title: A rare presentation of childhood pompe disease: cardiac involvement provoked by Epstein-Barr virus infection.
abstract: Myocarditis attributed to Epstein-Barr virus (EBV) as the sole cause is a rare manifestation. Myocarditis ascribed to EBV infection in combination with other factors has been reported in a few more cases. We report a child who experienced active EBV infection and later, at 19 months of age, received a diagnosis of Pompe disease (acid alpha-glucosidase deficiency) with predominant cardiac involvement. The cardiac symptoms resolved at the end of the EBV infection. When the patient was recently seen, at 8 years of age, she had an increased left ventricular wall thickness but normal cardiac function. DNA analysis identified this patient as compound heterozygote for a mutant Tyr292Cys and a null allele. In light of genotype-phenotype correlation, it is notable that a Spanish patient with a functionally similar genotype (Tyr292Cys/Arg854Stop) also had childhood Pompe disease with peripheral muscular involvement.
authors.affiliation: Beatrix Children's Hospital, Groningen, The Netherlands. m.d.talsma@bkk.azg.nl
authors.forename: Melle D
authors.initials: MD
authors.lastname: Talsma
authors.forename: Marian A
authors.initials: MA
authors.lastname: Kroos
authors.forename: Gepke
authors.initials: G
authors.lastname: Visser
authors.forename: Jan L L
authors.initials: JL
authors.lastname: Kimpen
authors.forename: Klary E
authors.initials: KE
authors.lastname: Niezen
mesh_terms: D006332:Cardiomegaly / Q000209:etiology; D003937:Diagnosis, Differential; D020031:Epstein-Barr Virus Infections / Q000150:complications* / Q000175:diagnosis*; D005260:Female; D006009:Glycogen Storage Disease Type II / Q000150:complications* / Q000175:diagnosis*; D006801:Humans; D007223:Infant; D009205:Myocarditis / Q000821:virology*