Treatment of recurrent CNS disease post‐bone marrow transplant in familial HLH

Abstract

CNS involvement in Hemophagocytic Lymphohistiocytosis (HLH) has been reported in 63-73% of children at diagnosis [Haddad et al. (1997); Blood 89: 794-800; Horne et al. (2008); Br J Haematol 140: 327-335]. Patients can present with neurologic symptoms, abnormal CSF cytology, abnormal neuro-imaging, or a combination of these findings. CNS involvement is usually associated with a poor prognosis and increased mortality. The 3 year overall survival is 44% in patients with CNS involvement compared to 67% in patients without CNS involvement at diagnosis [Horne et al. (2008); Br J Haematol 140: 327-335]. We describe a treatment strategy employing systemic dexamethasone to control CNS disease in a patient with familial HLH and persistent CNS disease post Bone Marrow Transplant.

Successful treatment of recurrent CNS disease post‐bone marrow transplant in children with familial hemophagocytic lymphohistiocytosis

“…We previously reported a patient treated at our institution with systemic dexamethasone for CNS relapse post-BMT for HLH. 10 We now describe five patients, including the previously reported one, who received frequent CSF monitoring by lumbar punctures (LPs) and systemic dexamethasone to control CNS disease pre-and post-BMT for HLH.…”

Allogeneic hematopoietic stem cell transplantation is associated with cure and durable remission of late‐onset primary isolated central nervous system hemophagocytic lymphohistiocytosis

“…Primary HLH is an inherited syndrome with genetic cause usually affecting infants and young children . While CNS involvement is common (as high as 73% at diagnosis and can present as meningitis, seizures, ataxia, spastic paresis, and fatal encephalitis), primary isolated CNS disease is exceedingly rare with only a few cases reported in the literature and typically associated with significant morbidity and mortality . HSCT is the only cure reported to date for patients with systemic manifestations of primary HLH.…”