Resumo

ARIAS, Sara; GOMEZ, Mariana; FERNANDEZ, Isabel  e  CELIS, Luis Gustavo. Disease Pompe: report of case. Nova [online]. 2016, vol.14, n.25, pp.113-120. ISSN 1794-2470.

Objective. It is a case of a seven months male patient, evaluated by cardiology fifteen days after he was born secondary, to sudden cardiac death of his sister of four months, nothing suspicious despite consanguinity of parents and early diagnosis of the patient with Cardiomyopathy. Evolved with the following clinical conditions recurrent respiratory infections from three months (recurrent bronchiolitis), widespread malnutrition and recent pneumonia. Died eight days after the consultation with the geneticist. Methods. The initial approach was to perform echocardiogram at fifteen days old, because of history of the sudden death of his sister of four months, cardiomegaly and parental consanguinity. Clinical deterioration continues through months so he is referred to genetic, enzymatic tests, taken in dried blood, the patient dies before receiving the diagnosis of Pompe disease. Results. The patient was focused with a possible diagnosis ofPompe Disease so lysosomal enzyme α-glucosidase (GAA) sample was requested in dried blood and genetic sequencing final report to define diagnosis.

Palavras-chave : Pompe disease; GAA (α-1.4 lysosomal glucosidase (acid maltase); consanguinity; cardio-myopathy; hypotonia.

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