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INFANTILE POMPE'S DISEASE: A CASE REPORT
Last modified: 2014-04-03
Abstract
%%%%%%%%%%%%%Pompe’s disease is a rare, progressive and often fatal glycogen storage disorder. The patology is caused by deficiency of acid alpha-glucosidase (AAG) enzyme activity, that hydrolyzes lysosomal glycogen. The glycogen is primarily accumulated in the lysosomes, which later breakdown and occur cytoplasmatic accumulation causing muscle fibers disruption and contractile dysfunction. There is a range of phenotypes resulting from AAG deficiency, which the most severe presentation is infantile-onset Pompe’s disease. The prevalence is estimated in 1 for 146.000 live births. In this case report the patient is female, 7 months old, with non blood-related parents, with history of severe hypotony observed since she was 2 months old. She was hospitalized three times for pneumonia and dehydration treatment, two of those being in the Intensive Care Unit. During the hospitalization, was observed hypertrophic cardiopathy, hepatomegaly, and macroglossia. There was a suspicion for PompeXCHARXs disease and the material for investigation was collected.. The procedure diagnostic was perfomed and AAG enzyme was deficient with 0,3 µmol/L/h level (reference > or = 3,9 µmol/L/h). The gene sequence of AAG enzyme demonstrated two heterozygous mutations (c.1657C>T p.Q553* and deletion encompassing exon 18). The pacient begun the enzymatic replacing therapy and the proposal treatment it will be once every two weeks. Since the infantile form of PompeXCHARXs disease is rare, the importance of this case is to call attention to hypotonia differential diagnosis and remember that despite rarity, PompeXCHARXs disease must be considered, avoiding the waste of time in introducing treatment.
Keywords
Infantile Pompe's disease; hypotony; AAG (acid alpha-glucosidase) enzyme
References
%%%%%%%%%%%%Swaiman et al. Neurologia Pediátrica,. Princípios e Práticas. 5 ª Edição. China: Elsevier Saunders, 2012. Barkovich AJ; Raybaud C. Pediátrica Neuroimagem. 5 ª Edição. Philadelphia: Wolters Kluwer, 2012.
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