Abstract
The natural history of some recently described rare paediatric diseases is still unknown, as in the case of four children with a novel glycosylation (CDG) congenital disorder and a predominant liver disease, reported by Mandato et al. (Pediatr Res 2006;59(2):293–8). They described children presenting with hypertransaminasemia, hypercholesterolaemia, CPK alteration, a low ceruloplasmine value and a high liver copper content. Herein a case report of a 32-year-old asymptomatic young man, investigated for a 21-year history of an unexplained increase in serum transaminases is reported.
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
