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)

We describe 3 children with a progressive encephalopathy that was characterised by irritability, convulsions, cranial nerve palsies, ataxia, nystagmus, walking difficulties, delayed psychomotor development, hemiplegia/tetraplegia, visual disturbance, vomiting, neck stiffness, and non-specific signs of raised intracranial pressure. A final diagnosis was made in all 3 patients from necropsy material. The clinical features were ascribed to multiple inflammatory, predominantly lymphocytic, reactions and raised intracranial pressure. This condition is an atypical form of haemophagocytic lymphohistiocytosis, which normally presents with fever, hepatosplenomegaly, and cytopenias. By contrast, the disease pattern in our 3 children was dominated by cerebromeningeal involvement, which can precede the typical systemic symptoms of haemophagocytic lymphohistiocytosis. An awareness of this condition is important because treatments are available.
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PMID:Cerebromeningeal haemophagocytic lymphohistiocytosis. 134 23

A 55-year-old man was admitted to our hospital with fever, ascites, generalized lymphadenopathy and hepatosplenomegaly. A cervical lymph node was biopsied and diagnosed as a diffuse mixed cell type B-cell malignant lymphoma with positive cytoplasmic IgM in plasmacytoid lymphocytes and immunoblasts. Serum protein electrophoresis disclosed a monoclonal peak and immuno-electrophoresis identified the abnormal protein as IgM kappa(k). Serum immunoquantitation revealed an IgM level of 1470 mg/dl. Bence-Jones protein of the k type was positive in the urine. Cryoglobulin with the characteristics of IgM was present in the serum. In peripheral blood, hemoglobin was 12.4 g/dl, WBC 26,500/microliters with increased abnormal cells and the platelet count 2.2 x 10(4)/microliters. Low fibrinogen and high FDP levels indicated the existence of disseminated intravascular coagulation (DIC). Gabexate mesilate (FOY) was administered at a dose of 1,000 mg/day for the DIC with very good response. After one course of combination chemotherapy (vincristine, cyclophosphamide, prednisolone, adriamycin), he achieved complete remission. However, three months later, he showed icterus and anorexia again with high levels of serum GOT and GPT and positive HBs antigen. On the 117th hospital day, he became abruptly developed right hemiplegia and coma. Cranial CT demonstrated massive thalamic bleeding in the left hemisphere with ventricular rupture, and he died on the same day.
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PMID:B-cell malignant lymphoma associated with monoclonal macroglobulinemia and cryoglobulinemia. 315 23

This report describes a full-term newborn with massive fetomaternal hemorrhage. Fetal movements were decreased 48 hr prior to delivery. On the day of delivery, they were absent. The nonstress test was abnormal with low biophysical profile and decreased beat-to-beat variability. The infant presented with extreme pallor, hypotonia, hepatosplenomegaly, and ascites. The initial hemoglobin was 2.2 g/dL, the Kleihauer-Betke stain was 27.6% (highest level ever reported). Right temporal and cerebellar hemorrhages were present. Sequelae include severe developmental delay and asymmetric double hemiplegia.
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PMID:Massive fetomaternal hemorrhage. 925 42

Lymphomatoid granulomatosis (LG) is an angiocentric lymphoproliferative disease. It usually involves lung, skin, and central nervous system, but splenomegaly and pancytopenia are the rare manifestations of the disease. We report a 15-year-old boy presented with fever, dry cough and dyspnea from two months ago, after admission patient had nodular lesions on the left leg and hepatosplenomegaly. Then he manifested neurologic signs such as seizure, aphasia and right-sided hemiplegia. Chest X-ray and CT scan revealed bilateral pulmonary nodules predominantly in lower lobes and peripheral lung fields. Laboratory exams showed pancytopenia. Skin biopsy was done, and histopathological examination and immunohistochemistry evaluation confirmed lymphomatoid granulomatosis. He was treated with steroid and cyclophosphamide but succumbed by neurologic involvement.
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PMID:Lymphomatoid granulomatosis with splenomegaly and pancytopenia. 2067 11