1 40 1 Text A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text. Citation List Month Backlog URL Address <a href="http://doi.org/10.1016/s0022-3476(05)81695-6" target="_blank" rel="noreferrer">http://doi.org/10.1016/s0022-3476(05)81695-6</a> Dublin Core The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/. Title A name given to the resource Niemann-Pick disease type C: diagnosis and outcome in children, with particular reference to liver disease Publisher An entity responsible for making the resource available The Journal Of Pediatrics Date A point or period of time associated with an event in the lifecycle of the resource 1993 Subject The topic of the resource Child; Female; Humans; Male; Prognosis; Age Factors; Biopsy; Preschool; infant; Q3 Literature Search; retrospective studies; Splenomegaly/etiology; Liver/pathology; Liver Function Tests; Developmental Disabilities/etiology; Kupffer Cells/pathology; Liver Diseases/diagnosis/etiology/mortality; Niemann-Pick Diseases/complications/diagnosis/mortality Creator An entity primarily responsible for making the resource Kelly DA; Portmann B; Mowat AP; Sherlock S; Lake BD Description An account of the resource The records of 52 children with Niemann-Pick disease type C were reviewed to establish whether the disease process and outcome varied with the initial clinical pattern; 34 children (65%) had cholestatic liver disease and hepatosplenomegaly in infancy; 18 were seen at a mean age of 4 years with splenomegaly or neurologic disease or both. Of the 34 children with early cholestatic liver disease, three died in the neonatal period; cholestasis and hepatomegaly subsided in the remaining 31 children, although splenomegaly persisted. Of these 31 children, 15 had persistent liver disease with elevated aminotransferase values. Serial liver biopsy specimens showed that 3 of the 15 children had normal architecture and 12 had hepatic fibrosis, with progression to cirrhosis in 5. No other significant morbidity or additional deaths were associated with the liver disease. The clinical importance of persistent liver disease was overshadowed by the subsequent development of severe neurologic disease. There was no difference in the age at onset of the disease (mean, 4.5 years) or in the pattern of neurologic disease, including supranuclear ophthalmoplegia, whether or not the child had early liver disease. Overt neurologic disease has not yet developed in seven surviving children with liver disease at onset. Sixty-seven percent of children died during the study; the main cause of death was bronchopneumonia. We conclude that the diagnosis of Niemann-Pick disease type C should be considered in patients with unexplained neonatal hepatitis, especially if splenomegaly is a persistent feature. Because liver biopsy specimens may not demonstrate storage cells, bone marrow aspiration to detect the characteristic storage cells is recommended in such patients. 1993 Identifier An unambiguous reference to the resource within a given context <a href="http://doi.org/10.1016/s0022-3476(05)81695-6" target="_blank" rel="noreferrer">10.1016/s0022-3476(05)81695-6</a> Rights Information about rights held in and over the resource Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s). Type The nature or genre of the resource Journal Article 1993 Age Factors Backlog Biopsy Child Developmental Disabilities/etiology Female Humans Infant Journal Article Kelly DA Kupffer Cells/pathology Lake BD Liver Diseases/diagnosis/etiology/mortality Liver Function Tests Liver/pathology Male Mowat AP Niemann-Pick Diseases/complications/diagnosis/mortality Portmann B Preschool Prognosis Q3 Scoping Review Results Retrospective Studies Sherlock S Splenomegaly/etiology The Journal Of Pediatrics