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)

Type I dyserythropoietic anaemia was diagnosed in an infant, who presented with respiratory distress and hepatosplenomegaly soon after birth. Anaemia became manifest during the neonatal period. The case clearly proves the congenital nature of the disease. Abnormalities of the myelopoietic series indicate that it might be a stem cell disease and the presence of skeletal anomalies of the hands suggests a genetic relationship to some cases of Fanconi and Diamond anaemia. No serum lipid or vitamin E deficiency was present as in type II congenital dyserythropoietic anaemia. Serial serum ferritin determinations indicated that iron stores are increased early in type I congenital dyserythropoietic anaemia despite no transfusion load.
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PMID:Type I congenital dyserythropoietic anaemia with myelopoietic abnormalities and hand malformations. 69 20

The causes of all perinatal deaths at Mpilo Maternity Hospital were investigated over a 12-month period, during which there were a total of 466 stillbirths and 379 neonatal deaths, with a perinatal mortality rate of 36.0/1000 births in Bulawayo, Zimbabwe. The causes of death were in order of importance; congenital syphilis (20.5 pc), birth asphyxia (18.8 pc), unexplained stillbirths (11.8 pc), hyaline membrane disease (11.5 pc) neonatal septicaemia (10.8 pc), congenital malformations (7.7 pc), pregnancy induced hypertension (5.4 pc), placental abruption (4.9 pc), congenital infection (2.2 pc) and other causes (6.4 pc). Eleven pc of mothers booking in antenatal clinics had positive syphilis serology. Most were successfully treated. But over 400 mothers with early syphilis escaped treatment usually because they booked late or failed to book at all at antenatal clinics (74 pc) and occasionally because they had false negative results or were infected after early booking (27 pc). They delivered 101 stillbirths, most of whom died prematurely before labour and often had abdominal distension. There were 72 neonatal deaths, most of whom were preterm babies with respiratory distress and often hepatosplenomegaly. One half of the deaths from asphyxia were caused by prolonged obstructed labour and one quarter by prolapsed cord, stuck head in breech delivery and retained second twin. The incidence of both early and late onset neonatal septicaemia was very high with Group B Streptococci, Kliebsiella and Staphylococcus aureus the predominant pathogens. Improved antenatal, intrapartum and neonatal care could substantially reduce the perinatal mortality rate by preventing congenital syphilis and birth asphyxia and by treating hyaline membrane disease and neonatal septicaemia.
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PMID:The causes of perinatal mortality in Bulawayo, Zimbabwe. 147 75

As part of a survey of the causes of perinatal mortality at Mpilo Maternity Hospital, 220 neonatal deaths and the mothers of 221 stillbirths were tested for HIV-1 antibodies. The HIV positive rate in neonatal deaths was 23.6% (95% confidence interval (CI) 18.0 to 29.2%), significantly higher than 15.4% (95% CI 10.6 to 20.1%) in stillbirths. Perinatal deaths from congenital malformations, birth asphyxia, pregnancy induced hypertension, placental abruption, and oFther non-infectious causes had similar low HIV positive rates averaging 8.1% (95% CI 3.9 to 12.3%). Deaths from septicaemia had a significantly greater rate of 39.3% (95% CI 27.0 to 51.6%) and the highest rate of 72.2% (95% CI 51.5 to 92.9%) was found in deaths from congenital infection other than syphilis, indicating that maternal HIV infection predisposes to neonatal septicaemia and congenital infection. Unexplained stillbirths also had a significantly greater rate of 22.4% (95% CI 10.7 to 34.1%), presumably because some died from unrecognised infection. The rate in deaths from congenital syphilis was 17.4% (95% CI 9.6 to 25.2%), indicating a significant but weak association between these two sexually transmitted diseases in Bulawayo. The rate in deaths from hyaline membrane disease was not significantly greater at 15.0% (95% CI 6.0 to 24.0%). By predisposing to infection, maternal HIV infection was estimated to increase the stillbirth rate by 1.6 times and the neonatal mortality rate by 2.7 times. It predisposed equally to early and late onset neonatal septicaemia, but more to infection from streptococci and staphylococci than from Gram negative enterobacteria. HIV positive deaths from congenital infection had respiratory distress and usually intrauterine growth retardation, hepatosplenomegaly, and congenital pneumonia on lung histology.
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PMID:HIV-1 infection and perinatal mortality in Zimbabwe. 159 95

Congenital cutaneous candidiasis (CCC) is a rare disease acquired by an ascending route, liable to affect the offspring of pregnant women suffering from vulvovaginitis. The cutaneous lesions are present at birth or within the first hours of life. Some infants may present with respiratory distress or clinical signs of sepsis during the first 2 days of life. We report four new cases of CCC, three of which presented transient respiratory distress and clinical signs of sepsis with hepatosplenomegaly. The evolution was favourable in all three cases with topical and oral therapy. We emphasize the self-limited character of this disease, although preterm infants may be at risk of systemic spread. Only one infant presented paronychia as a late complication.
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PMID:Congenital cutaneous candidiasis: report of four cases and review of the literature. 204 6

The second case of infantile Niemann-Pick disease was reported in a Thai newborn baby who presented with respiratory distress and hepatosplenomegaly from birth and who succumbed from bronchopneumonia 20 days later. Autopsy examination showed generalized accumulation of foam cells in reticuloendothelial organs. The parenchymal cells of visceral organs as well as neurones in the central nervous system also showed cytoplasmic vacuolization. Electron microscopic study demonstrated characteristic intracytoplasmic electron-lucent membrane-bound bodies. The histologic and ultrastructural findings were similar to those described in the literature.
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PMID:Niemann-Pick disease: a case report. 228 94

A baby with neonatal congenital syphilis who was born prematurely at 33-weeks' gestation with hepatosplenomegaly, ascites and respiratory distress that was evident at birth is presented.
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PMID:Congenital syphilis is with us still. 259 44

A 50 year old man with chronic lymphocytic leukemia (CLL) and extreme hyperleukocytosis (600 x 10(9)/liter) presented with a respiratory distress syndrome, congestive heart failure with cardiomegaly, endotoxic shock and anuria. Examination revealed nodes in all areas and hepatosplenomegaly; laboratory studies showed hypoxemia and a chest X-ray diffuse bilateral alveolar infiltrates. He was treated twice by leukapheresis using a cell separator. This procedure removed 10.1 x 10(10) white blood cells with marked clinical improvement and resolution of air-space diseases over the subsequent 48 hours. Despite this unusual indication for leukapheresis in CLL, this procedure may be of value in treating the leukemic phase of CLL with pulmonary leukostasis.
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PMID:[Therapeutic leukapheresis in a leukostasis syndrome complicating chronic lymphoid leukemia]. 324 94

Blyth and Ockenden [1971] assigned patients with autosomal recessive polycystic kidney disease (ARPCKD) to 4 discrete groups (perinatal, neonatal, infantile, juvenile) on the basis of the age of presentation. They and others speculated that at least 4 genes were responsible for what they considered to be closely related, but different conditions. These views have gained wide but not universal acceptance. Some workers have insisted that the perinatal and neonatal "forms" of ARPCKD differ fundamentally from the juvenile "form." However, others have proposed that ARPCKD-CHF (congenital hepatic fibrosis) and CHF-ARPCKD are manifestations of the same disease with variation of expression in a kindred. We report on a patient who presented at birth (1979) with ARPCKD and respiratory distress. He died at 18 hr. An older sib presented at 16 yr in 1984. She had no symptoms, but her mother wanted reassurance that the daughter did not have a condition similar to that of the deceased sib. Blood pressure was 120/80 mm Hg and there was hepatosplenomegaly. A diagnosis of renal tubular ectasia and CHF was made by ultrasonography, radiologic studies, and a liver biopsy. The evidence from families such as this favors the concept that ARPCKD and CHF presenting as Blyth and Ockenden's perinatal form, and CHF and renal tubular ectasia as their juvenile form, are manifestations of the same genetic disorder, and that the different manifestations are more likely variations in expression than the results of different mutant genes. The manifestations in this family add weight to the growing body of evidence that intrafamilial variability may occur, not only in autosomal dominant conditions, but also in autosomal recessive disorders.
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PMID:Variable expression of autosomal recessive polycystic kidney disease and congenital hepatic fibrosis within a family. 337 7

In the past four months a new syndrome has caused more than 100 deaths in Spain. The most striking feature is a toxic-allergic pneumonopathy with respiratory distress and radiological evidence of interstitial (occasionally alveolar) exudation. Other features are fever, headache, nausea, muscular and abdominal pains, rash, hepatosplenomegaly, and eosinophilia; later, thrombotic phenomena and neurological disorders may appear. The epidemic has been traced to ingestion of rapeseed oil, denatured with aniline and containing acetanilide. The syndrome does not resemble intoxication with aniline or acetanilide, and is provisionally ascribed to "oleoanilide", a product formed by reaction of acetanilide with fatty acids.
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PMID:Toxic-allergic syndrome caused by ingestion of rapeseed oil denatured with aniline. 611 11

During the 4-year period February 1989 to January 1993, 13 premature babies aged 1-21 days and with congenital syphilis were admitted to the National Cheng Kung University Hospital. Of the 13 premature infants, 8 (62%) had unusual desquamation over palms and soles. Bone changes with periosteal reaction and/or metaphyseal dystrophy were observed in 11 cases (85%). Three mothers were diagnosed as being infected during pregnancy; 2 were treated with penicillin. The clinical features of congenital syphilis in premature neonates are somewhat different from those previously reported. Bone changes, hepatosplenomegaly, respiratory distress, skin lesions, especially over the soles and palms, cerebrospinal fluid abnormalities, and jaundice were the major manifestations in our series. In premature infants with these symptoms and signs, congenital syphilis should be considered as one of the differential diagnoses. Once the diagnosis of congenital syphilis is made, adequate penicillin therapy should be given.
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PMID:Congenital syphilis: clinical manifestations in premature infants. 805 14


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