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Hypertransaminasemia and fatal lung disease: a case report

Francesca Santamaria*, Sara De Stefano, Silvia Montella, Marco Maglione, Roberto Della Casa, Emma Acampora, Claudio Pignata, Mariacarolina Salerno and Giancarlo Parenti

Author Affiliations

Department of Pediatrics, Federico II University, Naples, Italy

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Italian Journal of Pediatrics 2013, 39:9  doi:10.1186/1824-7288-39-9

Published: 7 February 2013


Glycogenosis type II (Pompe disease) is a rare autosomal recessive genetic disorder caused by mutations in the gene encoding the lysosomal enzyme acid α-glucosidase. The classic form is characterized by severe cardiac involvement, generalized hypotonia and exitus early in life. Presenting symptoms and signs of the disease may be neglected or underestimated, thus delaying the diagnosis. Respiratory manifestations mainly occur because of respiratory muscle weakness. However, additional mechanisms can favor the development of pulmonary complications that result in fatal respiratory failure. We herein describe a case of an infant with glycogenosis type II presenting with hepatomegaly and hypertransaminasemia, who rapidly developed fatal lung disease.

Pompe disease; Cardiomegaly; Atelectasis; Respiratory failure