Neuromuscular DiseasesNeuromuscular DiseasesНервно-мышечные болезни2222-87212413-0443Publishing House ABV Press10110.17650/2222-8721-2012-0-4-66-73CLINICAL CASEКЛИНИЧЕСКИЙ РАЗБОРInfantile Pompe disease: Clinical picture, diagnosis, and treatmentМладенческая форма болезни Помпе: клиника, диагностика и лечениеKotlukovaN. P.КотлуковаН. П.
Russian Federation
natali130@yandex.ruMikhailovaS. V.МихайловаС. В.
Russian Federation
BukinaT. M.БукинаТ. М.
Russian Federation
ZakharovaE. Yu.ЗахароваЕ. Ю.
Russian Federation
N.I. Pirogov Russian National Research Medical University, Ministry of Health of RussiaГБОУ ВПО «РНИМУ им. Н.И. Пирогова» Минздрава РоссииRussian Children’s Clinical Hospital, Ministry of Health of RussiaФГБУ РДКБ Минздрава РоссииMedical Genetics Research Center, Russian Academy of Medical Sciences, MoscowФГБУ МГНЦ РАМН, Москва211120122466732102201521022015Copyright ©; 2012, Kotlukova N.P., Mikhailova S.V., Bukina T.M., Zakharova E.Y.Copyright ©; 2012, Котлукова Н.П., Михайлова С.В., Букина Т.М., Захарова Е.Ю.2012Kotlukova N.P., Mikhailova S.V., Bukina T.M., Zakharova E.Y.Котлукова Н.П., Михайлова С.В., Букина Т.М., Захарова Е.Ю.https://creativecommons.org/licenses/by/4.0https://nmb.abvpress.ru/jour/article/view/101

Pompe disease is a rare inherited disease that belongs to lysosomal accumulation diseases and can be considered as cardiac glycogenosistype II, as well as a severe neuromuscular disease or metabolic myopathy. Physicians of different specialties very rarely identify this pathology, which is due to both its rarity and clinical and genetic polymorphism. Infantile Pompe disease is the severest form. It is characterized by a progressive pattern and a fatal outcome during the first year of life. The possibility of performing enzyme replacement therapy for this disease, which can improve the prognosis and quality of life of patients, makes the early diagnosis of Pompe disease urgent. The paper describes the clinical presentation of infantile Pompe disease and current methods for its diagnosis and treatment. The authors give their experience in diagnosing and treating infantile Pompe disease, by demonstrating 3 cases of the disease. The characteristics of each infant, which confirm the clinical and genetic variety of this pathology, are discussed.

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