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Infantile-onset pompe disease: a tale of two cases

Part of: Metabolic

Published online by Cambridge University Press:  27 January 2020

Drishti Tolani ,
Neha Bansal Open the ORCID record for Neha Bansal [Opens in a new window]  and
Swati Sehgal
Drishti Tolani
Affiliation:
Division of Pediatric Cardiology, The Children’s Hospital of Michigan, Detroit, MI, USA
Neha Bansal*
Affiliation:
Division of Pediatric Cardiology, Children’s Hospital at Montefiore, Bronx, NY, USA
Swati Sehgal
Affiliation:
Division of Pediatric Cardiology, The Children’s Hospital of Michigan, Detroit, MI, USA
*
Author for correspondence: Neha Bansal, Division of Pediatric Cardiology, Children’s Hospital at Montefiore, 3415 Bainbridge Ave- R1, Bronx, NY10467, USA. Tel: 718-741-2313; Fax: (718) 920-4351; E-mail: [email protected]
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Abstract

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.

Keywords

Infantile Pompe diseasebiventricular hypertrophyenzyme replacement therapy
Type
Brief Report
Information
Cardiology in the Young , Volume 30 , Issue 2 , February 2020 , pp. 275 - 277
Copyright
© Cambridge University Press 2020

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