Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019621 (Langerhans cell histiocytosis)
 3,250 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This is the report of a female infant ten weeks of age, who was admitted to our hospital with hyperpyrexia, hemolytic anemia and disseminated intravascular coagulation. The further course of the disease was characterized by: continuing hemolysis resulting in severe normochromic, normocytic anemia, unrelenting disseminated intravascular coagulation, increasing hepato-splenomegaly with hyperbilirubinemia and ascites. No causative infectious organism could be identified. The infant died at the age of 14 weeks from respiratory insufficiency. Autopsy revealed massive hepato-splenomegaly, ascites and bilateral pneumonia. Histologic evaluation demonstrated lymphohistiocytic infiltrates of the periportal areas of the liver, the spleen and lymphnodes. Meninges were infiltered by macrophages with ingested erythrocytes. Differential diagnosis includes an infection with leptospira icterohemorrhagica (Weils disease) and erythrophagocytosis observed after various viral infections. Also histiocytosis X or malignant histiocytosis has to be taken into consideration. The most probable diagnosis in our patient is that of familiar hemophagocytic reticulosis although the familiarity in our patient was lacking. Intra vitam diagnosis can only be established by liver biopsy which could not be performed in our patient due to the severe coagulation disturbance.
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PMID:[Familial hemophagocytic lymphohistiocytosis (case report)]. 358 93

Protein-losing enteropathy (PLE) is frequently complicated in patients with gastrointestinal tract-involved Langerhans cell histiocytosis (LCH); however, LCH per se is not generally included in the list of diseases that cause PLE. We report here a case of infantile PLE that presented with continuous diarrhea at the onset of LCH. She was initially diagnosed as having allergic gastroenteropathy and, thus, received intravenous prednisolone, which was thought to have induced immunodeficiency and consequently resulted in life-threatening cytomegalovirus-associated hemophagocytic syndrome and disseminated intravascular coagulation. Because chemotherapy for hemophagocytic syndrome was transiently effective for underlying LCH as well, the diagnosis of LCH was delayed until its recurrence. Gastrointestinal tract-involved LCH, a rare but highly fatal disease, should be considered for infants with refractory gastrointestinal symptoms, especially for those with PLE; endoscopic biopsy is strongly recommended for immediate diagnosis.
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PMID:Protein-losing enteropathy caused by gastrointestinal tract-involved Langerhans cell histiocytosis. 2008 19