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)

Myelofibrosis is observed in 1/5 of the cases of C.M.L. It consists of reticulin fibers with few collagen and no osteosclerosis. It involves signs which usually indicate the extension of the myelosis to other organs and other types of cells: hepatosplenomegaly, erythroblastosis, thrombocytemia. Its prognosis is always bad. In one third of the cases, myelofibrosis develops early, and in two third it is late. Chimiotherapy is not responsible for it. These forms of C.M.L. with myelofibrosis appear as a special type of myeloproliferative disorder apart from the true C.M.L. and the true osteomyelofibrosis.
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PMID:[Myeloid leukemia with myelofibrosis (author's transl)]. 12 27

An autopsy case of a 19-year-old boy who had shown typical gargoyle features, strictly consistent with mucopolysaccharidosis type II (Hunter's syndrome) was reported. Histologically, cytoplasmic vacuolar change was found in hepatocytes, sinusoidal epithelium of spleen, follicular cells of thyroid, Sertoli cells of testis, chromophobe cell of pituitary and generalized fibroblast-like cells including meninges, cardiac valve and periosteum. The vacuoles consisting of membrane-bound structures with flocculus protein-like material and occasional electron dense bodies on electron microscopy, were considered to be the site of mucopolysaccharide deposition by histochemical analysis. Deposition of lipid material consistent with so-called membranous cytoplasmic body was observed in the neurons of central, peripheral and autonomic nervous system. Hepatosplenomegaly could be explained by cytoplasmic deposition, but the cause of cardiomegaly remained further to be studied. Biochemically hepatic mucopolysaccharide was identified as heparan sulfate, while in the kidney dermatan sulfate and heparan sulfate were detected. The correlation between morphology and biochemistry, and between deposition and degeneration was discussed.
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PMID:Morphological and biochemical studies of a case of mucopolysaccharidosis II (Hunter's syndrome). 13 78

In this paper on hepatosplenic sarcoidosis the authors confirmed currently accepted concepts and further refined the examination of liver and spleen by selective arteriography of the celiac artery. In addition, they emphasized the frequency of hepatosplenomegaly in sarcoidosis as well as the speckled aspect of the parenchyma of both organs, which appeared dotted with innumerable small lacunae. This appearance was not strictly pathognomonic of sarcoidosis. Cortisone treatment caused reversion to a normal pattern in the patients.
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PMID:Selective arteriography of the celiac artery in patients with thoracic sarcoidosis. 13 63

Three atypical patients with clinical and laboratory findings of Hurler syndrome, but without alpha-L-iduronidase deficiency, are described. Clinical features included characteristic facies, mental retardation, corneal clouding, dysostosis multiplex, restriction of joint mobility, and hepatosplenomegaly. Excessive amounts of chondroitin sulfate B and heparitin sulfate were excreted in the urine. alpha-L-Iduronidase activities in leucocytes and liver tissues were within the normal range or somewhat elevated.
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PMID:Atypical Hurler syndrome without alpha-L-iduronidase deficiency. 13 68

A transient dermatologic abnormality which gave a histologic picture compatible with malignant lymphoma is described. The clinical manifestations included diarrhea, hepatosplenomegaly, moderate lymph node enlargement without histopathological changes and evidence of involvement of the reticulo-endothelial system. Both the dermatologic and gastrointestinal disorders appeared approximately 1 year after discontinuation of treatment with diphenylhydantoin, which the patient had taken for 2 years. The possible association between the transient abnormality and the previous diphenylhydantoin therapy justifies the classification of this case as 'pseudolymphoma syndrome'.
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PMID:Psuedolymphoma syndrome. 14 19

A 2-year-old boy with macrocephaly, communicating hydrocephalus, and mild hepatosplenomegaly was found to have mild Hunter syndrome (MPS II). Establishment of the latter diagnosis was complicated by the paucity of obvious physical findings because of the patient's young age and his ethnic origin.
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PMID:Hunter syndrome presenting as macrocephaly and hydrocephalus. 14 40

Congenital leukaemia is a rare disease with approximately 100 cases reported in the literature. It is most often diagnosed as acute myelogenous leukaemia (AML). Leukaemic skin nodules and hepatosplenomegaly are the most frequent clinical findings noted. The laboratory manifestations include a markedly elevated white count with a large percentage of blasts, and a bone marrow aspirate that is cellular with a monotonous population of immature cells. Neonatal leukaemoid and leucoerythroblastic reactions may cause diagnostic confusion. In particular, the neonate with Down's syndrome can manifest either AML or a profound transient myeloproliferative syndrome that is clinically and haematologically indistinguishable from congenital AML. In contrast to congenital leukaemia, however, this myeloproliferative syndrome is transient and resolves spontaneously without anti-leukaemia therapy. On the other hand, untreated congenital leukaemia is a fatal disease. For this reason it is important to establish early diagnosis of congenital leukaemia and institute therapy. Treatment programmes should be modelled after established childhood programmes for acute lymphocytic leukaemia and acute myelogenous leukaemia.
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PMID:Congenital leukaemia and the neonatal myeloproliferative disorders associated with Down's syndrome. 14 90

The clinical characteristics of a 16-year-old white girl with mucolipidosis type III included early growth retardation, severe dysostosis multiplex, restricted joint motion, tight indurated skin, swollen eyelids, late-onset hepatosplenomegaly, umbilical hernia, corneal opacities, and only slightly impaired mental and neurological development. Cultured fibroblasts contained numerous coarse perinuclear retractile inclusions. Biochemical findings indicated the following: (1) normal levels of urinary acid mucopolysaccharides, (2) deficient activities of multiple lysosomal hydrolases in cultured fibroblasts, (3) elevated activity levels of seven serum lysosomal hydrolases, and (4) elevated activity levels of four lysosomal hydrolases in urine.
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PMID:Mucolipidosis type III. Multiple elevated serum and urine enzyme activities. 15 78

The female patient initially showed the acquired type of total lipoatrophy at about 8 years of age. At 12 years of age, the onset of diabetes mellitus was speculated from advanced pyodermia and dedentition. At 29 years of age, glucosuria was found, and she developed proteinuria, ascites, and pretibial edema. The physical examination revealed: hepatosplenomegaly, complete absence of subcutanous fat, cutaneous xanthomas, and emaciated facies with pronounced zygomatic arches. Diabetic retinopathy was revealed in the ophthalmological examination, and nephropathy was evident in renal biopsy specimens. She also had peripheral diabetic neuropathy. No adipose tissue was found in the mesenterium under peritoneoscopy. The hepatic biopsy specimen revealed advanced portal liver cirrhosis. Laboratory findings included: hyperlipidemia, elevation of BMR without evidence of hyperthyroidism, impaired renal function, and undetected anti-insulin antibodies and anti-insulin antibodies. Endocrinological examinations revealed normal value, except for an impaired hGH response in the arginine test. C-peptide immunoreactivity was high. Her condition was fairly well controlled by 140 units of insulin injection daily.
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PMID:Lipoatrophic diabetes. Report of a case. 15 92

From 1973 to 1978 13 cases of cystic hydatid disease and 15 cases of alveolar hydatid disease of the liver were diagnosed by angiography. The main diagnostic features of cystic hydatid disease of the liver are the following: "rim-sign", avascular areas, curved displacement of the arteries and stretching of the intrahepatic arteries. Multilocular hydatid disease of the liver shows tumor-like angiographic signs, such as atypical vascular formations, distensions, vascular irregularities, arterial stenoses as well as hepatosplenomegaly. Differential diagnosis in malignant liver diseases is often impossible, but early venous filling and arteriovenous shunts are not characteristic of multilocular hydatid disease of the liver. Particularly difficult is the interpretation in patients who have had previous surgery.
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PMID:[Angiographic features of liver echinococcosis (author's transl)]. 15 48


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