Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038002 (splenomegaly)
 9,873 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Gaucher's disease is a rare metabolic disorder in which there is an abnormal accumulation of cerebrosides in the reticuloendothelial system due to a deficit of beta-glucuronidase. Three patients with this disease, 8, 14, and 23 years old, were studied. The purpose of this paper is to point out some of the roentgenologic findings, such as areas of femoral osteolysis, renal venous thrombosis, and in one patient, sclerosis of the sacroiliac joint. Splenomegaly and alteration of the tubular bony structure of the distal end of the femur were present in all three cases. The roentgenologic images of the disease are discussed. The osteoarticular system is the most often affected. Osteolysis is the basic lesion with expansion of the bone marrow and sclerosis. The earliest symptom and sometimes the only one is the Erlenmeyer flask deformity or widening of the distal portion of the femur. Sometimes there is a high degree of deossification without definite osteolytic lesions. Pathologic fractures and fractures caused by pressure of the vertebral bodies are common. Aseptic femoral necrosis are often present. Other less frequent sites of osteoarticular pathology are the skull, jaws, ribs, and sacroiliac joints. Splenomegaly is the most frequent visceral lesion. Other organs sometimes affected are the liver, kidneys, heart, lymphatic system, and lungs, with nodular or basal reticular infiltrations.
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PMID:[Roentgenologic characteristics of Gaucher's disease (author's transl)]. 45 98

We describe the case of a 32-year old male patient who presented with a pathological fracture of his right humerus, splenomegaly and thrombocytopenia, the typical symptoms of Gaucher's disease, a lysosomal storage disease. Diagnosis was confirmed by bone marrow biopsy (detection of lipid engorged macrophages - Gaucher cells), by a markedly diminished activity of acid, beta-Glucosidase and by showing two different mutations (764T/A, 1187G/A) in the gene encoding acid beta-Glucosidase. The first mutation causes an amino-acid substitution (phenylalanine to tyrosine). The second mutation causes a premature termination at amino-acid position 396. Enzyme replacement therapy was started with 60 Units/kg body weight, because of severe bone symptoms. Following the decrease in spleen size and increase in platelet count the dose was gradually tapered to 20 U/kg. After two years of enzyme replacement therapy platelet count and spleen volume have normalized and the bone lesions have almost disappeared.
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PMID:[A 32-year old male patient with pathological humeral fracture, splenomegaly and thrombocytopenia]. 1515 Nov 39

POEMS (peripheral neuropathy, organomegaly, endocrinopathy, M protein, skin changes) syndrome is a rare multisystem paraneoplastic disorder. A 40-year-old male with a history of peripheral neuropathy and erectile dysfunction presented with a pathological fracture of the neck of the femur, found to be a solitary plasmacytoma. Additional unusual features included splenomegaly, hyperprolactinaemia and skin changes. The patient had a total hip replacement at a specialist orthopaedic hospital and is due to undergo radiotherapy to the femoral lesion and autologous stem cell transplantation.
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PMID:POEMS syndrome - a unique presentation of a rare paraneoplastic syndrome. 2279 12