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)

Mucopolysaccharidosis V (Scheie's syndrome, MPS-IS) is a very rare, autosomal recessively inherited metabolic disease. The degradation of dermatan sulphate and heparan sulphate is disturbed due to alpha-L-iduronidase deficiency, leading to intracellular storage and excessive urinary secretion of these substances. The characteristic clinical features are contractures (claw-like flexion of the fingers), umbilical and inguinal herniae, corneal opacity, hepatomegaly, myocardiopathy and minor skeletal malformations. A patient with Scheie's syndrome is now reported for the first time in Austria; the results of the clinical, biochemical, chromosomal, dermatoglyphic and electron optical investigations are described and discussed.
Wien Klin Wochenschr 1978 Dec 08
PMID:[Mucopolysaccharidosis V (Ullrich-Scheie syndrome) (author's transl)]. 15 10

The clinical course of 40 patients with histologically proven hepatocellular carcinoma was reviewed. The majority had symptoms and signs suggesting abdominal malignancy; these included abdominal pain, weight loss, tenderness in the right upper quadrant, hepatomegaly, and fever. The most useful diagnostic tests were determination of serum alkaline phosphatase level, sodium sulfobromophthalein (Bromsulphalein) excretion, and liver scan. Prothrombin time and bilirubin levels were normal or only slightly elevated. Celiac angiography was helpful in determining the extent of the disease. Surgical exploration was done in 25% of the cases, but in only 5% was resection attempted. The grim prognosis is indicated by the fact that only 10% of patients were alive six months after admission to the hospital.
South Med J 1975 Dec
PMID:Hepatocellular carcinoma: a clinical study. 17 24

A fatal case of systemic carnitine deficiency is reported. The patient suffered from slowly progressive muscle weakness since early childhood. After the age of 17 years her weakness progressed more rapidly until her death at the age of 20. A pregnancy during the last year of the patient's life was followed by rapid deterioration in her condition. An episode of renal insufficiency occurred at the age of 17 years and hepatomegaly, increased BSP dye retention and intermittent ketoacidosis were present during the last month of her life. Biopsy and autopsy specimens of muscle showed a lipid storage myopathy. Type 1 fibers were selectively severely affected, and many Type 1 fibers were atrophic. Abundant large mitochondria, some also containing abnormal inclusions, were also present in the muscle fibers. At autopsy there was marked accumulation of sudanophilic lipid deposits in all hepatocytes, in the renal tubular epithelial cells, and a patchy increase of lipid material was found in the myocardial fibers. There was marked carnitine deficiency in the patient's liver as well as muscel, while the carnitine palmityltransferase activities in these tissues were abnormally high. The basic metabolic abnormality is assumed to be a defect in carnitine biosynthesis.
J Neurol Sci 1976 Dec
PMID:Fatal systemic carnitine deficiency with lipid storage in skeletal muscle, heart, liver and kidney. 18 38

The paper presents the case of a patient with borderline hanseniasis. After a long period of illness, he presented an outbreak with new lesions, that showed reactional tuberculoid aspects; he later presented lesions with clinical and histological aspects of Virchowian hanseniasis. This evolutional type is compatible with the pseudo-exacerbations outbreaks reported by Souza Lima. This patient also presented an Erythema Nodosum outbreak with cutaneous and visceral lesions, the latter occurring with great intensity in the liver parenchyma with clinical manifestations of icterus and hepatomegaly. The pathogenesis of the pseudo-exacerbations outbreaks is discussed, also the special situation of Borderline patients, subject to neurologic injuries during the pseudo-exacerbations outbreaks, and cutaneous, neurological and visceral lesions during the Erythema Nodosum Hansenicum outbreaks.
Hansenol Int 1979 Dec
PMID:[Dimorphous Hansen's disease with outbreaks of Hansen reactions and visceral lesions]. 26 77

Two cases of T-cell chronic lymphoid leukaemia in adults were classified by recently developed immunological methods. Clinically there was splenomegaly, hepatomegaly, marked anaemia, para-aortic lymph nodes, cutaneous infiltration, little peripheral lymph-node enlargement and significant marrow infiltration. Immunological tests of membrane antigens revealed T-cell determinants. T-CLL may differ in its course and prognosis from B-CLL and may require different treatment.
Dtsch Med Wochenschr 1977 Dec 16
PMID:[T-cell leukaemia in adults: report of two cases (author's transl)]. 30 81

The disease course is described in 21 patients with low serum concentrations of alpha1-antitrypsin of the phenotype Z (genotype pi ZZ). 13 of these patients have long-standing disease characterized by bronchitis or dyspnea beginning before the age of 40 and progressing to emphysema (11 patients) and to corpulmonale (7 patients). The remaining 8 patients are children with hepatopathy characterized by prolonged jaundice at birth, persistent hepatomegaly and persistently elevated liver enzymes. In 2 children, the evolution to cirrhosis was ascertained by biopsy.
Schweiz Med Wochenschr 1978 Dec 23
PMID:[Severe alpha 1-antitrypsin deficiency: clinical observations of 21 patients]. 31 May 77

The pathogenesis of jejunoileal bypass-induced liver disease was investigated in the rat model. Male Sprague-Dawley rats were subjected to 90% jejunoileal bypass and compared to rats having undergone 90% jejunoileal resection, to ad libitum and pair-fed controls and to weight-matched (underfed) controls. After 8 weeks the animals were killed and selected analyses performed. Several indications of liver dysfunction were observed in the bypass rats including hepatomegaly, hypotriglyceridemia, hypoproteinemia, elevated SGOT levels, and markedly decreased levels of cytochrome P-450. All of these abnormalities with the exception of elevated SGOT levels and decreased serum proteins were not observed to the same degree in animals in which the defunctionalized bowel was resected. Rats which were underfed (weight matched) did not develop any of the abnormalities of liver injury demonstrated in the bypass rats. Multiple factors appear to be responsible for the production of bypass-induced liver disease, but the defunctionalized bowel plays an important role.
Dig Dis Sci 1979 Dec
PMID:Role of defunctionalized bowel in jejunoileal bypass-induced liver disease in rats. 51 91

The results of liver, bone, and brain scans in 84 patients with recurrent or metastatic malignant melanoma were reviewed. The liver scan was initially positive in 18% (14/78) and ultimately in 32% (25/78). Serum alkaline phosphatase and lactic dehydrogenase were elevated in 92%. These patients ultimately developed positive liver scans, while convincing hepatomegaly was noted in only 44%. Bone scans were eventually positive in 33% (16/49), all of whom had pain. Brain scans were positive in 15% (10/65), all of whom had CNS symptoms. In asymptomatic patients, bone and brain scans only rarely disclosed occult lesions.
Clin Nucl Med 1979 Dec
PMID:Radionuclide scanning in patients with advanced malignant melanoma. 52 90

Twenty infants and young children with hereditary fructose intolerance (HFI) were admitted to hospital. None was diagnosed at admission. Referals were for vomiting of unknown aetiology (16X), pyloric stenosis or hiatus hernia (5X), toxic condition (3X), and hepatomegaly of unknown origin (5X). Feeding difficulties (20X), vomiting (18X), and failure to thrive (16X) were leading symptoms. The most frequent clinical findings were hepatomegaly (18X), pallor (14X), haemorrhages (13X). Ascites, oliguria, tachypnoea, fever, splenomegaly and rickets were less frequent. Laboratory findings were indicative of disturbed hepatic and renal tubular function and also of disturbed intermediary metabolism (hypokaliaemia, hypophosphataemia). However, hypoglycaemia was found in only 4 out of 15 patients tested. Differential diagnosis after hospital admission centered on metabolic disorders such as glycogenoses, galactosaemia, tyrosinosis, or Wilson's disease. Hepatitis, toxic hepatosis, liver tumour, intrauterine infection and sepsis were also considered. Eleven children had first ingested fructose within the first 6 weeks of life. The diagnosis was usually established only many weeks or months after first fructose intake and appearance of symptoms. This documents how difficult the diagnosis of this disease can be both in practice and in hospital. The course was severe in 11 children and lethal in 4. In only 5 patients was the course mild. The 16 survivors are doing well under fructose-exclusion diet. Irreversible visual impairment after intraocular haemorrhage occurred once. In each case HFI could have been suspected immediately, had a detailed nutritional history been taken. Practising paediatricians should know the composition of commonly used infant formulae. They should never prescribe sugared condensed milk for intractable vomiting prior to excluding HFI. Solution for intravenous infusion containing fructose and sorbitol are life-threatening for undiagnosed HFI patients.
Helv Paediatr Acta 1978 Dec
PMID:Hereditary fructose intolerance in early childhood: a major diagnostic challenge. Survey of 20 symptomatic cases. 73

The results of biochemical studies in three children with cholesterol ester storage disease are reported. This rare disease (13 published cases) and the related Wolman's disease are characterised by a deficiency of acid lipase. Affected children mostly present with isolated hepatomegaly. Hepatic cells (one patient) and fibroblasts (two patients) were cultured and cholesterol accumulation measured. Hepatic cells contained more cholesterol than fibroblasts but the enzyme deficiency, assessed by the abnormal degree of esterification was the same in both cell types.
Arch Fr Pediatr 1978 Dec
PMID:[Cholesterol ester storage disease in children. Comparative biochemistry of hepatocyte and fibroblast cultures]. 74 52


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