Clinical case of congenital myopathy (Pompe disease) in a child

Written by Paramzina L.A., Markhaeva B.B.

  UDK: 616.74–009.54–056.7:612.398.145.1 | DOI: 10.17238/PmJ1609-1175.2019.1.93–94  Pages: 93–94 | Full text PDF | Open PDF 


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.

Links to authors:

L.A. Paramzina, B.B. Markhaeva
Regional Children’s Hospital (311 Lenina St. Yuzhno-Sakhalinsk 693006 Russian Federation)

1. Kotlukova N.P., Mikhailova S.V., Bukina T.M., Zakharova E.Yu. Infantile Pompe disease: Clinical picture, diagnosis, and treatment // Neuromuscular Diseases. 2012. No. 4. Р. 66–73.
2. Nikitin S.S., Kovalchuk M.O., Zakharova E.Yu., Tsivileva V.V. Late Pompe disease: The first clinical description in Russia // Neuromuscular Diseases. 2014. No. 1. Р. 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.


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