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)

Diagnosis of tuberculosis (TB) in children is usually based on presumptions from several elements: clinical picture and course, x-rays, tuberculin test, and culture of pathology later on. TB is usually found in a child because of symptoms of primary disease, or through case-finding of a contact. TB is children is often a primary infection and may be gradual or acute in onset. Some of the symptoms of primary TB are low-grade fever, pallor, fatigue, and anorexia. The child may have erythema nodosum, a yellow module on the conjunctiva, hilar or mediastinal lymphadenopathy, a primary TB complex on the lung (3-10 mm), segmental density, or a positive PPD test. Children with pulmonary disease do not have adult-type cavity lesions, but may have a primary cavity that drains into the bronchi, mechanical complications, fistulas, or atelectasis. Acute TB often appears as meningitis. The pathognomonic signs are cerebrospinal fluid high in lymphocytes with very high albumin (0.6-2 g) and low glucose (0.4-0.2 g/l). TB organisms are rarely seen, but may be cultured. TB meningitis is also notable for choroidal tubercles, which are yellow nodules visible in the fundus. These presumptive signs, as well as increasing neurological findings, prompt immediate treatment. Children also may have acute miliary TB, marked by high fever, gastrointestinal symptoms, hepatosplenomegaly, dyspnea, cyanosis, and respiratory distress, with characteristic diffuse grainy spots on the chest x-ray. A child may have both conditions and may also have localized TB infection elsewhere. Thus, clinical findings may point to possible cultures of urine, gastric lavage, pleural fluid or biopsy, pericardial fluid, bone marrow, or ascitic fluid, any of which should be cultured to rule out other causes. The most common sites for extra-pulmonary TB are cervical nodes, spine, knee. shoulder, hip and peritoneum. Pelvic and urinary tract infections are rare in children.
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PMID:Diagnosis of tuberculosis in children. 1234 39

Leukemic peripheral blood involvement in anaplastic large cell lymphoma (ALCL) is uncommon. We describe 3 children with such manifestations and review the features of 9 pediatric and adult patients previously described in the literature. Leukemic involvement in ALCL may occur at the time of initial diagnosis or develop during the course of disease. It most often is associated with the small cell histologic features and the t(2;5)(p23;q35). Clinical features commonly include significant respiratory distress, diffuse lung infiltrates or pleural effusions, and hepatosplenomegaly. Most cases have an aberrant T-cell immunophenotype with frequent expression of myeloid antigens, most often CD11b or CD13. Ten of the 12 cases reviewed had a poor response to therapy or early relapse. Thus, while anaplastic lymphoma kinase-positive ALCL and young patient age generally are associated with a favorable prognosis, leukemic involvement seems to identify a high-risk malignant neoplasm that requires more aggressive therapy, including hematopoietic stem cell transplantation.
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PMID:ALK-positive anaplastic large cell lymphoma with leukemic peripheral blood involvement is a clinicopathologic entity with an unfavorable prognosis. Report of three cases and review of the literature. 1456 May 73

Malaria continues to be a problem for children returning or immigrating to industrialized countries from tropical regions. Proper diagnosis begins with clinical suspicion. In nonimmune children, malaria typically presents with high fever that might be accompanied by chills and headache. Symptoms and signs may be more subtle in partially immune children, and anemia and hepatosplenomegaly may also be present. Children may present with respiratory distress and/or rapidly progressing cerebral malaria that manifests as altered sensorium and, sometimes, seizures. Thick blood smears help to determine when infection is present, but a single smear without parasites is not sufficient to rule out malaria. Thin blood smears aid in identifying the species of parasite. Treatment must include careful supportive care, and intensive care measures should be available for treating children with complicated Plasmodium falciparum malaria. Medical regimens can include mefloquine, atovaquone-proguanil, sulfadoxine-pyrimethamine, quinine or quinidine, clindamycin, doxycycline, chloroquine, and primaquine.
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PMID:Diagnosis and treatment of malaria in children. 1458 68

A subset of patients with type 2 Gaucher disease is characterized by intrauterine onset of rapidly progressive neuropathic disease, arthrogryposis, hydrops fetalis and in some cases restrictive dermopathy. beta-Glucocerebrosidase (beta-glucosidase) activity is usually low or undetectable. In most cases death ensues either in-utero or within hours or days after birth. We report on an infant born to non-consanguineous parents of Caucasian origin presenting at birth with hydrops, arthrogryposis, severe respiratory distress, hepatosplenomegaly, and liver failure. Death occurred within several hours after delivery and autopsy revealed typical Gaucher cells in multiple organs in combination with severe apoptotic neurodegeneration throughout the brain. beta-Glucocerebrosidase activity was 1% of the norm in fibroblasts and a novel heterozygous insertion c.1515_1516insAGTGAGGGCAAT was identified by genomic sequencing and an insertion-specific seminested PCR. In addition, molecular studies revealed a previously described in type 1 Gaucher disease missense mutation c.476G --> A which results in a heterozygous substitution of R120Q. Our observations confirm considerable genotypic heterogeneity in patients with type 2 Gaucher disease. The transheterozygous combination of a mutation, previously described in type 1 Gaucher disease, together with a newly identified insertion may result in this severe phenotype.
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PMID:Intrauterine onset of acute neuropathic type 2 Gaucher disease: identification of a novel insertion sequence. 1521 4

A 20 day old male infant presented with fever, respiratory distress and poor feeding for 7 days. He was referred from a community hospital and diagnosed as sepsis. Physical examination revealed hepatosplenomegaly. A chest radiograph showed miliary infiltration of both lungs. Smear of gastric washing for AFB was positive. Congenital tuberculosis was diagnosed, the infant was successfully treated with antituberculous drugs and followed up monthly for 1 year. He had good health and normal development after the illness.
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PMID:Congenital tuberculosis presenting as sepsis syndrome. 1522 32

The aim of the present study was to report clinical, radiological and bronchoalveolar lavage (BAL) findings in patients with pulmonary manifestations of HIV-associated multicentric Castleman's disease (MCD). This was a retrospective study of 12 patients with histologically proven MCD. Clinical manifestations were as follows: dyspnoea (nine out of 12 cases), cough (n = 10), bilateral crackles (n = 10), together with high fever, malaise, peripheral lymphadenopathy (n = 12), and hepatosplenomegaly (n = 10). Two patients developed acute respiratory distress syndrome. Chest radiographs and computed tomography scans showed reticular (n = 7) and/or nodular (n = 7) interstitial patterns, with mediastinal lymphadenopathy (n = 9), and bilateral pleural effusion (n = 3). Fibreoptic endoscopy was normal in all cases. BAL analysis showed hypercellularity (n = 6) and/or lymphocytosis (n = 6), and human herpesvirus-8 DNA was detected in two out of two cases. Specific stains and cultures for pathogens were negative. All patients received etoposide and/or vinblastine, and improved after 2-4 days. Relapses were frequent (50 attacks in 12 patients). Six patients developed a non-Hodgkin's lymphoma, and five died. In conclusion, the pulmonary manifestation of HIV-related multicentric Castleman's disease is an acute reticulo-nodular interstitial pneumonitis, associated with severe systemic symptoms and peripheral lymphadenopathy. In bronchoalveolar lavage fluid, cellularity is not specific and human herpesvirus-8 DNA is detected. The clinical course is specific due to a rapid onset and regression, frequent relapses and a high occurrence of non-Hodgkin's lymphoma.
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PMID:Pulmonary manifestations of multicentric Castleman's disease in HIV infection: a clinical, biological and radiological study. 1599 98

Leukoerythroblastosis is a rarely observed disease characterized by the presence of leukocytosis, erythroid and myeloid blast cells in peripheral blood. To our knowledge, it had not been diagnosed in a premature newborn before the case we report have.A female baby weighing 1164 grams, who was born prematurely at the 29th week of gestation by Cesarean section was referred to our newborn intensive care unit due to prematurity and respiratory distress with no prenatal pathological findings. Physical examination revealed tachypnea and hepatosplenomegaly. Routine laboratory measurements showed significant leukocytosis (85,000/mm3) and anemia (Hb: 9.6 g/dL and Hct: 27.6%). The platelet count was normal. The peripheral blood smear suggested leukoerythroblastosis with the presence of nucleated erythrocytes, monocytosis, and 4% blasts. Bone marrow cytogenetic examination was normal. Parvovirus B19 Ig G and M serology were detected to be positive. The etiological factors observed in leukoerythroblastosis occurring during neonatal and early childhood period are congenital-postnatal viral infections, juvenile myelomonocytic leukemia and osteopetrosis. To our knowledge, no case of leukoerythroblastosis in such an early phase has been reported in the in literature. As a result, premature delivery and leukoerythroblastosis were thought to have developed secondary to intrauterine parvovirus B19 infection. Leukoerythroblastosis is a rarely observed disease characterized by the presence of leukocytosis, erythroid and myeloid blast cells in peripheral blood. It is reported that it can be observed following hematologic malignancies especially juvenile myelomonocytic leukemia, acute infections, hemolytic anemia, osteopetrosis, myelofibrosis, neuroblastoma and taking certain medicines. To our knowledge, it has not been diagnosed in a premature newborn before. Here we the case of a newborn who was referred to our intensive care unit due to being born prematurely at the 29th week of gestation and diagnosed with leukoerythroblastosis.
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PMID:Premature labor and leukoerythroblastosis in a newborn with parvovirus B19 infection. 1626 29

A 22 years old female presented with fever, respiratory distress and a rapidly enlarging, soft left postauricular lump for last two months. She was found anaemic, had a right supraclavicular, non-tender lymph node of about 2.5 cm diameter and mild hepatosplenomegaly. She had a positive Mantoux test, and normal chest x-ray. Ultrasonography of abdomen showed multiple pre-and para-aortic enlarged lymph nodes. Mild pericardial effusion was detected on echocardiography. Fine needle aspiration cytology from the right supraclavicular lymph node showed epithelioid cell granuloma. Excision and biopsy of the dermoid were carried out. The content was pus, which was smear-negative but culture-positive for acid-fast bacilli. The patient responded to antituberculous chemotherapy satisfactorily.
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PMID:An unusual presentation of extrapulmonary tuberculosis. 1649 60

A 1-day-old male newborn was born with respiratory distress, low birth weight, hepatosplenomegaly, and bullous targetoid skin lesions over the face, back, buttocks, and extremities. A diagnosis of early congenital syphilis was made based on a treponemal serologic test. Pathologic examination of the skin lesion showed scattered dyskeratotic cells in the epidermis and interface dermatitis consistent with erythema multiforme. No spirochete could be found in the skin sections staining with Warthin-Starry stain. Using nested polymerase chain reaction, treponemal genomic DNA fragments encoding DNA polymerase I were detected.
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PMID:Early congenital syphilis and erythema multiforme-like bullous targetoid lesions in a 1-day-old newborn: detection of Treponema pallidum genomic DNA from the targetoid plaque using nested polymerase chain reaction. 1684 16

Sarcoidosis is a granulomatous disease of unknown etiology and is only rarely seen in infants and children. We present the case of a 9-year-old boy who developed sarcoidosis with multi-organ involvement 9 years after cardiac transplantation for Shone complex. The patient was on immunosuppressive therapy with tacrolimus and mycophenolate mofetil. He presented with severe respiratory distress due to marked mediastinal lymphadenopathy and bilateral pulmonary infiltrates in association with fatigue, low-grade fever, hepatosplenomegaly and generalized lymphadenopathy. Lymph node histology showed non-caseating epitheloid cell granulomas and giant cells. Initialization of therapy with prednisolone resulted in prompt clinical recovery and resolution of all symptoms except for the development of mild pulmonary fibrosis. Tapering of the steroids led to recurrence of mediastinal lymphadenopathy 5 months after the initial disease, which responded to an increase in steroid dose. The clinical course, the medical management, and the possible role of immunosuppression in the etiology of the disease are discussed.
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PMID:Systemic sarcoidosis after cardiac transplantation in a 9-year-old child. 1704 40


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