Document Detail

Prolonged neurologic course of familial hemophagocytic lymphohistiocytosis.
MedLine Citation:
PMID:  19664539     Owner:  NLM     Status:  MEDLINE    
Familial hemophagocytic lymphohistiocytosis is a very unusual cause for demyelination and the clinician would do well to be aware of the condition, especially when children present with atypical findings on magnetic resonance imaging associated with fever, pancytopenia, and hepatosplenomegaly. This is a rare autosomal recessive, multisystem inflammatory disorder characterized by widespread organ infiltration by macrophages and activated lymphocytes. It is usually diagnosed in the first 2 years of life and is rapidly fatal if untreated. Reported here is the case of a 12-year-old boy, from a poor family, with a 6-year history of visual loss and fever for 5 months, and transient hemiparesis with hepatosplenomegaly and pancytopenia. Cranial magnetic resonance imaging showed multiple areas of hyperintense signal, predominantly involving white matter. The boy also had elevated triglycerides and ferritin, with low fibrinogen level. Bone marrow aspiration revealed hemophagocytosis. He was diagnosed as having familial hemophagocytic lymphohistiocytosis and treated with the HLH 2004 protocol. A sibling also had evidence of hemophagocytosis. Remission was achieved, but his parents could not afford the cost of hematopoietic stem cell transplantation. He relapsed after 8 months and later died.
Mammen M Puliyel; Winsley Rose; Sharath Kumar; Prabhakar D Moses; Sridhar Gibikote
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Pediatric neurology     Volume:  41     ISSN:  1873-5150     ISO Abbreviation:  Pediatr. Neurol.     Publication Date:  2009 Sep 
Date Detail:
Created Date:  2009-08-11     Completed Date:  2009-10-26     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8508183     Medline TA:  Pediatr Neurol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  207-10     Citation Subset:  IM    
Department of Child Health, Christian Medical College and Hospital, Vellore 632004, Tamil Nadu, India.
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MeSH Terms
Aspartic Acid / analogs & derivatives,  metabolism
Bone Marrow / physiopathology
Brain / metabolism,  pathology
Choline / metabolism
Diagnosis, Differential
Disease Progression
Fatal Outcome
Ferritins / blood
Fibrinogen / metabolism
Lactic Acid / metabolism
Lymphohistiocytosis, Hemophagocytic / diagnosis*,  drug therapy,  physiopathology*
Magnetic Resonance Imaging
Remission Induction
Triglycerides / blood
Reg. No./Substance:
0/Triglycerides; 50-21-5/Lactic Acid; 56-84-8/Aspartic Acid; 62-49-7/Choline; 9001-32-5/Fibrinogen; 9007-73-2/Ferritins; 997-55-7/N-acetylaspartate

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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