A rare presentation of childhood pompe disease: cardiac involvement provoked by Epstein-Barr virus infection

Pediatrics
Melle D TalsmaKlary E Niezen

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.

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Citations

Sep 1, 2005·Journal of Neurology·Léon P F WinkelAns T van der Ploeg
Oct 14, 2011·Indian Pediatrics·Kyriaki Papadopoulou-LegbelouGeorge Varlamis
Jun 28, 2011·European Heart Journal·Heinz-Peter SchultheissLeslie T Cooper
Sep 28, 2010·Heart Failure Clinics·Uwe Kühl, Heinz-Peter Schultheiss
Oct 22, 2008·Lancet·Ans T van der Ploeg, Arnold J J Reuser
Jun 7, 2008·Reproductive Toxicology·Meytal AvgilAsher Ornoy
May 18, 2004·Neuromuscular Disorders : NMD·Marian A KroosRudolf Korinthenberg
Oct 4, 2016·Neuromuscular Disorders : NMD·Yim Pui ChuChloe Miu Mak
Nov 8, 2016·Journal of Cardiovascular Development and Disease·Inês Teixeira Farinha, Joana Oliveira Miranda

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