CLINICAL CASE OF CONGENITAL MYOPATHY (POMPE DISEASE) IN A CHILD
https://doi.org/10.17238/PmJ1609-1175.2019.1.93-94
Abstract
Pompe disease (type 2 glycogenosis) is a rare hereditary disease with autosomal recessive inheritance mechanism associated with systemic damage to muscle and nerve cells with a lack of acidic alpha-glucosidase in the body, which is necessary for the decomposition of glycogen. Diagnosis of Pompe disease was confirmed only after medical and genetic study in the presented clinical observation. The child is received pathogenetic therapy.
About the Authors
L. A. Paramzina
Regional Children's Hospital
Russian Federation
Russian Federation
B. B. Markhaeva
Regional Children's Hospital
Russian Federation
Russian Federation
References
1. Котлукова Н.П. Михайлова С.В., Букина Т.М., Захарова Е.Ю. Младенческая форма болезни Помпе: клиника, диагностика и лечение // Нервно-мышечные болезни. 2012. № 4. С. 66-73.
2. Никитин С.С., Ковальчук М.О., Захарова Е.Ю., Цивилева В.В. Болезнь Помпе с поздним началом: первое клиническое описание в России // Нервно-мышечные болезни. 2014. № 1. С. 62-68.
3. Winkel L.P., Van den Hout J.M., Kamphoven J.H. [et al.]. Enzyme replacement therapy in late-onset Pompe>s disease: a three-year follow-up // Ann. Neurol. 2004. Vol. 55, No. 4. Р. 495-502.
Review
For citations:
Paramzina L.A., Markhaeva B.B. CLINICAL CASE OF CONGENITAL MYOPATHY (POMPE DISEASE) IN A CHILD. Pacific Medical Journal. 2019;(1):93-94. (In Russ.) https://doi.org/10.17238/PmJ1609-1175.2019.1.93-94
Views:
539
Email this article 