Neurol. praxi. 2023;24(6):477-480 | DOI: 10.36290/neu.2023.069

Pompe's disease - when nothing standard applies

MUDr. Viera Holecová1, MUDr. Laura Grossmanová1, MUDr. Ján Kothaj1, MUDr. Martina Martiníková1, MUDr. Anna Hlavatá, PhD., MPH2, doc. MUDr. Robert Vyšehradský, PhD.3, RNDr. Slavomíra Mattošová, PhD.4, MUDr. Pavol Ďurina4
1 II. neurologická klinika SZU, FNsP F. D. Roosevelta, Banská Bystrica
2 Detská klinika LF UK a NÚDCH, Bratislava
3 Klinika pneumológie a ftizeológie JLF UK a UNM, Martin ⁴Ústav lekárskej biológie, genetiky a klinickej genetiky LF UK a UNB, Oddelenie molekulovej a biochemickej genetiky, Nemocnica Staré Mesto, Bratislava

We present the case report of a patient with acute respiratory insufficiency, long-term dependent on artificial pulmonary ventilation with generalized muscle weakness of unclear origin. The patient underwent a series of examinations, which ultimately led to the correct diagnosis and subsequent treatment of Pompe disease despite the non-specific clinical picture and the non-specific result of the first EMG examination and the negativity of muscle enzymes.

Keywords: Pompe disease, alpha glucosidase.

Received: October 22, 2023; Revised: November 10, 2023; Accepted: November 14, 2023; Prepublished online: November 14, 2023; Published: December 7, 2023  Show citation

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Holecová V, Grossmanová L, Kothaj J, Martiníková M, Hlavatá A, Vyšehradský R, et al.. Pompe's disease - when nothing standard applies. Neurol. praxi. 2023;24(6):477-480. doi: 10.36290/neu.2023.069.
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