TY - JOUR
T1 - Infantile-onset pompe disease
T2 - A tale of two cases
AU - Tolani, Drishti
AU - Bansal, Neha
AU - Sehgal, Swati
N1 - Publisher Copyright:
© 2020 Cambridge University Press.
PY - 2020
Y1 - 2020
N2 - Pompe disease is a type-II glycogen storage disease, and clinical manifestations include hypertrophic cardiomyopathy and generalised muscular hypotonia. Enzyme replacement therapy has proven to be effective in reversing the ventricular hypertrophy. The outcomes are variable depending on time to diagnosis and severity of the cardiac disease. We describe two contrasting cases of patients with infantile-onset Pompe disease. The first child was diagnosed late and had severe cardiac hypertrophy with respiratory decompensation and ventilator dependence and eventual death. The second case was diagnosed at birth with early initiation of therapy resulting in a good outcome. Our cases highlight the importance of early initiation of enzyme replacement therapy to improve clinical outcomes.
AB - Pompe disease is a type-II glycogen storage disease, and clinical manifestations include hypertrophic cardiomyopathy and generalised muscular hypotonia. Enzyme replacement therapy has proven to be effective in reversing the ventricular hypertrophy. The outcomes are variable depending on time to diagnosis and severity of the cardiac disease. We describe two contrasting cases of patients with infantile-onset Pompe disease. The first child was diagnosed late and had severe cardiac hypertrophy with respiratory decompensation and ventilator dependence and eventual death. The second case was diagnosed at birth with early initiation of therapy resulting in a good outcome. Our cases highlight the importance of early initiation of enzyme replacement therapy to improve clinical outcomes.
KW - Infantile Pompe disease
KW - biventricular hypertrophy
KW - enzyme replacement therapy
UR - http://www.scopus.com/inward/record.url?scp=85078482249&partnerID=8YFLogxK
U2 - 10.1017/S1047951119003160
DO - 10.1017/S1047951119003160
M3 - Article
C2 - 31983366
AN - SCOPUS:85078482249
VL - 30
SP - 275
EP - 277
JO - Cardiology in the Young
JF - Cardiology in the Young
SN - 1047-9511
IS - 2
ER -