Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0019209 (hepatomegaly)
 5,798 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 7-month-old infant presented at a tertiary centre with a 6-day history of a skin rash, fever and diarrhoea. Clinical features included pyrexia, kwashiorkor, extensive ulcerating skin lesions suggestive of ecthyma gangrenosum, hepatomegaly, meningismus, neutropenia and iron deficiency anaemia. Blood and skin aspirate cultures yielded a positive growth of Pseudomonas aeruginosa. Apart from severe protein energy malnutrition, no other causes of immunodeficiency were found. He responded well to parenteral antibiotic therapy with gentamicin and piperacillin.
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PMID:Community-acquired Pseudomonas aeruginosa infection in an infant. 889 49

A retrospective study was undertaken of 33 children with visceral leishmaniasis admitted to Sultan Qaboos University Hospital (SQUH), Oman between 1993 and 1999. The aim was to study the epidemiological and clinical characteristics of visceral leishmaniasis in children in Oman. All presented with fever, anaemia and splenomegaly. Hepatomegaly and lymphadenopathy were present in 88% and 39% of children, respectively. All had iron deficiency anaemia. Hypertriglyceridaemia is a new observation. Diagnosis in all cases was confirmed by histological demonstration of Leishmania amastigotes in bone marrrow (32 subjects) or splenic aspirate (one subject). All children were treated with sodium stibogluconate, 14 needed blood transfusion or blood products and all but two responded well. There were two deaths from associated complications (6% mortality).
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PMID:Visceral leishmaniasis in Omani children: a review. 1147 Dec 61

In Castleman disease, also known as giant lymph node hyperplasia, lesions are usually located in the chest. Peliosis hepatis is the presence of multiple blood-filled cysts in the liver. The combination of these two disorders in one patient is rare, with only three cases reported to date. We report the case of a 21-year-old man who presented with growth retardation and iron deficiency anemia. Work-up revealed hepatomegaly and multiple conglomerated giant lymph nodes near the splenic hilum. Once the mass was surgically removed, the patient's anemia rapidly resolved and he showed catch-up growth. The lymphoid tissue exhibited mixed histologic type, so the patient was diagnosed with both hyaline vascular type and plasma cell type Castleman disease. A liver biopsy obtained at surgery showed sinusoidal dilatation and blood-filled cysts, indicating peliosis hepatis. This is the fourth documented case of peliosis hepatis associated with Castleman disease. In addition to describing the case features, we discuss the possible pathogenesis of peliosis hepatis in the setting of Castleman disease.
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PMID:Abdominal Castleman disease with mixed histopathology in a patient with iron deficiency anemia, growth retardation and peliosis hepatis. 1641 67

Gaucher's disease is a rare lipid storage disorder, affecting one in 40,000-200,000 people and results from a genetic deficiency of the enzyme glucocerebrosidase (glucosylceramidase). We report a 10-year old Iranian girl with chief complaint of anemia from 8 years ago, managed for iron deficiency anemia. The patient had hepatomegaly associated with huge splenomegaly which was confirmed by sonography. No skeletal disorder was found. Bone marrow aspiration revealed typical Gaucher cells. Low level of beta-glucocerebrosidase enzyme activity confirmed the Gaucher disease. The patient is now under treatment with CEREZIME, a recombinant DNA modified form of glucocerebrosidase with good condition.
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PMID:Gaucher disease: A 10 year old girl with anemia and huge spelenomegaly (a case report). 1881 Sep 81

29-year-old Hispanic woman presented to the clinic with complaints of abdominal pain, nausea, fatigue, and constipation. Laboratory tests indicated the presence of iron deficiency anemia and transaminitis. Imaging evaluation revealed marked hepatomegaly with multiple hepatic metastases and pelvic lymphadenopathy. Biopsy of the hepatic lesions showed adenocarcinoma positive for pan-cytokeratin, CMA5.2, villin, and CDX2. She was positive for tumor markers CA 19-9, CA-125, and CEA. Upon further evaluation, she was found to have colorectal cancer positive for KRAS and BRAF mutations. Unfortunately, her disease progressed rapidly and she expired within 3 months from the time of her first diagnosis. KRAS and BRAF mutations are rare enough to be considered virtually mutually exclusive but coexistent mutations appear to be a distinct molecular and clinical subset with aggressive course of illness, which is in dire need of new treatment strategies. Panitumumab and Cetuximab are approved for patients with wild type KRAS CRC. Vemurafenib is a potent inhibitor of the kinase domain in mutant BRAF and its use in BRAF mutated colon cancer remains to be well established. Our report highlights the need to obtain tissue samples from these patients for analysis and to evaluate the benefit of Vemurafenib in colorectal cancers.
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PMID:Are All Mutations the Same? A Rare Case Report of Coexisting Mutually Exclusive KRAS and BRAF Mutations in a Patient with Metastatic Colon Adenocarcinoma. 2881 46