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)

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.
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PMID:Hereditary fructose intolerance in early childhood: a major diagnostic challenge. Survey of 20 symptomatic cases. 73

To determine which variables most accurately define congestive heart failure (CHF) in infants, 41 patients (median age 2.5 months) were graded by four pediatric cardiologists for the presence and severity of CHF based on the following variables: amount of formula consumed per feeding, feeding time, history of diaphoresis or tachypnea, growth parameters, respiratory and heart rates, respiratory pattern, perfusion, presence of edema, diastolic filling sounds, and hepatomegaly. There were 19 patients graded as having no CHF, nine as mild, seven moderate, and six severe CHF. The most sensitive and specific variables (p less than 0.0001) for the presence of CHF were a history of less than 3.5 oz/feed, respiratory rate greater than 50/min, an abnormal respiratory pattern, diastolic filling sounds, and hepatomegaly. Moderate to severe CHF was present when patients took less than 3 oz/feed or greater than 40 min/feed, had an abnormal respiratory pattern with a resting respiratory rate greater than 60/min, and had a diastolic filling sound and moderate hepatomegaly. Severe CHF was accompanied by a heart rate greater than 170/min, decreased perfusion, and severe hepatomegaly. Thus, the grading of the severity of CHF in infants should include an accurate description of these historical and clinical variables.
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PMID:Grading the severity of congestive heart failure in infants. 161 22

Between October, 1985, and February, 1987, 28 (8.7%) cases of scrub and murine typhus were diagnosed among 320 children with greater than or equal to 1 week history of obscure fever. Scrub typhus is a rural disease and characterized by fever, tachypnea and hepatosplenomegaly. Skin rash was rare and eschar was absent. Four patients had pneumonia and two had meningitis. Murine typhus, more an urban disease, was milder and half the patients presented exclusively because of night fever. Slightly enlarged liver and skin rash were the only significant physical signs. Lacking the classical textbook presentations, both rickettsioses often were missed or diagnosed as enteric fever. Recognition is important because patients with either disease respond well to treatment with chloramphenicol or doxycycline.
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PMID:Scrub and murine typhus in children with obscure fever in the tropics. 204 66

A three-day-old female infant was transferred to the Pediatric Intensive Care Unit with chief presenting problems of progressive change of cyanosis and respiratory distress. Physical examination revealed tachypnea, acrocyanosis, hepatomegaly, undetectable pulse of extremities and oozing over the place of venous puncture. Chest roentgenograms revealed slight cardiomegaly; other X-rays were within normal limits. Complete electrocardiograms showed right axis deviation and right ventricular hypertrophy. Because of an impression of neonatal sepsis, the patient was put in an incubator with oxygen and antibiotics were given. Persistent anuria appeared associated with sighs of cardiac and renal failure; the ventilator was applied; dopamine and lasix were also given. Unfortunately, the cyanosis worsened progressive. Despite several attempts at resuscitations, the infant expired eight hours later. Pathology disclosed the heart size as normal; hypoplasia of ascending aorta as 0.4 cm in diameter; a PDA with 1 cm in diameter; a diminutive bean-sized left ventricle; hypertrophy of right ventricle and atresias of aortic and mitral valves. There was no evidence of septicemia.
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PMID:[Hypoplastic left heart syndrome due to aortic and mitral atresias: report of one case]. 263 9

It is important to define clinical signs that can be used to identify children who have a high risk of dying from pneumonia so that these children can be given more intensive therapy. We prospectively studied 748 children in Papua New Guinea who had severe pneumonia, as defined by the World Health Organization. There was a very high mortality in children with a prolonged illness, severe roentgenogram changes, cyanosis, leukocytosis, hepatomegaly or inability to feed, and there was a trend toward a higher mortality in children with grunting or severe chest indrawing. Afebrile malnourished children had a particularly high mortality, but afebrile children had an increased mortality only if they were malnourished, and malnourished children had an increased mortality only if they were afebrile. Mortality was not increased in very young children or in children with tachypnea or tachycardia. The World Health Organization has suggested that most children with pneumonia in developing countries can be treated with penicillin but has recommended that children who are cyanotic or too sick to feed be treated with chloramphenicol because of their high risk of dying; our findings confirm that children who are cyanotic or too sick to feed have a very high risk of dying from pneumonia.
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PMID:Clinical signs that predict death in children with severe pneumonia. 269 26

A 39-year-old woman presented at 34 weeks gestation with a febrile illness. This initially settled but recurred 6 days later, when uncontrolled vaginal bleeding necessitated caesarian section. At operation, vesicles were seen on the mother's hyperaemic uterus. The infant developed tachypnoea, bradycardia, cerebral irritation, an enlarged liver and spleen, intravascular coagulation and a transient rash. Mother and child made a full recovery. Coxsackie B2 virus was isolated from the infant and rises in the titre of Coxsackie B virus-specific IgM were detected in mother and child.
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PMID:A novel presentation of Coxsackie B2 virus infection during pregnancy. 282 13

Three patients with respiratory failure resulting from miliary tuberculosis had a characteristic clinical presentation that included a long history of a prominent cough, dyspnea, weight loss, tachycardia, tachypnea, pulmonary adventitious sounds, and hepatomegaly. Hematologic investigation showed a normal white cell count with marked left shift in the morphology of white cells in all three patients, and evidence of disseminated intravascular coagulation in one patient. In only one patient was the initial sputum positive for acid-fast bacilli; in the others, invasive diagnostic procedures including lumbar puncture, bone marrow trephine, and open-lung biopsy were necessary for diagnosis. Miliary tuberculosis should be suspected in patients with adult respiratory distress syndrome of unknown etiology. Simple diagnostic procedures such as sputum, bronchial brushings, and urine examination should be followed by bone marrow trephine, liver biopsy, transbronchial lung biopsy, and lumbar puncture if physical signs of meningitis are present.
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PMID:Adult respiratory distress syndrome associated with miliary tuberculosis. 396 42

In three cases of pulmonary tuberculosis associated with the adult respiratory distress syndrome the clinical features, which were similar to those of patients with miliary tuberculosis and adult respiratory distress syndrome, included a history of cough, fever, and dyspnoea on effort, and the physical signs of fever, tachypnoea, pulmonary adventitious sounds, tachycardia, and hepatomegaly. In these cases the radiological features, though suggestive of diffuse pulmonary oedema, were more prominent on the side in which the cavitatory lesion appeared. The diagnosis of tuberculosis was made easily from direct examination of sputum. Despite early ventilatory support and antituberculous therapy, two of the three patients died. Postmortem examination of the lungs in these cases showed evidence of acute alveolar damage (loss of type 1 pneumocytes and the presence of hyaline membranes within alveolar ducts) and of chronic alveolar damage (interstitial and alveolar fibrosis).
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PMID:The adult respiratory distress syndrome bronchogenic pulmonary tuberculosis. 674 May 41

Congenital cardiac defects and the clinical symptoms they exhibit are affected intimately by the relation they have with pulmonary circulation. Cardiac lesions that increase pulmonary blood flow often occur clinically with signs and symptoms of congestive heart failure, including hepatomegaly, tachycardia, diaphoresis, and feeding difficulties. However, in the neonatal period, pulmonary vascular resistance often remains elevated, decreasing the pulmonary blood flow and, therefore, severity of symptoms. Cardiac lesions that reduce pulmonary blood flow often manifest early in life with clinical signs and symptoms of cyanosis, tachypnea, and acidosis. Finally, cardiac lesions that result in isolated pulmonary blood flow manifest immediately in the neonatal period, with profound cyanosis and acidosis. In all three groups of cardiac anomalies, critical care nurses play a key role in the control of pulmonary vascular resistance and blood flow by collaborating in therapies designed to increase, decrease, or promote mixing to reduce morbidity and mortality.
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PMID:Perioperative management of pulmonary circulation in children with congenital cardiac defects. 778 Aug 40

In a prospective study, we investigated whether human immunodeficiency virus (HIV) infection alters the clinical presentation in patients with tuberculous pleuritis. One hundred twelve of 118 patients who presented with pleural effusion suffered from tuberculosis (TB); 65 patients (58%) were HIV seropositive. Evidence of disseminated TB was found more often in HIV-positive than in HIV-negative patients (30.8% vs 10.6%, p < 0.02). Dyspnea, fever, night sweat, fatigue, and diarrhea, severe tachypnea, hepatomegaly, splenomegaly, and lymphadenopathy were significantly more common in HIV-infected than in HIV-negative patients with TB. The same applied to a negative Mantoux reaction, lower hemoglobin, higher beta 2-microglobulin values, and in pleural fluid, lower albumin and higher gamma-globulin levels. Among HIV-infected patients, PPD skin test anergy was significantly associated with relative low albumin and gamma-globulin levels of pleural fluid. However, the radiographic features did not differ with respect to HIV status; they were predominantly those of primary pleuritis (78% in each group). We conclude that coexisting HIV infection affects clinical and laboratory features, but not the radiographic presentation of patients with TB pleuritis in Tanzania.
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PMID:Clinical features of HIV-seropositive and HIV-seronegative patients with tuberculous pleural effusion in Dar es Salaam, Tanzania. 795 5


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