title: An interesting question of Pompe disease. A case report.
abstract: Glycogenosis type II or Pompe disease is an inherited autosomal recessive disorder known in 3 different clinical forms (infantile, juvenile and adult). We report on a case diagnosed as a classic infantile form with the worst outcome of all 3 described, if we had followed and executed a correct and complete diagnostic pathway. A 7 months old female child was admitted for fever and dyspnoea. At chest auscultation weepings and weezings were found; on the cardiac apex a murmur due to mitralic failure was retrieved. The thorax X-ray showed a greatly increased heart shadow with a cardiothoracic index of 0.75. ECG showed high voltages and signs of bilateral ventricular hypertrophy. Cardiac ultrasonography confirmed the presence of a big heart with an enormous swollen left ventricle and a severe mitralic failure. The clinical diagnosis of infantile Pompe disease was confirmed by the almost total absence of cellular acid a-glucosidase activity but we couldn't perform the assay because of the rapid exitus of our patient, which occurred before glycogen storage disease II was suspected. So, we tried to compare our case with others reported in the literature in order to ratify our diagnostic hypothesis. The contribution of genetic counseling practiced on all the couples at risk remains useful every time that a certain diagnosis is made.
authors.affiliation: Department of Paediatrics, University of Palermo, Palermo, Italy. salvoaccomando@hotmail.com
authors.forename: S
authors.initials: S
authors.lastname: Accomando
authors.forename: D
authors.initials: D
authors.lastname: Montaperto
authors.forename: M L
authors.initials: ML
authors.lastname: Fragapane
authors.forename: G M
authors.initials: GM
authors.lastname: Amato
authors.forename: G
authors.initials: G
authors.lastname: Corsello
authors.forename: F
authors.initials: F
authors.lastname: Cappello
authors.forename: E
authors.initials: E
authors.lastname: Maresi
mesh_terms: D005260:Female; D006009:Glycogen Storage Disease Type II / Q000235:genetics / Q000378:metabolism* / Q000473:pathology*; D006801:Humans; D007223:Infant; D008099:Liver / Q000378:metabolism / Q000473:pathology