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)

A 10-month-old male infant had keratosis follicularis spinulosa decalvans, an X-linked dominant disorder. His cutaneous abnormalities consisted of generalized hyperkeratosis, spiny follicular papular lesions, universal alopecia, and hypoplastic nails. Ocular changes characteristic of the disease were also present. Unusual findings included deafness, failure to thrive, predisposition to bacterial infections without demonstrable immune defect, and transient hepatomegaly with abnormal liver function studies.
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PMID:Keratosis follicularis spinulosa decalvans. An infant with failure to thrive, deafness, and recurrent infections. 64 99

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

A 6-month-old girl was seen because of multiple cutaneous hemangiomas, hepatomegaly, and failure to thrive. A liver scan with technetium Tc 99m sulfur colloid showed two filling defects in the left lobe. Diffuse nodular hepatic lesions characteristic of hemangioendotheliomas were disclosed by celiac angiography and confirmed by biopsy. Congestive heart failure, present in many infants with this syndrome, was not manifest. Prednisone was administered, 2 mg/kg, on alternate days. Liver size and cutaneous hamangiomas promptly regressed in size and "catch up" linear growth occurred during six months of treatment. Congestive heart failure did not develop. Sixteen months after treatment, liver size and a second hepatic scan were normal.
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PMID:Hepatic hemangioendothelioma. Angiographic appearance and apparent prednisone responsiveness. 83 25

Three children displaying hypotonia, cardiac involvement and defects of the mitochondrial respiratory chain complexes are reported. The first case showed severe neonatal hypotonia, failure to thrive, hepatomegaly, dilation of the right cardiac cavities, profound lactic acidosis and amino aciduria. The boy died at the age of 7 weeks. In the second case hypotonia, severe cardiomyopathy, cyclic neutropenia, lactic acidosis and 3-methylglutaconic aciduria occurred. The boy died at the age of 27 months. The third case presented at the age of 16 months as an acute hypokinetic hypertrophic cardiomyopathy with transient hypotonia and mild lactic acidosis. Spontaneous clinical remission occurred. In all cases muscle biopsy was performed. Morphological studies failed to show ragged-red fibers but there was lipid storage myopathy and decreased cytochrome c oxidase activity. Biochemical studies confirmed the cytochrome c oxidase deficiency in muscle in all cases. It was associated with complex I III deficiency in case 1 and with severe deficits of all respiratory chain complexes in case 2. Post-mortem studies in case 1 indicated that complex IV was reduced in the liver but not in the heart and quantitative analysis of mtDNA revealed a depletion in muscle. Cases 1 and 2 shared some clinical features with fatal infantile myopathy associated with cytochrome c oxidase deficiency, while case 3 displayed a very unusual clinical presentation. The histochemical enzyme reaction of cytochrome c oxidase is useful for the diagnosis of mitochondrial myopathy because ragged-red fibers may be lacking. Finally, biochemical measurement of the different mitochondrial respiratory chain complexes is required because multiple defects are frequent and occasionally related to mtDNA depletion.
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PMID:Defects of the mitochondrial respiratory chain complexes in three pediatric cases with hypotonia and cardiac involvement. 132 Jun 61

By the end of 1990, 51 symptomatic children with perinatally acquired HIV infection had been admitted to Baragwanath Hospital. Of 42 children who were followed up for at least 3 months, 15 (35.7%) died and 16 (38.1%) were lost to follow-up. The case fatality rate for these children lies between 35.7% and 73.8%. Most children became symptomatic before the age of 6 months and presenting features seen in over 70% of cases included lymphadenopathy, failure to thrive and hepatomegaly. Surviving children had recurrent admissions to hospital, predominantly for respiratory distress. Many had bacterial pneumonias. Cardiac involvement (cardiomyopathy and cor pulmonale), recurrent serious bacterial infections and neurodevelopmental abnormalities were common. Our experience confirms that vertically acquired HIV infection has a relatively short incubation period and progresses rapidly with cardiorespiratory symptoms predominating. Five HIV seroprevalence studies have been conducted in pregnant women attending Baragwanath Hospital and the Soweto clinics since 1988. The calculated doubling time is between 7 and 21 months. At the end of 1990 the HIV seroprevalence rate in pregnant women was 0.82% (95% confidence limits 0.44-1.19%).
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PMID:AIDS--the Baragwanath experience. Part II. HIV infection in pregnancy and childhood. 150 37

Galactosemia in newborns and infants is associated with the following symptoms: jaundice, hepatomegaly, failure to thrive, feeding difficulties, hypoglycemia, convulsions, lethargy, amino-aciduria, cataracts, hepatic cirrhosis, ascites, and mental retardation. If the preliminary evaluation indicates galactosemia, there is high risk for E. coli sepsis and death. Strong consideration should therefore be given for early antibiotic therapy in infants with suspected galactosemia in spite of the absence of clinical signs or symptoms of sepsis.
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PMID:Association of Escherichia coli sepsis and galactosemia in neonates. 156 28

Congenital hepatic fibrosis (CHF) is a recognized cause of portal hypertension with oesophageal varices, gastro-intestinal haemorrhage and cholangitis in children without significant impairment of hepatic or renal function. This report describes the varied clinical presentation of CHF as seen at King Faisal Specialist Hospital and Research Centre (KFSH & RC) and emphasizes the clinical patterns that should enable a pediatrician to consider the diagnosis. Fourteen children with CHF were diagnosed between 1981 and 1988. The age at presentation ranged from 1.8-14 years (mean: 7.5 years); clinical manifestations at diagnosis were splenomegaly (12), hepatomegaly (11), failure to thrive (10), marked abdominal distention (4), and fever (4). Liver function tests were normal except for high alkaline phosphatase. Eight patients had polycystic kidneys confirmed on ultrasound examination. Upper gastro-intestinal endoscopy showed oesophageal varices of variable severity in all eight patients examined. Splenoportography revealed splenic vein occlusion in one patient. One patient died within days of admission with convulsions, coma, and aspiration pneumonia. One patient was lost to follow-up. The remaining 12 patients are all alive and receive regular follow-up. Two patients required splenorenal shunt. In view of the prevalence of consanguinity in Saudi Arabia, the diagnosis of CHF should be considered in children with hepatomegaly despite normal liver function tests, and particularly in those with renal abnormalities and/or evidence of portal hypertension.
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PMID:Congenital hepatic fibrosis in Saudi Arabia. 178 58

We report on the history, the diagnostic, and the operative procedure in an infant with congenital stenosis of all pulmonary veins. First symptoms such as failure to thrive, tachydyspnea, tachycardia and hepatomegaly occurred in the eighth week of life. Electrocardiography, 2-dimensional echocardiography and radiography of the chest were unspecific. After recurrent episodes of pulmonary oedema cardiac catheterization was performed: bilaterally elevated pulmonary artery wedge pressure and a normal left atrial pressure proved pulmonary venous obstruction. Severe stenosis of all pulmonary veins was apparent cineangiographically only by selective injections into the right and left pulmonary artery branches in wedge position. The operation (excision of the stenotic area and reimplantation using autologous pericardium) was unsuccessful as in most cases described in the literature. Congenital stenosis of all pulmonary veins is a rapidly progressive malformation. Death occurs usually in the first year of life with and without operation.
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PMID:[Congenital pulmonary vein stenosis as a rare cause of pulmonary hypertension]. 185 45

Failure to thrive may not be a result of organ disease, physical abuse, or intentional neglect. We describe an infant who developed kwashiorkor with a high-fat, low-protein, nondairy coffee creamer diet. The elimination diet was administered on the advice of a family friend for a facial rash. The child presented at 10 months of age with decreased weight for height, rash, hepatomegaly, edema, hypoproteinemia, hypoalbuminemia, anemia, hypoglycemia, and evidence of hepatic sequestration of lipids. A rapid recovery of biochemical abnormalities was evident on reinstitution of a full diet. An intellectual assessment at age 5 years showed normal results.
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PMID:Nondairy-creamer-induced kwashiorkor: 5-year follow-up. 186 86

The predominantly heterosexual transmission of human immunodeficiency virus (HIV) in Africa suggests that pediatric acquired immunodeficiency syndrome (AIDS) could develop into a significant child health problem in this region. To assist clinicians in recognizing HIV infection in African children, the clinical features of 185 children with symptomatic HIV-related disease diagnosed at the 2 central hospitals in Harare, Zimbabwe, from April 1986-July 1987 were enumerated. In this period, 185 such cases were diagnosed. 83 (47%) involved children 0-12 months of age and another 61 (35%) represented children 13-24 months old. The male/female ratio was 1.0:1.03. The most frequently recorded clinical feature (52% of cases) was generalized lymphadenopathy, with or without hepatosplenomegaly. 45% of HIV-infected children presented with respiratory symptoms and pulmonary infiltrates on chest x-ray. Failure to thrive was present in 38% of cases. Also relatively common were hepatomegaly and splenomegaly (35% and 26%, respectively). Chronic, recurrent diarrhea was present in 21%. Less frequently observed (under 10% of cases) clinical findings were maculopapular eczematoid rashes, parotid swelling, chronic suppurative otitis media, chronic mucopurulent rhinitis, meningitis, and encephalopathy. 3 main clinical modes of presentation were identified--children with failure to thrive or marasmus in association with chronic diarrhea and developmental delay, those with generalized lymphadenopathy and hepatosplenomegaly, and children who present with chronic cough with pulmonary infiltrates on chest x-ray.
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PMID:Clinical presentation of symptomatic human immuno-deficiency virus in children. 226 23


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