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Washington University Experience | MISCELLANEOUS | Familial erythrophagic lymphohistiocytosis | 1A0 Case 1 History
Case 1 History ---- The decedent was a non-HIV 5 month old male infant who was diagnosed with an URI and otitis media presenting with fever, neutropenia, pancytopenia, hypoalbuminemia, coagulopathy, hypofibrinogenemia, and hypertriglyceridemia with a serum ferritin level of 16,555 ng/mL (nl 30-400 ng/mL) and serum soluble IL-2 receptor level of 43,800 pg/mL (nl <1033 pg/mL). With lab values, a bone marrow biopsy and LP led to a diagnosis of HLH with CNS involvement. Molecular genetic testing showed two different mutated alleles of the HLH susceptibility gene MUNC13-4, predictive of familial HLH type 3. A maternal cousin was also diagnosed in infancy with HLH, s/p post bone marrow transplant. Studies also showed absent NK cell function. HLH treatment protocol was initiated but he continued to worsen developing multiple organ system failure. He acutely developed worsening hypotension, desaturation, and bradycardia. Resuscitation efforts were unsuccessful. General autopsy findings in this case included active hemophagocytosis in the liver, spleen, and lymph nodes but not in CNS which showed only a few histiocytes in the subarachnoid space and not in the brain tissue.
