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)

An acutely ill 6-month-old female infant presented with massive hepatomegaly, accompanied by severe anemia with peripheral normoblastemia and thrombocytopenia. Bone marrow examination revealed erythroid hyperplasia with gross erythroid dysplasia, reduced granulocytic precursors, and virtually absent megakaryocytes. The bone marrow also contained completely necrotic cells occurring in clumps as well as singly. The appearances suggested bone marrow involvement by neuroblastoma. Accordingly, combination chemotherapy was instituted and laparotomy was performed as soon as her clinical condition had improved. Left adrenalectomy was carried out, because a small adrenal nodule of ganglioneuroma was present. Liver biopsy showed expansion of portal tracts by loose fibrous connective tissue containing hemosiderin deposits and some degenerate cellular debris, consistent with areas of involuted metastatic neuroblastoma. Complete recovery followed, and subsequent bone marrow examination was entirely normal. It is thought that the dyserythropoiesis probably resulted from the release of toxic metabolites from regressing neuroblastoma.
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PMID:Transient dyserythropoiesis occurring during the involutionary phase of stage IV-S neuroblastoma. 271 38

We report an unusual case of lambda light chain deposits without overt plasma cell dyscrasia. The clinical presentation was hepatomegaly without biochemical sign of renal involvement. Portal hypertension, spontaneous rupture of the spleen and fracture of the 12th thoracic vertebra occurred during the course of the disease. Ultrastructural studies showed that lambda light chain deposits were associated with amyloid-like deposits. This case suggests that light chain deposition disease and amyloidosis could be two expressions of the same disease.
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PMID:Light chain deposition disease presenting with hepatomegaly: an association with amyloid-like fibrils. 315 78

The purpose of this study was to elucidate the clinical features of right ventricular (RV) dysplasia, a recently described clinical entity characterized by RV myopathic changes and ventricular tachycardia of left bundle branch block morphology. Five cases were reported, in which the diagnosis was established according to the criteria of Marcus. Case 1, a 33-year-old man, was referred to us for evaluation of his paroxysmal ventricular tachycardia of five years duration. Case 2, a 38-year-old man, was admitted because of shock caused by ventricular tachycardia. In both cases, the QRS configurations during ventricular tachycardia were those of the left bundle branch block pattern, and electrocardiograms during sinus rhythm showed T wave inversions in the right precordial leads and late ventricular potentials. Two-dimensional echocardiography, radionuclide angiography and contrast angiography disclosed RV dilatation and dysfunction with normal left ventricular (LV) function. The biopsied myocardium from the right and left ventricles in Case 2 revealed myocytolysis, a paucity of myofibrils and proliferation of collagen fibers. Case 3, a 73-year-old woman began to experience exertional dyspnea since 16 years of age. Her treatment consisted of bed rest, diuretics and digitalis. In December 1983, her New York Heart Association functional class was III, and physical examinations disclosed a Levine III/VI systolic murmur suggestive of tricuspid regurgitation, jugular vein dilatation, hepatomegaly, and pretibial edema. Electrocardiogram showed atrial fibrillation, incomplete right bundle branch block and T wave inversions in the precordial leads. Chest radiograph revealed marked cardiomegaly (cardiothoracic ratio of 92%). Echocardiography, radionuclide angiography and contrast angiography revealed marked RV dilatation, depressed ejection fraction (RV end-diastolic volume index of 342 ml/m2, and RV ejection fraction of 28%). Case 4, a 20-year-old man, was admitted with a chief complaint of palpitation. Case 5, a 19-year-old man, was referred to us for the evaluation of asymptomatic cardiomegaly, and his cardiothoracic ratio was 54%. A 12-lead electrocardiogram showed right bundle branch block and T wave inversions in the right precordial leads. Ambulatory electrocardiography revealed frequent premature ventricular complexes of the left bundle branch block pattern. Echocardiography, radionuclide angiography, and contrast angiography disclosed RV dilatation and dysfunction in both cases, and mild LV dilatation and dysfunction (LV end-diastolic volume index of 149 ml/m2, LV ejection fraction of 48%) in Case 4.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:[Right ventricular dysplasia: clinical characteristics of five patients]. 383 64

We reviewed a series of 109 reported Japanese cases of "plasma cell dyscrasia with polyneuropathy and endocrine disorder." This syndrome shows 1) polyneuropathy with increased protein level in the cerebrospinal fluid and sometimes papilledema, 2) endocrinological symptoms, including skin pigmentation, sclerosis, hypertrichosis, gynecomastia, impotence, amenorrhea, decreased glucose tolerance, edema, pleural effusion and ascites, 3) hepatomegaly, splenomegaly and lymphadenopathy, 4) polycythemia, leukocytosis and thrombocytosis, 5) osteosclerotic changes and 6) plasma cell dyscrasia. Plasma cell dyscrasia is considered to be the cardinal change in this syndrome. Most of the patients have low levels of IgG lambda or IgA lambda M-protein in the serum and a slightly increased number of plasma cells in the bone marrow. The clinical course is usually chronic. Surgical excision or irradiation of the local lesion and administration of corticosteroids and/or anti-cancer drugs are effective in improving polyneuropathy and other systemic symptoms. This syndrome is apparently more common in Japan than in the United States and European countries. The pathogenesis of the association of a variety of symptoms in this syndrome is still unclear.
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PMID:Plasma cell dyscrasia with polyneuropathy and endocrine disorder: clinical and laboratory features of 109 reported cases. 631 93

This report describes the pathology of kappa light-chain deposition in a 55-year-old patient who presented with respiratory insufficiency and hepatomegaly. Biopsies of lung and liver showed PAS-positive deposits which did not stain with congo red, crystal violet, or thioflavin-T. By indirect immunoperoxidase techniques, the deposits were composed of kappa light-chain immunoglobin. Electron microscopy revealed granular and fibrillar electron-dense material which lacked the characteristics of amyloid. Subsequent clinical studies showed this patient had a plasma cell dyscrasia. These data show that kappa light-chain deposition is not limited to the kidney, and that the first manifestation of a plasma cell dyscrasia may be systemic deposits of light chain. These deposits can be distinguished from amyloid by their immunochemical, tinctorial, and ultrastructural appearance.
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PMID:Systemic kappa light-chain deposition. An ultrastructural and immunohistochemical study. 640 47

A syndrome which is known as plasma cell dyscrasia with polyneuropathy and various endocrine manifestations or plasma cell dyscrasia with polyneuropathy, organomegaly, endocrinopathy, abnormal M protein and skin changes is very interesting because this syndrome has miscellaneous manifestations such as skin hyperpigmentation, hypertrichosis, polyneuropathy, M protein abnormality, plasma cell dyscrasia and endocrine disturbances. Miscellaneous endocrine abnormalities which have not been described so far are reported here. A 47 year old female was admitted with the chief complaints of edema and gait disturbance. Past and family histories were noncontributory. In April 1981, edema appeared in her face and legs. In June she noticed paresthesia in her legs. Edema increased gradually and she had difficulty walking. Her skin became pigmented and hairy. In October she was admitted because of polyneuropathy with increased cerebrospinal fluid protein without pleocytosis. Prednisolone was started. Walking improved slightly, but edema and paresthesia remained unchanged. Prednisolone was stopped at the end of the following March. In May 1982, she was admitted for further evaluation of edema and polyneuropathy. The patient was alert and cooperative. On standing the skin of her legs became cyanotic. There was hypertrichosis on the arms and legs. Her fingers were clubbed. A moderate swelling of the cervical lymph nodes was noted. There was mild hepatomegaly without splenomegaly. All tendon reflexes were lost. Plantar response was flexor. Muscular strength diminished mildly. She complained of paresthesia on the soles. Superficial sensation was normal. Vibratory sense decreased mildly. Cerebellar function and cranial nerves were normal. There was no sphincter disturbance. The examination of urine, stool and peripheral blood was normal.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Marked endocrine abnormalities in polyneuritis with skin hyperpigmentation, hypertrichosis, edema and increased lambda type immunoglobulin A: a case report]. 641 99

This report describes a third mucopolysaccharidosis in animals: canine mucopolysaccharidosis VII. The affected dog was the offspring of a father-daughter mating. Weakness in the rear legs was evident at 8 weeks of age and became progressively worse. He had a large head, a shortened maxilla, and corneal granularities. Most joints were extremely lax, easily subluxated, with joint capsules that were swollen and fluctuant. The dog was alert and had apparently normal pain perception. At 13 months of age, there was radiographic evidence of extensive skeletal disease including bilateral femoral head luxation, abnormalities in the shape and density of the carpal and tarsal bones, radiolucent lesions of the epiphyseal regions of most long bones, and cervical vertebral dysplasia and platyspondylia. The electrophoretic pattern of precipitated glycosaminoglycans indicated a predominance of chondroitin sulfate. The animal died suddenly from gastric dilatation. There was generalized hepatomegaly, thickening of the atrioventricular heart valves, and generalized polyarthropathy. Vacuolated cytoplasm was observed in hepatocytes, keratocytes, fibroblasts, chondrocytes and cells of the synovial membrane, retinal pigment epithelium, and cardiac valves. Neurons had cytoplasmic vacuoles. Electron microscopy demonstrated membrane-bound cytoplasmic inclusions in polymorphonuclear leukocytes, hepatocytes, synovium, heart valves and spleen. The activities of 12 lysosomal hydrolases were determined in liver from the affected and control dogs: beta-glucuronidase (EC 3.2.1.31), beta-hexosaminidases A and B (EC 3.2.1.30), alpha-hexosaminidase (EC 3.2.1.-), alpha-L-iduronidase (EC 3.2.1.76), alpha-galactosidase A (EC 3.2.1.22), beta-galactosidase (EC 3.2.1.23), arylsulfatases A and B (EC 3.1.6.1), acid alpha-mannosidase (EC 3.2.1.24), acid beta-mannosidase (EC 3.2.1.25), and N-acetyl-D-galactosamine-6-sulfate sulfatase (EC 3.1.6.-).(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Beta-glucuronidase deficiency in a dog: a model of human mucopolysaccharidosis VII. 643 80

We describe a girl with the manifestations of geleophysic dwarfism: small stature, a peculiar but pleasant and good-natured facial appearance, a dysostosis-multiplex-like bone dysplasia affecting predominantly hands and feet, hepatomegaly and stenosis, and insufficiency of the aortic valve. The proposita's sister died of heart failure at 3 years and was reported by the mother to have been a tiny child with small hands.
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PMID:Familial recurrence of geleophysic dysplasia. 650 94

Golabi and Rosen (1984) have reported on a new X-linked mental retardation/multiple congenital anomalies (XLMR/MCA) syndrome of pre- and postnatal overgrowth, characteristic "coarse" facial appearance with macrostomia, midline groove of tongue, lower alveolar ridge and lip, submucous cleft of palate, supernumerary nipples, intestinal anomalies, supernumerary pair of ribs, anomalies of sacrum and tailbone, hypoplastic index fingernails, postaxial polydactyly and other digital anomalies. This was an incompletely recessive trait with some manifestations evident in an obligatory carrier. Here we report on a second family (studied at the University of Wisconsin for over 9 years) in which 3 males born to half-sisters and their mother were affected with the Golabi-Rosen syndrome (GRS). Overgrowth was not a prominent manifestation in these affected males. Presence of cystic kidneys, peculiar skin changes and hepatomegaly make it likely that the Golabi-Rosen syndrome is an X-linked MCA/dysplasia/MR syndrome. Its metabolic basis remains unknown. It seems to be an incompletely recessive trait.
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PMID:The Golabi-Rosen syndrome--report of a second family. 653 56

We present a case of an unusual multi-systematic disorder whose cardinal signs were severe progressive sensorimotor polyneuropathy, hepatomegaly, endocrinopathy, plasma cell dyscrasia with osteosclerotic bone lesions and M-protein production as well as skin lesions (termed POEMS Syndrome) whose pathophysiology is still unknown, as well as its relationship with myeloma multiplex. The patient, 67 years old, had a history of progressive weakness and numbness of the lower legs, clinically revealed as sensomotor polyneuropathy, hepatomegaly, IgG lambda monoclonal protein in the serum, endocrine abnormalities and skin lesions. The final and definite diagnosis was established by open, surgical biopsy of the second lumbal vertebra.
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PMID:[Polyneuropathy, organomegaly, endocrinopathy, M-protein, skin changes: the POEMS syndrome]. 820 22


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