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

An 8-month-old male infant with severe anemia and thrombocytopenia was brought to our hospital due to fever and pallor. The physical examination on admission showed pale conjunctivae, skin rash, lymphadenopathy and hepatosplenomegaly. Subsequent laboratory studies showed pancytopenia, impaired liver function, elevated lactate dehydrogenase level but without evidence of disseminated intravascular coagulation. Bone marrow aspiration demonstrated increased macrophages and prominent hemophagocytosis. The serological studies revealed a recent infection of human herpesvirus-6 which was confirmed by blood mononuclear cell culture and polymerase chain reaction. This infant was also found to have beta-thalassemia which was confirmed by hemoglobin electrophoresis performed before first transfusion. After treatment with intravenous immunoglobulin and other supportive therapies, the bone marrow abnormalities has completely recovered after 5 days, and the hemogram improved. This report demonstrates the human herpesvirus-6 as the etiology of hemophagocytic syndrome.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi
PMID:Human herpesvirus-6 associated hemophagocytic syndrome in beta-thalassemia: report of one case. 860 65

A 14-year-old boy came to the neurological clinic because of involuntary movement. He represented a case of common variable hypogammaglobulinemia, with hepatosplenomegaly noted for 5 years and jaundice for 1 month. Neurological and laboratory examinations revealed choreoathetosis and hyperbilirubinemia, hypoalbuminemia, increased hepatic aminotransferase, and decreased indocyanine green clearance; as well as increased signal change over the globus pallidus, subthalamic area, internal capsule, tegmentum, brain stem and pituitary gland revealed by a brain magnetic resonance (T1-weighted) imaging study. A manganese study confirmed high body manganese loading. Trihexyphenidyl administration ameliorated the dyskinesia; however, the patient died from hepatic failure later. Though rare in incidence, manganese intoxication should be considered in cases with dyskinesia and the characteristic brain MRI findings. Even if no environmental exposure is involved, total parenteral nutrition, porto-systemic shunt and chronic hepatic dysfunction could lead to a heavy manganese load resulting in symptomatic manifestation.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi
PMID:Dyskinesia from manganism in a hepatic dysfunction patient. 893 14

Two children with acute lymphoblastic leukemia presenting with cellulitis and sepsis are described. Both presented as having hemophagocytic syndrome with the manifestations of prolonged fever, jaundice, pancytopenia, coagulopathy and histiocytic proliferation with hemophagocytosis in their bone marrows. It is similar to the virus-associated hemophagocytic syndrome (VAHS), except for the absences of lymphadenopathy, skin rash and hepatosplenomegaly. Concomitant virus infections were excluded in these two cases. Both patients' conditions improved after appropriate antibiotics and intravenous immunoglobulin therapy. The prognosis seemed better in bacteria-associated hemophagocytic syndrome (BAHS) than in VAHS even in immunocompromised patients.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi
PMID:Bacteria-associated hemophagocytic syndrome in childhood acute lymphoblastic leukemia: report of two cases. 907 88

Chorioangioma is the most common tumor of the placenta. However, a large one complicated with hydrops fetalis is rare. We report a patient who had hydrops fetalis associated with placental chorioangioma. The clinical manifestations included generalized edema, coagulopathy, thrombocytopenia, anemia, hypoproteinemia and hepatosplenomegaly. The hospital course was complicated with acute renal failure and repeated pneumonia. The patient died on the 54th day of life due to persistent lung atelectasis and hypovolemic shock. The pathophysiology and management of the complications of hydrops fetalis with chorioangioma are discussed.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi
PMID:Hydrops fetalis due to placental chorioangioma: report of one case. 915 71


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