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Open AccessCase Report

A Newborn Screening, Presymptomatically Identified Infant With Late-Onset Pompe Disease: Case Report, Parental Experience, and Recommendations

by Raymond Y. Wang 1,2,†
Division of Metabolic Disorders, CHOC Children’s Specialists, Orange, CA 92868, USA
Department of Pediatrics, University of California-Irvine School of Medicine, Orange, CA 92868, USA
The parents of the proposita presented firmly state their desire to maintain anonymity. However, they have provided written consent for publication of the proposita’s details and their commentary.
Int. J. Neonatal Screen. 2020, 6(1), 22;
Received: 22 January 2020 / Revised: 29 February 2020 / Accepted: 12 March 2020 / Published: 14 March 2020
(This article belongs to the Special Issue Newborn Screening for Pompe Disease)
Pompe disease is an inherited lysosomal storage disorder caused by acid alpha-glucosidase (GAA) enzyme deficiency, resulting in muscle and neuron intralysosomal glycogen storage. Clinical symptoms vary from the severe, infantile-onset form with hypertrophic cardiomyopathy, gross motor delay, and early death from respiratory insufficiency; to a late-onset form with variable onset of proximal muscle weakness and progressive respiratory insufficiency. Newborn screening programs have been instituted to presymptomatically identify neonates with infantile-onset Pompe disease for early initiation of treatment. However, infants with late-onset Pompe disease are also identified, leaving families and physicians in a state of uncertainty regarding prognosis, necessity, and timing of treatment initiation. This report presents a 31 5/7 weeks’ gestational age premature infant flagged positive for Pompe disease with low dried blood spot GAA activity; sequencing identified biparental c.-32-13T>G/c.29delA GAA variants predicting late-onset Pompe disease. The infant’s parents’ initial reactions to the positive newborn screen, subsequent experience during confirmatory testing, and post-confirmation reflections are also reported. While uncertainties regarding natural history and prognosis of presymptomatically-identified late-onset Pompe disease infants will be elucidated with additional experience, suggestions for education of first-line providers are provided to accurately communicate results and compassionately counsel families regarding anxiety-provoking positive newborn screen results. View Full-Text
Keywords: Pompe disease; late-onset; infantile-onset; newborn screening; presymptomatic; c.-32-13T> G Pompe disease; late-onset; infantile-onset; newborn screening; presymptomatic; c.-32-13T>; G
MDPI and ACS Style

Wang, R.Y. A Newborn Screening, Presymptomatically Identified Infant With Late-Onset Pompe Disease: Case Report, Parental Experience, and Recommendations. Int. J. Neonatal Screen. 2020, 6, 22.

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