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

A 21-year-old man presented with a 10-year history of a malabsorption syndrome of moderate severity, splenomegaly, and recurrent respiratory infections. Investigations revealed total atrophy of the villi and primary agammaglobulinemia. A gluten-free diet was ineffective. In spite of the absence of lambliasis, treatment with metronidazole produced objective clinical improvement and biological signs of healing of the malabsorption syndrome, but no alteration in the agammaglobulinemia. The authors discuss the relationship between total villous atrophy and primary agammaglobulinemias and the mode of action of metronidazole.
 ...
PMID:[Total atrophy of the villi during primary agammaglobulinemia in adults. Therapeutic problems (author's transl)]. 53 85

A 21-yr-old man presented with inguinal lymphadenopathy and splenomegaly. The peripheral blood showed a high blast cell count. The morphological and immunologic features of the blast cells were consistent with the diagnosis of common acute lymphoblastic leukemia (ALL) with 15% pre-B-cells. Banded karyotype analysis of the blood and the marrow cells, using the technique of methotrexate synchronization, revealed the presence of (8;14) and (14;18) chromosome translocations, a finding that has not been previously documented. The significance of these findings is discussed.
 ...
PMID:Common ALL with pre-B-cell features showing (8;14) and (14;18) chromosome translocations. 660 67

A 21-month-old boy presented with a papular rash, lymphoadenopathy, and splenomegaly. He developed symmetric polyarthritis, fever, and progressive glomerulonephritis. Serologies for viral agents including HIV were negative. Antinuclear antibody was transiently positive, but no anti-DNA antibodies were present. CH50 and serum C3 values were low. Biopsies of skin, kidney, bone marrow, and lymph node were obtained. There was a perivascular and periadnexal lymphocytic infiltrate in the skin, with a normal epidermis. Renal biopsy showed proliferative mesangial glomerulonephritis. Bone marrow showed an increased number of plasma cells. Lymph node showed histologic changes described in multicentric Castleman's disease including marked follicular hyperplasia, vascular proliferation, and interfollicular expansion with numerous plasma cells. IL-6 mRNA was demonstrated in cells in the marginal zone and interfollicular regions of the node by in situ hybridization. Likewise, the serum IL-6 level was elevated during a clinical exacerbation of the patient's nephritis. These data suggest an underlying lymphoproliferative disorder, such as Castleman's disease, with overproduction of IL-6 resulting in systemic features of the disease, including glomerulonephritis.
 ...
PMID:Increased interleukin-6 (IL-6) production in a young child with clinical and pathologic features of multicentric Castleman's disease. 788 66

Splenic parasitic cysts due to flat worm Echinococci resulting in hydatid disease are a rare presentation as primary site even in the endemic regions. Primary splenic parasitic cysts have an incidence of 0.5-4%. A 21-year-old male with pet dogs at home, presented with 3 months history of gradually increasing discomfort in the left hypochondrium and tender splenomegaly. He had marked eosinophilia with normal liver function tests and positive serum IgM Echinococcus antibodies. Ultrasonography showed a cyst in the hilar region of spleen having septations with internal echos. An upper midline laparotomy was performed and a perisplenic cyst was removed along with spleen from the sub-diaphragmatic location. Histopathological examination confirmed acellular fibrous wall of hydatid cyst with germinal layer and scolices in the centre. Postoperatively, patient was continued on oral Albendazole for one month.
 ...
PMID:Primary perisplenic hydatid cyst. 1948 79

A 21-year-old mole was admitted because of fever, fatigue, headache, pharyngitis, abdominal pain, loss of appetite, vomiting and dark urine for three days. The patient denied recent use of medicines or any other drug. His physical examination disclosed jaundice, hepato-splenomegaly, whitish-yellow covered tonsils, bilateral anterior and posterior cervical lymph node enlargement associated with edema on the face and neck. Routine blood tests detected abnormalities in serum bilirubins and liver enzymes (total bilirubin: 14.5 mg/dl, direct-reacting bilirubin: 12.9 mg/dl, AST: 697 U/l, ALT: 619 U/l, alkaline phosphatases: 260 U/l, and GGT: 413 U/l). Serological tests showed negative results for viral hepatitis, cytomegalovirus, HIV-1 and HIV-2, and toxoplasmosis markers, while serology for recent infection by EBV was positive (IgM: 70 and 29 U/ml; EBV IgG: 25 and 156 U/ml). Although infrequently, EBV infection can cause acute hepatitis with accentuated cholestatic jaundice (5% of cases), which may constitute an additional diagnostic challenge for primary care physicians. The patient improved with supportive management and was discharged after 12 days. This case study might contribute to increase the suspicion index about acute hepatitis related to EBV.
...
PMID:[Acute hepatitis due to infectious mononucleosis in a 21-year-old-man]. 2435 41

Sclerosing angiomatoid nodular transformation (SANT) is a rare benign primary vascular lesion of the spleen. Its etiology is still debated. Radiological characteristics are less known, although there are some reports regarding histopathological features ofSANT. A 21-year-old male patient was admitted to our hospital with fatigue, weight loss, and abdominal pain for 4 months. Physical examination, complete blood count, andbiochemical parameters were unremarkable. Dynamic contrast-enhanced computed tomography (CT) of the abdomen was performed. A heterogeneous well-defined hyperdense nodular lesion 3 cm in diameter was detected during the arterial phase. The detected lesion was seen as isodense with the spleen parenchyma during the portal venous and late venous phases. Magnetic resonance imaging (MRI) showed an isointense-hypointense nodular lesion on T1- and T2-weighted images. Intraabdominal LAM or splenomegaly was not detected. Microscopically, it was composed of angiomatoid nodules separated by central stellate fibrous stroma and fibrous septa. The contrast enhancement pattern was described as centrally hypovascular, radially progressive centripetal vascular contrast enhancement, called a spoke-wheel pattern in previously reported cases. We present CT and MRI findings and their correlation with histopathological findings of a case of unusual symptomatic SANT.
 ...
PMID:An unusual case of sclerosing angiomatoid nodular transformation: radiological and histopathological analyses. 2555 62

Gaucher disease is a metabolic storage disorder caused by a mutation in the lysosomal enzyme B-glucocerebrosidase. This disease is usually manifested in new born infants, however, an exceptional case of this disease in adult has been recently reported. A 21-year-old Caucasian patient was diagnosed with Gaucher disease, demonstrating Virchow's lymphatic node enlargement and mild splenomegaly. A familial link to this disease was also found. Macrophage infiltration was observed in the aff ected Virchow's lymph node which is not a classic sign of Gaucher disease. DNA analysis and a whole blood count also suggested a manifestation of this disease. In summary, this is the first study to report such case of Gaucher disease in an adult female patient, which may suggest an asymptomatic characteristic of this condition and an importance of the presence of Gaucher cells in the enlarged Virchow's lymph node.
 ...
PMID:Gaucher Disease Involving Virchow's Lymph Node: a Case Report. 3118 68