1/65. Early fatal pontocerebellar hypoplasia in premature twin sisters.We report clinical, neuroradiological and neuropathological findings of monozygotic twin sisters born at 30 weeks' gestation, with pontocerebellar hypoplasia (PCH) similar but not identical to type 2 PCH. They presented with hypertonia, jitteriness, spontaneous and provoked myoclonic jerks (hyperekplexia), apnoeic episodes, and progressive microcephaly. They died at 7 weeks of age from respiratory failure.- - - - - - - - - - ranking = 1keywords = fat (Clic here for more details about this article) |
2/65. Echovirus 7 infection and necrotizing enterocolitis-like symptoms in a premature infant.Echovirus type 7 has been previously recognized as a virulent serotype in the premature neonate. However, reports of fatal disseminated infections have often been perinatally acquired from symptomatic mothers at the time of delivery. Nosocomial outbreaks in full-term and premature infants have been reported from newborn intensive care units; however, deaths attributed to Echovirus 7 in convalescing prematures are rare in the literature. We report the case of a growing premature neonate presenting with an overwhelming sepsis-like syndrome, including symptoms consistent with necrotizing enterocolitis. Despite intensive supportive care including ventilatory support, cardiovascular pharmacotherapy, and blood product administration, the infant succumbed to overwhelming Echovirus 7 infection.- - - - - - - - - - ranking = 0.25keywords = fat (Clic here for more details about this article) |
3/65. Severe congenital myotonic dystrophy and severe anaemia of prematurity in an infant of Jehovah's Witness parents.Severe congenital myotonic dystrophy (CMD) is an autosomal dominant condition characterized by hypotonia and respiratory insufficiency at birth. Terminal outcome has been reported in infants requiring ventilation for longer than 30 days. The case is reported of an infant born at 34 weeks' gestation with severe CMD. Infant survived following ventilatory support from birth until day 67 of life. Subcutaneous erythropoietin (600 units, three times weekly) was commenced on day 6 as the Jehovah's Witness parents were strongly opposed to blood transfusions. Haemoglobin fell to 5.8 g/dL without adverse effects and then progressively rose to 15.4 g/dL. No blood transfusions were necessary. This case illustrates that infants with severe CMD requiring ventilation for more than 30 days do not have a universally fatal outcome. Low haemoglobin was well tolerated which calls for re-examination of the indications for blood transfusions in ventilated neonates.- - - - - - - - - - ranking = 0.25keywords = fat (Clic here for more details about this article) |
4/65. Combination thrombolytic and anticoagulant therapy for bilateral renal vein thrombosis in a premature infant.We report a premature infant with bilateral renal vein thrombosis and renal failure at 1 month of age who underwent treatment with recombinant tissue plasminogen activator and heparin sulfate. Combination thrombolytic and anticoagulation therapy was complicated by an intraventricular and intraparenchymal cerebral hemorrhage without resolution of the renal vein thrombosis. With increasing reports of successful use of this therapy for venous thrombosis, we suggest caution and continued study of its use in the premature infant and newborn.- - - - - - - - - - ranking = 0.25keywords = fat (Clic here for more details about this article) |
5/65. Human cytomegalovirus as a direct pathogen: correlation of multiorgan involvement and cell distribution with clinical and pathological findings in a case of congenital inclusion disease.The human cytomegalovirus (HCMV), a member of the herpesviridae, is the most frequent cause of congenital virus infections and a major cause of morbidity and mortality in immunocompromised patients. Due to the lack of an appropriate animal model, insight into the pathogenesis of HCMV infections originates primarily from in situ examination of HCMV-infected tissues. Although in immunocompromised adults such tests are complicated frequently by the presence of additional misleading pathogens, the absence of additional pathogens renders congenital inclusion disease the most suitable access for investigation of pathogenetic aspects of HCMV infections. Immunohistochemical examination of tissue sections from a boy with fatal congenital inclusion disease was undertaken to detect the extent of multiorgan and cell involvement. Adrenal gland, bone marrow, diencephalon, heart, kidney, liver, lung, pancreas, placenta, small bowel and spleen were included in this study. Detection of virus antigens from different phases of viral replication revealed that all investigated organs were infected by HCMV. Simultaneous detection of cell type specific marker molecules showed that a variety of cell types stained positive for HCMV antigens including endothelial cells, epithelial cells, smooth muscle cells, mesenchymal cells, hepatocytes, monocytes/macrophages and granulocytes. The lung, the pancreas, the kidneys and the liver were the major target organs with a high number of HCMV infected cells. This correlated with multiorgan failure as the cause of death and strongly indicates direct pathogenetic effects of HCMV.- - - - - - - - - - ranking = 0.25keywords = fat (Clic here for more details about this article) |
6/65. Fatal endocarditis in a neonate caused by the dematiaceous fungus Phialemonium obovatum: case report and review of the literature.Phialemonium species are grouped by most authorities among the dematiaceous fungi. Like several other darkly pigmented fungi, they appear to be an emerging cause of human disease, especially in the immunocompromised host. As numbers of immunocompromised patients increase, the trend of unusual fungi emerging as new pathogens is set to continue. Previous experience suggests that reports of rare fungal infections among selected patients often heralds the emergence of infection in a wider population of patients. We report a case of fatal endocarditis caused by Phialemonium obovatum in a premature neonate. To our knowledge this is the first documented case of native valve endocarditis due to this species, and we review the literature on invasive disease caused by the species. Unfamiliar fungal isolates are frequently misidentified or mistaken for environmental contaminants, and because of their relative rarity, data upon which to base antifungal treatment are limited. Thus, the diagnosis and treatment of unusual fungal pathogens present a significant challenge to clinicians and microbiologists alike. Early referral of such isolates to a specialist reference laboratory is advisable.- - - - - - - - - - ranking = 0.25keywords = fat (Clic here for more details about this article) |
7/65. Dehydrated hereditary stomatocytosis with transient perinatal ascites.The case is reported of a mother and baby with dehydrated hereditary stomatocytosis and perinatal ascites, an autosomal dominant condition not previously reported in Britain. Recognition is important for the management of pregnancy and for avoidance of splenectomy which, if performed, can predispose the patient to fatal thromboembolic events.- - - - - - - - - - ranking = 0.25keywords = fat (Clic here for more details about this article) |
8/65. Extensive hepatic necrosis in a premature infant.A fatal case of fulminant hepatic failure that occurred in the neonatal period is reported in a premature infant born after 27 4/7-weeks' gestation. Immediately after birth the infant had severe hypoxia and hypotension resulting from birth asphyxia, hypovolemic shock, and septicemia. At autopsy, histological appearance of the liver showed virtually total hepatocellular necrosis without features of fibrosis. Although the exact cause of hepatocellular injury cannot be fully ascertained, it is assumed that hypoxia and hypotension must have been the predominant factors leading to massive hepatic necrosis.- - - - - - - - - - ranking = 0.25keywords = fat (Clic here for more details about this article) |
9/65. Novel genotype of mevalonic aciduria with fatalities in premature siblings.Mevalonic aciduria is described in two very low birthweight siblings with unspecific clinical signs and recurrent septicaemia. Both died within the first 2 months of life. dna analysis showed a novel mutation in the gene encoding mevalonate kinase.- - - - - - - - - - ranking = 1keywords = fat (Clic here for more details about this article) |
10/65. Transcutaneous implantation of an internal cardioverter defibrillator in a small infant with recurrent myocardial ischemia and cardiac arrest simulating sudden infant death syndrome.This report describes the implantation of a transcutaneous ICD system using a small patch electrode in the subscapular position, and an active-can device in a 5.3-kg infant. The indication for ICD implantation was recurrent cardiac arrest in the presence of normal coronary anatomy. Metabolic evaluation suggested a defect in fatty acid oxidation.- - - - - - - - - - ranking = 0.25keywords = fat (Clic here for more details about this article) |
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