Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0019214 (hepatosplenomegaly)
 4,408 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

FEL is an autosomal recessive, lethal disease of early childhood characterized by hepatosplenomegaly, fever, and multisystem lymphohistiocytic infiltrates. The etiology and pathogenesis of this disorder remain uncertain. However, evidence suggests that the disease may be due to an inherited defect in immunoregulation that predisposes to an uncontrolled proliferation of activated histiocytes in response to a stimulus such as viral infection. Although clinical remission can often be achieved with systemic VP-16 and aggressive CNS therapy, the disease usually becomes refractory to treatment with a fatal outcome. Bone marrow transplantation may prove to be an effective treatment for this tragic disease.
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PMID:Familial erythrophagocytic lymphohistiocytosis. 199 22

The clinical course and the postmortal pathological findings in a female newborn showing parental consanguinity are presented. One week afterbirth, the infant developed fever, hepatosplenomegaly and polyserositis. Rapidly progressing immunodeficiency due to pancytopenia led to pneumonia and untreatable respiratory distress with fatal outcome after 2 weeks. Autopsy findings revealed multisystem lymphohistiocytic infiltration with marked erythrophagocytosis. Neuropathological findings included lymphohistiocytic leptomeningitis, perivascular cuffing by lymphohistiocytic infiltrations in the cerebral white matter, predominantly in subependymal location, and multifocal lymphohistiocytic infiltrations of the cerebral grey matter and the cervical spinal cord. Erythrophagocytosis was the histopathological hallmark at all sites. Regarding the fatal clinical course, the medical history of parental consanguinity and the histopathological features, postmortem diagnosis was familial erythrophagocytic lymphohistiocytosis (FEL, Farquhar's disease). The present case is discussed with focus on CNS involvement in FEL by reviewing the relevant literature.
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PMID:Familial erythrophagocytic lymphohistiocytosis (Farquhar's disease): involvement of the central nervous system. 1214 24