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Title: Rare case of type II glycogen storage disease
Authors: Nagorniy, V. A.
Trunova, R. B.
Mukhina, T. S.
Khabibullin, R. R.
Tverskoi, A. V.
Keywords: medicine
type II glycogenosis
glycogen storage disease
Pompe disease
Issue Date: 2015
Citation: Rare case of type II glycogen storage disease / V. A. Nagorniy [и др.] // Научный результат. Сер. Медицина и фармация. - 2015. - Т.1, №3(5).-С. 112-117. - doi: 10.18413/2313-8955-2015-112-117.
Abstract: The article presents information about a rare case of Pompe disease. It is a glycogen storage disease. During the third screening of a pregnant woman, the ultrasonography of the fetus’s heart revealed the myocardial hypertrophy of the left ventricle perceived as posthypoxic. After delivery, the newborn underwent the ultrasound examination and molecular genetic studies. Firstly, the hepatomegaly and cardiomegaly were diagnosed. Then an infantile form of Pompe disease was found. The patient got enzyme replacement therapy without positive result. The death occurred at the age of 2 years and 5 months as a result of cardiovascular disease failure. Macroscopically, the sizes of the internal organs were increased. The microscopic examination demonstrated glycogen deposition in the myocardium, skeletal muscles, mucous membranes of the organs of the gastrointestinal tract, liver, kidney, spleen and adrenal glands
Appears in Collections:Научный результат. Сер. Медицина и фармация

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