title: Unusually difficult clinical presentation of an infant suffering from congenital Cytomegalovirus (CMV) infection combined with alpha 1-antitrypsin (A1AT) deficiency.
abstract: Congenital Cytomegalovirus (CMV) infection and alpha 1-antitrypsin (A1AT) deficiency are separately well described entities, but their simultaneous occurrence can pose a special challenge to a clinician, especially dealing with optimal diagnostic as well as therapeutic approach. Congenital CMV infection is the most common vertically transmitted infection in developed countries. In 85-95% of newborns it runs asymptomatic, while in others it is presented with jaundice, petechias, hepatosplenomegaly and central nervous system damage. A1AT deficiency is on the other hand, the most common genetic liver disease in children, and the clinical spectrum varies from the accidentally detected increased levels of transaminases through to the severe infant cholestasis that can progress to cirrhosis. The following case report describes a two-month old male with severe clinical presentation of congenital CMV infection probably exacerbated due to A1AT deficiency comorbidity. The clinical manifestations and unusually difficult clinical signs this infant presented lead to assumption that the additional liver damage exists. Extensive laboratory analyses were performed, including PCR for CMV DNA, A1AT serum concentration, A1AT genotyping, followed and confirmed with phenotyping. Patient was treated parenteral with ganciclovir, what continued with oral valganciclovir and supportive therapy. Intensive and thorough supportive treatment of the infant resulted in satisfactory progress and excellent outcome. Patient was followed-up till the age of 18 months. The presented case provides excellent example about successful overcoming obstacles in differential diagnosis of A1AT in neonates and infants. Medical charts analysis was the methodology used in making this report.
authors.affiliation: Clinical Unit of Clinical Pharmacology and Toxicology, Clinical Hospital Centre Sestre milosrdnice, Zagreb, Croatia.
authors.forename: Ines
authors.initials: I
authors.lastname: Potočnjak
authors.affiliation: University of Zagreb, School of Medicine, University Hospital for Infectious Diseases, Zagreb, Croatia.
authors.forename: Goran
authors.initials: G
authors.lastname: Tešović
authors.affiliation: University Department of Chemistry, Clinical Hospital Centre Sestre milosrdnice, Zagreb, Croatia.
authors.forename: Andrea Tešija
authors.initials: AT
authors.lastname: Kuna
authors.affiliation: University Department of Chemistry, Clinical Hospital Centre Sestre milosrdnice, Zagreb, Croatia.
authors.forename: Mario
authors.initials: M
authors.lastname: Stefanović
authors.affiliation: Department of Paediatric Gastroenterology and Hepatology, Clinical Hospital Centre Sestre milosrdnice, Zagreb, Croatia.
authors.forename: Orjena
authors.initials: O
authors.lastname: Zaja
mesh_terms: D003586:Cytomegalovirus Infections / Q000150:complications* / Q000151:congenital* / Q000175:diagnosis*; D003937:Diagnosis, Differential; D006801:Humans; D007223:Infant; D008107:Liver Diseases / Q000151:congenital / Q000175:diagnosis; D008297:Male; D019896:alpha 1-Antitrypsin Deficiency / Q000150:complications* / Q000175:diagnosis*
keywords: alpha 1-antitrypsin deficiency; congenital; cytomegalovirus infections; ganciclovir