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

The aim of this study was to describe the MRI features of veno-occlusive disease (VOD) following bone-marrow transplantation in two patients. The MRI features consisted of hepatomegaly, hepatic vein narrowing, periportal cuffing, gallbladder wall thickening, marked hyperintensity of the gallbladder wall on T2-weighted images, ascites, and pleural effusion. In one patient, signs of reduced portal venous flow velocity were also observed. It is concluded that the use of MRI as a complementary technique following non-conclusive US examination enabled a timely diagnosis of this life-threatening disease in both patients.
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PMID:MR imaging findings in two patients with hepatic veno-occlusive disease following bone marrow transplantation. 1093 93

A 30-year-old woman presented with hepatomegaly and an audible hepatic bruit at 24 weeks gestation. Non-contrast MRI demonstrated an exophytic 12.6 x 7.8 x 12.8 cm mass arising from the right lobe of the liver with a central scar, suggestive of focal nodular hyperplasia (FNH). Conservative management included monthly abdominal ultrasound examinations until the time of delivery, to assess growth of the mass and monitor for risk of rupture. Seven weeks post partum the patient experienced severe right upper quadrant pain. A CT angiogram of the liver demonstrated a stable mass with no evidence of bleed or rupture and multiple hypervascular masses throughout the liver. Surgical resection of the dominant lesion was performed. Histological examination of the lesion confirmed FNH. The patient is now 22 months post surgery with radiographic evidence of stable multifocal FNH.
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PMID:Symptomatic focal nodular hyperplasia during pregnancy: a case report. 1511 79

Infantile hepatic choriocarcinoma is a rare, highly malignant germ-cell tumour believed to result from a choriocarcinoma of the placenta that spreads to the child. Most infants present with a characteristic clinical picture of anaemia, hepatomegaly and precocious puberty. Imaging findings, including conventional MRI, may be non-specific. To improve the accuracy of diagnosis, we present the imaging findings of contrast-enhanced dynamic MRI in a 4.5-month-old boy with infantile hepatic choriocarcinoma.
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PMID:Solitary infantile choriocarcinoma of the liver: MRI findings. 1537 19

We present a case of a 73 year old man, who lost 12 kg of weight in one month, had abdominal pain and progressive hepatic failure. A MRI and liver ultrasound were performed and, with the patient's symptoms, hepatocellular carcinoma Vs metastatic liver was suspected. A PET-FDG was performed and the images showed hepatomegaly and splenomegaly, without other findings of interest. FDG distribution in the liver was homogeneous. The patient was diagnosed of hepatocellular carcinoma after liver biopsy. FDG-PET detects only 50 % to 70 % of hepatocellular carcinomas due to varying degrees of activity of the enzyme glucose-6-phosphatase in these tumors. This paper reviews the literature on this type of situations.
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PMID:[FDG-PET in hepatocellular carcinoma. Based on one case]. 1545 Jan 42

Choriocarcinoma is a malignant growth of trophoblastic cells characterized by secretion of human chorionic gonadotropin (hCG). Infantile choriocarcinoma is a very rare tumor, which is a complication of gestational choriocarcinoma and usually had very poor prognosis before chemotherapy was used. We report 1 new case as well as a review of the literature since 1945. Our case report describes the successful treatment by chemotherapy of a newborn with cerebral metastasis. Several features are important: Infantile choriocarcinoma occurs in infants aged 0 to 6 months. Anemia, hepatomegaly and hemorrhagic syndromes are the main symptoms with sometimes cerebral, cutaneous or ear-nose and throat localisations. But diagnosis can be difficult when clinical symptoms are poor. The main diagnostic criterion is a very high plasmatic or urinary level of hCG or beta-hCG in the newborn. Histological pattern is not mandatory for diagnosis. Thoracoabdominal CT scan and cerebral MRI are necessary to find metastases. Recommended treatment is chemotherapy and surgery is discussed when a tumoral residue remains. Post-treatment surveillance is based on clinical and radiological examination as well as negativation of beta-hCG. Choriocarcinoma occurring simultaneously in mother and child have been reported. Therefore it is necessary to assay maternal serum beta-hCG when infantile choriocarcinoma is disclosed and to assay serum beta-hCG in the newborn when the mother has gestational choriocarcinoma. Infantile choriocarcinoma is a very chemosensitive tumor and is thereby potentially curable. Early diagnosis is the most important prognostic factor.
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PMID:[Infantile choriocarcinoma: an uncommon and curable tumor]. 1627 51

Liver involvement in Langerhans cell histiocytosis (LCH) typically presents with hepatomegaly and other signs of liver dysfunction. We present an 11-month-old child having only minimally elevated liver enzymes as an indication of liver involvement. Using sonography as the initial diagnostic tool followed by MRI, LCH of the liver was revealed. A review of sonographic, CT, MRI and MR cholangiopancreatography findings in liver LCH is presented. We recommend that physicians consider sonography and MRI screening for liver involvement in patients with newly diagnosed LCH, as periportal involvement may be present with little or no liver function abnormality present, as in this patient.
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PMID:Liver involvement in Langerhans cell histiocytosis. 1681 98

Niemann-Pick disease type C (NPC) is a fatal neurovisceral lipid storage disease of autosomal inheritance resulting from mutations in either the NPC1 (95% of families) or NPC2 gene. The encoded proteins appear to be involved in lysosomal/late endosomal transport of cholesterol, glycolipids and other molecules but their exact function is still unknown. The clinical spectrum of the disease ranges from a neonatal rapidly fatal disorder to an adult-onset chronic neurodegenerative disease. Based upon a comprehensive study of 13 unrelated adult patients diagnosed in France over the past 20 years as well as the analysis of the 55 other cases published since 1969, we have attempted to delineate the major clinical, radiological, biochemical and genotypic characteristics of adult NPC. Overall, mean age at onset (+/-SD) of neuropsychiatric symptoms was 25 +/- 9.7 years. The diagnosis of NPC was established after a mean delay of 6.2 +/- 6.4 years and the mean age at death (calculated from 20 cases) was 38 +/- 10.2 years. Major clinical features included cerebellar ataxia (76%), vertical supranuclear ophthalmoplegia (VSO, 75%), dysarthria, (63%), cognitive troubles (61%), movement disorders (58%), splenomegaly (54%), psychiatric disorders (45%) and dysphagia (37%). Less frequent signs were epilepsy and cataplexy. During the course of the disease, clinical features could be subdivided into (i) visceral signs (hepatomegaly or splenomegaly), (ii) cortical signs (psychiatric cognitive disorders and epilepsy); and (iii) deep brain signs (VSO, ataxia, movement disorders, dysarthria, dysphagia, cataplexy) which exhibited different evolution patterns. Asymptomatic and non-evolutive visceral signs were often noticed since early childhood (38.5% of our patients), followed by mild cortical signs in childhood (learning difficulties) and early adulthood (62% of cases among which 38% were psychiatric disorders). Deep brain signs were observed in 96% of patients and were usually responsible for death. In general, there was a good correlation between clinical signs and the localization of brain atrophy on MRI. The 'variant' biochemical phenotype characterized by mild abnormalities of the cellular trafficking of endocytosed cholesterol was over-represented in the adult form of NPC and seemed associated with less frequent splenomegaly in childhood and lesser psychiatric signs. Involvement of the NPC1 gene was shown in 33 families and of the NPC2 gene in one. Improving the knowledge of the disease among psychiatrists and neurologists appears essential since emerging treatments should be more efficient at the visceral or cognitive/psychiatric stages of the disease, before the occurrence of widespread deep brain neurological lesions.
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PMID:The adult form of Niemann-Pick disease type C. 1700 72

A 58 year-old man who lived in Africa for 17 years, presented, four years after returning to western France, acute confusion and weight loss. He had no fever and no immunosuppression. Clinical examination revealed Babinski sign, mucosal ulcerations of the mouth and hepatomegaly. The lumbar puncture revealed a meningitis and MRI showed a few parenchymal enhancing masses in the brain. Stereotaxic biopsies were performed. Specific culture and coloration were positive for the diagnosis of cerebral histoplasmosis. At the beginning, antifungal treatment with amphotericin B and itraconazole provided improvement. But seizures occurred and the treatment by carbamazepine induced decreased blood level of itraconazole. Despite itraconazole IV the patient died. This observation illustrates the difficulties in diagnosis and treatment of cerebral histoplasmosis and the various patterns of drug interactions.
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PMID:[Miliary cerebral Histoplasma capsulatum in an HIV-negative patient]. 1760 9

Burkitt's lymphoma is a rare disease that belongs to the aggressive non-Hodgkin's lymphoma. Herein, we report a case of primary hepatic Burkitt's lymphoma. A 19-year-old man visited the hospital for right upper quadrant pain. He felt fatigue for two months. Physical examination revealed hepatomegaly and no palpable lymph node. He had no fever, weight loss, or night sweating. Laboratory finding showed mild anemia (hemoglobin, 12.4 g/dL), mild elevated transaminase (ALT, 52 IU/L), elevated lactate dehydrogenase (LDH, 437 IU/L), and alkaline phosphatase (ALP, 129 IU/L). The viral marker was positive for HBsAg, HBeAg, anti-HBs, and anti-HBc (IgG), and negative for anti-HBe, anti-HCV, and anti-HIV. CEA, AFP, and CA19-9 levels were within normal ranges. The HBV DNA quantitation was 1.3 x 10(9) copies/ml. Abdominal-Pelvis CT scan and abdominal MRI finding were compatible with malignant lymphoma. Liver biopsy examination confirmed Burkitt's lymphoma. No metastasis was detected in the thoracic cavity, bone marrow, and spinal fluid. The patient was treated with the combination regimen of cyclophosphamide, doxorubicin, vincristine, prednisone and high dose methotrexate. Cytosine arabinoside and methotrexate were added for CNS prophylaxis by intrathecal installation. Chemotherapy was administered every 3 weeks for fifteen cycles. Serial follow-up CT scan showed a marked decrease in the size of hepatic lesions. Follow-up CT scan and PET-CT scan were performed 4 weeks after the final cycle disclosed no definite residual or active lesion confirming the state of complete remission.
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PMID:A case of primary hepatic Burkitt's lymphoma. 1851 6

We report on clinicopathological and whole body MRI analyses of the index patient of a large nonconsanguineous German-Ukraine family with homozygous and heterozygous AGL gene mutations at position p.W1327X (c.3980G > A). There are only limited reports on this phenotype with a homozygous genotype. The index patient, a 49-year-old woman presented with hepatomegaly, cardiomyopathy and moderate progressive proximal limb myopathy. Skeletal muscle showed severe vacuolar myopathy with storage of PAS-positive non-membrane-limited glycogen. An increase in glycogen content and completely decrease of debranching enzyme activity was measured in erythrocytes. Mutational analysis of the AGL gene showed a homozygous p.W1327X mutation. In the family, two brothers had been affected by severe infantile onset hepatomegaly and died within their first years of life by fatal liver cirrhosis. Furthermore, another sister severely affected by hepatomegaly, cardiomyopathy and proximal skeletal myopathy died at age 33. Three younger heterozygous sisters and a brother noticed exercise-induced myalgia and weakness since their teens. In sum, a homozygous p.W1327X mutation leads to a severe generalized glycogenosis types 3a and 3b within the same family. Even heterozygous p.W1327X mutation carriers may present with mild non-progressive neuromuscular symptoms, such as exercise-induced myalgia and fatigue.
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PMID:Clinicopathological analysis of the homozygous p.W1327X AGL mutation in glycogen storage disease type 3. 1892 25


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