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)80736-x" target="_blank" rel="noreferrer">http://doi.org/10.1016/s0022-3476(05)80736-x</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 Liver involvement in Alpers 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 1991 Subject The topic of the resource Child; Female; Humans; Male; Biopsy; Preschool; Syndrome; infant; Q3 Literature Search; Brain/pathology; Liver Function Tests; Diffuse Cerebral Sclerosis of Schilder/diagnosis/metabolism/pathology; Liver/metabolism/pathology; Status Epilepticus/diagnosis/metabolism/pathology Creator An entity primarily responsible for making the resource Narkewicz MR; Sokol RJ; Beckwith B; Sondheimer J; Silverman A Description An account of the resource Alpers disease consists of diffuse cerebral degeneration manifested as developmental delay, seizures, vomiting, and progressive neuromuscular deterioration, with liver disease and death. We report the clinical course of the liver disease, histologic progression of the hepatic lesions, and etiologic investigations in five patients (four girls, three kinships). All had grown and developed normally until seen at 6 to 36 months of age (mean 20 months), with vomiting (n = 5), progressive hypotonia (n = 3), or seizures (n = 2). All had been given anticonvulsants, including valproic acid in three. Liver disease was noted at a mean age of 35 months (range 9 to 67 months), with hepatomegaly (two patients), abnormal hepatic synthetic function (three) or transaminase values (three), and cirrhosis in one. Patients survived for a mean of 4.6 weeks (range 1 to 8 weeks) after the identification of liver disease; all died of hepatic failure. Results of evaluation for infectious and metabolic causes of liver disease and causes of degenerative neuromuscular disease were negative in all patients. Premortem liver biopsy specimens (n = 3) demonstrated an early lesion consisting of lobular disarray, microvesicular steatosis, periportal acute and chronic inflammation, and individual hepatocyte necrosis. Autopsy findings (n = 5) consisted of macrovesicular steatosis, massive hepatocyte dropout, and proliferation of bile ductular elements, with almost complete replacement of hepatocytes by proliferating bile ductular elements in two patients. Brain showed characteristic neuronal degeneration. We conclude that Alpers disease can be a cause of rapidly progressive liver failure in early childhood. Although the cause of this autosomal recessive disease is not known, it does not appear to be related to peroxisomal dysfunction. 1991 Identifier An unambiguous reference to the resource within a given context <a href="http://doi.org/10.1016/s0022-3476(05)80736-x" target="_blank" rel="noreferrer">10.1016/s0022-3476(05)80736-x</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 1991 Backlog Beckwith B Biopsy Brain/pathology Child Diffuse Cerebral Sclerosis of Schilder/diagnosis/metabolism/pathology Female Humans Infant Journal Article Liver Function Tests Liver/metabolism/pathology Male Narkewicz MR Preschool Q3 Scoping Review Results Silverman A Sokol RJ Sondheimer J Status Epilepticus/diagnosis/metabolism/pathology Syndrome The Journal Of Pediatrics