconcentration (but no shock symptoms) before, the presence of low inflammatory parameters (C-reactive protein, 2.3mg/dL; leukocytes, 14G/L), absence of a clinically obvious infectious focus and no potential allergen exposition made sepsis and anaphylaxis extremely improbable causes of shock in our patient. Hemophagocytic lymphohistiocytosis has been reported as a cause for multiple organ failure in acute dermatomyositis [8]. Although we did not determine serum ferritin or perform a bone marrow puncture in our patient, the absence of bi-/pancytopenia, elevated liver enzymes or triglyceride levels makes hemophagocytic lymphohistiocytosis improbable.…”