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Washington University Experience | MISCELLANEOUS | Familial erythrophagic lymphohistiocytosis | 3A0 Case 3 History
Case 3 History ---- A nine year old previously healthy, developmentally normal girl presented with 4 weeks of headaches, irritability and blurred vision. Her headaches were intermittent and severe with blurred vision in her right visual field. In addition, she also described abdominal pain and episodes of emesis. She developed mood swings, fatigue and was not “acting like herself”. Four weeks prior to her current presentation she had an episode of transient right facial droop and numbness. MRI examination at that time showed a multifocal white matter process which was diagnosed as ADEM and the patient received steroid therapy which appeared to help. However, several weeks later she developed the same constellation of findings and was biopsied. The diagnosis was inflammatory demyelinative process consistent with ADEM. Nonetheless, the biopsy had a peculiar histopathologic appearance for ADEM. Despite therapy with glucocorticoids, IVIG and other immunosuppressive agents, her signs and symptoms persisted, and serial MRI examinations documented progressive white matter lesions. When the patient once again developed a similar presentation, she was found to have hepatomegaly and the differential diagnosis was again liberalized with input from hematology. Over the ensuing months, she was found to have biallelic mutations in the PRF1 (perforin 1) gene with markedly reduced perforin expression on NK cells (1%) and CD8+ T-cells (0%), thus establishing the diagnosis of familial HLH type 2. She has received a HLH chemotherapy regimen (etoposide, dexamethasone, IT MTX) and a matched unrelated donor stem cell transplant, so far she is improving.
