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)

A 2-month-old girl presented with enlarged head girth, generalized petechiae, anemia, coagulopathy and hepatosplenomegaly. Imaging studies showed a huge, dumbbell-shaped intracranial hemangioma located between the falx, and involving the supra- and infra-tentorium, extending through the posterior fontanel to involve the subgaleal area. A urine culture grew cytomegalovirus. Severe thrombocytopenia was refractory to a massive platelet transfusion, intravenous immunoglobulin and corticosteroid therapy. Hypertension, pulmonary hemorrhage and sepsis complicated the course. After establishing a diagnosis of Kasabach-Merritt syndrome, subcutaneous injections of alpha-interferon were given with an initial dose of 1 x 10(6) IU/m2 followed by 3 x 10(6) IU/m2 per day for 12.5 mo. Her platelet count rose gradually and became stable after 1.5 mo of interferon treatment. The intracranial hemangioma regressed remarkably and the hepatosplenomegaly was also resolved. The infant showed good growth and development, without obvious side-effects during the 23-month follow-up period. The treatment with recombinant alpha-interferon appeared to be effective in reversing thrombocytopenia associated with the patient's massive intracranial hemangioma.
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PMID:Recombinant alpha-interferon treatment of intracranial hemangioma and Kasabach-Merritt syndrome in an infant with cytomegalovirus. 761 60

POEMS syndrome (polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, skin disorders) is a rare multisystemic disease associated with plasma cell dyscrasia. A 68-year-old woman with chronic renal insufficiency and arterial hypertension included in her medical history was admitted to the hospital with confusion, somnolence and asthenia. She presented ascites, hepatosplenomegaly, leg oedema, distal dysesthesias, leuconychia and multiple nodular purple red angiomas on the trunk, upper limbs and fingers. Hypothyroidism was revealed in the laboratory investigations and monoclonal IgG peak in immunoelectrophoresis. Electromyography showed both demyelinisating and axonal degenerative neuropathy. The diagnosis of POEMS syndrome was based on the dermatopathological examination of a cutaneous angioma; histology revealed features of glomeruloid angioma, a specific marker of this syndrome.
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PMID:POEMS syndrome revealed by multiple glomeruloid angiomas. 1207 35

Littoral cell angioma (LCA) is a rare benign vascular tumor of the spleen with characteristic histomorphologic features. Only a few descriptions of the radiologic appearance of this tumor have been published, and those descriptions are variable. We report a case of LCA in a 37-year-old man with psoriasis and nonspecific symptoms of weakness, pain and fatigue, normocytic anemia, and thrombocytopenia. The results of abdominal sonography and contrast-enhanced CT correlated: the 2 modalities revealed hepatosplenomegaly and multiple round splenic lesions of similar appearance and size (on sonograms, ill-defined echogenic lesions up to 3.2 cm without acoustic enhancement; on CT scans, hypodense, nonenhancing lesions up to 3.5 cm). Because making a differential diagnosis was difficult and our presumptive diagnosis was hemangioma or lymphoma, splenectomy was performed. Postoperative pathologic examinations confirmed a final diagnosis of LCA. The patient's recovery was uneventful. LCA should be considered when making a differential diagnosis of splenic lesions, and sonography may be more helpful than CT in reaching a diagnosis of LCA.
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PMID:Littoral cell angioma of the spleen: appearance on sonography and CT. 1224 42

A 57-year-old woman suffering from pleural and pericardial effusion, pulmonary hypertention, lymphadenopathy, hepatosplenomegaly, edema, hypertrichosis, small hemangioma and polyneuropathy was diagnosed as Crow-Fukase syndrome. Osteoctomy of the left second rib and irradiation of this rib and the left iliac bone were performed. Serum vascular endothelial growth factor (VEGF) level decreased to less than one-half the level before the operation (from 5,180 to 2,150 pg/ml). Immediately after the operation, pleural and pericardial effusions due to hyperpenetration improved, and polyneuropathy and hypertrichosis due to hypervasularity also gradually improved. The resected lesion was histopathologically found to be of a plasmacytoma of the IgG lambda type. Since the level of VEGF in the tissue specimen was much lower (116 pg/ml) than that in the serum, VEGF could not have been produced by the plasmacytoma.
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PMID:[A case of Crow-Fukase syndrome showing improvement following excision and irradiation of bone lesions]. 1529 61

Zimmermann-Laband syndrome (ZLS) is an autosomal dominant disorder characterized by gingival fibromatosis, absent or dysplastic distal phalanges, vertebral defects, hepatosplenomegaly, hypertrichosis and sometimes mental retardation. We describe two unrelated patients, a girl aged 9 years and a boy 11 months whose clinical and radiological findings permit us to diagnose the ZLS. Body overgrowth, present in both patients, was identified as a main clinical feature not previously reported as well as the presence in neuroimaging studies of a cavernous hemangioma on the frontal and the left cerebellar regions in the boy. The girl also presented important radiological characteristics such as broad medulary canals and metaphyses of long bones, thin cortices, broad ribs, accelerated skeletal maturation as well as high intelligence level. A wide clinical spectrum in ZLS is also considered.
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PMID:Zimmermann-Laband syndrome: further clinical delineation. 1626 93

Diffuse neonatal hemangiomatosis (DNH) is a rare neonatal condition in which cutaneous and visceral hemangiomas coexist. If left untreated, DNH is usually fatal at an early age. We report a case of a 6-month-old male infant who was brought to our institution with hepatosplenomegaly and a history of anemia and thrombocytopenia since 1 month of age. Cytogenetic analysis and liver biopsy were normal and bone marrow aspirate was nondiagnostic. Congenital red blood cell abnormality was ruled out. Ultrasound confirmed an increase in size of the spleen from 5 to 15 cm, and magnetic resonance imaging demonstrated intense splenic enhancement consistent with a hemangioma or vascular malformation. Despite severe thrombocytopenia, an exploratory laparotomy was done and the patient underwent a splenectomy and omentectomy. The final pathology confirmed hemangiomatosis of the spleen and omentum. In the neonate with unexplained anemia and thrombocytopenia, DNH should be considered as part of the differential diagnosis. In our case, the patient not only exhibited no obvious cutaneous involvement, but also had rare splenic involvement. Although there are risks involved when operating on a thrombocytopenic patient, the benefits of operating on a patient with DNH far outweigh the risks, and operative intervention should proceed without delay.
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PMID:A rare case of diffuse neonatal hemangimatosis. 1667 65

Glomeruloid hemangioma is characterized by coiled capillary vessels contained within enlarged vascular spaces displaying an architecture that resembles renal glomeruli. The condition is strongly associated with POEMS syndrome (Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal gammopathy and Skin changes). The present paper reports on two cases of glomeruloid hemangiomas associated with POEMS syndrome, and includes a review of the literature. Case one refers to a 63-year old female patient admitted to hospital with ascites, hepatosplenomegaly, walking difficulties and cutaneous hemangiomas. Histopathology revealed a diagnosis of glomeruloid hemangioma and served to guide the clinical work-up, which revealed sensorimotor polyneuropathy, a plasmacytoma in the L4 vertebra with tumor cells positive for kappa chain, and diabetes mellitus. These findings permitted a diagnosis of POEMS syndrome to be reached. The second case consisted of a 39-year old woman admitted to hospital with edema, ascites, pleural effusion, glomeruloid hemangiomas and lymphadenopathy (Castleman's disease). Additional findings included monoclonal IgG-lambda paraproteinemia, blastic lesions in the right iliac bone and L4 vertebra, and demyelinating sensorimotor neuropathy affecting all four limbs. The final diagnosis in this case was POEMS syndrome associated with Castleman's disease.
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PMID:Glomeruloid hemangioma in POEMS syndrome: a report on two cases and a review of the literature. 2228 6

Infantile hemangioma is a benign vascular neoplasm that spontaneously involutes over time. Management, when needed, consists of medications, laser treatment and surgical excision. We describe a 3-year-old girl who presented shortly after birth with diffuse cutaneous hemangiomas, hepatosplenomegaly with liver lesions, anemia, and acute heart failure. She was diagnosed with hepatic and cutaneous infantile hemangioma based on skin biopsy. She developed progressive pulmonary hypertension with numerous pulmonary nodules suspicious for pulmonary arteriovenous malformations. She was started on sirolimus and had significant improvement in her pulmonary hypertension and liver lesions. This report supports prior studies that sirolimus is effective for vascular anomalies including IH refractory to conventional therapy.
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PMID:Treatment of Refractory Infantile Hemangiomas and Pulmonary Hypertension With Sirolimus in a Pediatric Patient. 2885 30