| Familial erythrophagocytic lymphohistiocytosis (Farquhar's disease): involvement of the central nervous system. | |
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MedLine Citation:
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PMID: 12143924 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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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Authors:
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M Horn; H J Stutte; W Schlote |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Clinical neuropathology Volume: 21 ISSN: 0722-5091 ISO Abbreviation: Clin. Neuropathol. Publication Date: 2002 Jul-Aug |
Date Detail:
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Created Date: 2002-07-29 Completed Date: 2003-01-07 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 8214420 Medline TA: Clin Neuropathol Country: Germany |
Other Details:
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Languages: eng Pagination: 139-44 Citation Subset: IM |
Affiliation:
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Department of Neuropathology, Institute of Neurology (Edinger-Institute), University of Frankfurt/Main, Germany. markus.horn@klinik.uni-regensburg.de |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Central Nervous System
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pathology*,
physiopathology Female Histiocytosis, Non-Langerhans-Cell / genetics*, pathology*, physiopathology Humans Infant, Newborn Polycythemia / genetics*, pathology*, physiopathology |
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