Open AccessGLYCOGEN STORAGE DISEASE TYPE II: A NARRATIVE LITERATURE REVIEW AND A CASE REPORT OF LATE-ONSET POMPE DISEASE IN A YOUNG WHITE CHILD
Author(s) -
H.V. Palahuta,
O.Yе. Fartushna,
Olha G Selina,
Yevhen M Fartushnyi,
T. Koval
Publication year - 2021
Publication title -
wiadomości lekarskie
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.133
H-Index - 14
eISSN - 2719-342X
pISSN - 0043-5147
DOI - 10.36740/wlek202104141
Subject(s) - disease , presentation (obstetrics) , medicine , pediatrics , etiology , epidemiology , terminology , age of onset , pathology , surgery , philosophy , linguistics
At all ages, skeletal muscle weakness characterizes Pompe disease, causes mobility problems and affects the respiratory system. We aimed to provide a narrative review of terminology, etiology, epidemiology, clinical manifestations, complications, and prognosis of Pompe disease, supported with a clinical case presentation. The clinical manifestation and complications of Pompe disease are illustrated with the clinical case presentation of a late-onset form in a white child. A comprehensive electronic literature search was performed on Ovid, Google Scholar, Scopus, PubMed, Embase, Cochrane Database, and World Health Organization databases to identify the articles that discussed Pompe disease.