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)

Sixteen cases of nodular regenerative hyperplasia of the liver in children are presented. The patients, 10 girls and 6 boys, were between the ages of 7 months and 13 years, with a median of 6 years. Clinically, nine children presented with hepatomegaly or splenomegaly, with and without signs of portal hypertension. A history of anticonvulsant drug therapy was obtained in four patients. Associated conditions in the remaining three cases were Donohue's syndrome, disseminated intravascular coagulation, and angiomyolipoma of the kidney. In five patients a clinical diagnosis of primary intra-abdominal tumor was made. Follow-up showed that six patients died of causes unrelated to the nodular hyperplasia. Two patients were asymptomatic when last seen 5 and 18 years after the initial diagnosis of nodular hyperplasia. Both patients underwent shunt surgery. No follow-up was available for eight patients. The importance of recognizing this entity in the pediatric age group, as well as its histopathologic differential diagnosis, is stressed.
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PMID:Nodular regenerative hyperplasia of the liver in children. 203 39

This review summarizes the clinical and pathological findings of 52 cases of hepatic angiomyolipoma to discern and establish the most pertinent clinical and pathologic characteristics of the tumor. The disease was symptomatic in 60% of the patients. Abdominal pain or distress was the most common symptom, appearing in 37% of the patients, followed by malaise and upper abdominal mass or hepatomegaly. Of the 52 patients, only three (5.8%) showed associated tuberous sclerosis. Antemortem diagnosis of the tumor has been made with increasing frequency with the recent advent of computed tomography (CT) and ultrasound (US). The tumor was usually visualized as a hyperechoic mass by US imaging and as a low density mass less than -20 Housefield units by CT, and was hypervascular on angiography. The tumor was usually yellow to light tan, depending on the amount of fat tissue. Histologically, the tumor was characterized by an admixture of mature fat cells, blood vessels, and smooth muscle cells, with occasional foci of extramedullary hematopoiesis. The amount of smooth muscle component varied and often exhibited hypercellularity, pleomorphism with occasional bizarre giant cells, and moderate motitic activity. These features are considered conducive to an erroneous diagnosis of malignant tumor. However, since no malignant counterpart has been reported, it can easily be accurately differentiated histologically, if one is aware of the entity and can identify the three components of the tumor; blood vessels, smooth muscle cells, and fat. With regard to the histogenesis of angiomyolipoma, primitive mesenchymal cells around blood vessels may be the precursor cells.
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PMID:Angiomyolipoma of the liver: a collective review. 819 5

Tuberous sclerosis is characterized by typical skin and clinical manifestations with predilection to neoplasia. We describe the case of a 42-year old female who presented with a mass and pain in right lumbar region with constitutional symptoms and generalized body aches since last one year. She had adenoma sebaceum, subungual fibromas and hepatomegaly. CT chest, abdomen and MRI revealed mass in the right renal fossa with wide spread extensions in the abdomen, left renal angiomyolipomas (AMLs) and intracerebral lesions. Her clinical and radiological findings were suggestive of tuberous sclerosis with multiple mass lesions. She had past history of being operated for right renal AML twelve years ago. In current admission she developed refractory seizures and required mechanical ventilation. Biopsies from the renal fossa mass and liver revealed epithelioid variant angiomyolipomas. It is an uncommon variant which can present with features of malignancy or local recurrence or distant metastasis occasionally. Our case emphasizes the importance of being acquainted with skin lesions which can help in early diagnosis and management of tuberous sclerosis.
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PMID:Tuberous Sclerosis with Disseminated Malignancy. 2780 37