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Non-specificity of symptoms in infantile-onset Pompe disease may delay the diagnosis and institution of treatment

Pompe disease is an autosomal-recessive inherited disorder of glycogen metabolism due to lysosomal acid alpha-glucosidase deficiency. The infantile-onset form is rapidly fatal if left untreated and presents with respiratory symptoms, a typical encounter during infancy. We discuss two infants present...

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Autores principales: Senarathne, Udara Dilrukshi, Jasinge, Eresha, Viknarajah Mohan, Sarojini, Waidyanatha, Samantha
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8915381/
https://www.ncbi.nlm.nih.gov/pubmed/35264382
http://dx.doi.org/10.1136/bcr-2021-247312
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author Senarathne, Udara Dilrukshi
Jasinge, Eresha
Viknarajah Mohan, Sarojini
Waidyanatha, Samantha
author_facet Senarathne, Udara Dilrukshi
Jasinge, Eresha
Viknarajah Mohan, Sarojini
Waidyanatha, Samantha
author_sort Senarathne, Udara Dilrukshi
collection PubMed
description Pompe disease is an autosomal-recessive inherited disorder of glycogen metabolism due to lysosomal acid alpha-glucosidase deficiency. The infantile-onset form is rapidly fatal if left untreated and presents with respiratory symptoms, a typical encounter during infancy. We discuss two infants presenting with respiratory symptoms since early infancy and found to have cardiomegaly, hypotonia, elevated muscle enzymes, leading to the diagnosis of Pompe disease with genetic confirmation. However, both infants expired before the enzyme replacement therapy due to complications of irreversible muscle damage despite supportive medical care. Presentation with respiratory symptoms common during childhood, absence of alarming symptoms such as hypoglycaemia, ketoacidosis or encephalopathy, and relative rarity of Pompe disease can contribute to lapses in the early diagnosis as observed in the index patients. Thus, these cases emphasise the importance of vigilant assessment of common paediatric presentations, which may be presenting symptoms of underlying sinister pathologies.
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spelling pubmed-89153812022-03-25 Non-specificity of symptoms in infantile-onset Pompe disease may delay the diagnosis and institution of treatment Senarathne, Udara Dilrukshi Jasinge, Eresha Viknarajah Mohan, Sarojini Waidyanatha, Samantha BMJ Case Rep Case Reports: Reminder of important clinical lesson Pompe disease is an autosomal-recessive inherited disorder of glycogen metabolism due to lysosomal acid alpha-glucosidase deficiency. The infantile-onset form is rapidly fatal if left untreated and presents with respiratory symptoms, a typical encounter during infancy. We discuss two infants presenting with respiratory symptoms since early infancy and found to have cardiomegaly, hypotonia, elevated muscle enzymes, leading to the diagnosis of Pompe disease with genetic confirmation. However, both infants expired before the enzyme replacement therapy due to complications of irreversible muscle damage despite supportive medical care. Presentation with respiratory symptoms common during childhood, absence of alarming symptoms such as hypoglycaemia, ketoacidosis or encephalopathy, and relative rarity of Pompe disease can contribute to lapses in the early diagnosis as observed in the index patients. Thus, these cases emphasise the importance of vigilant assessment of common paediatric presentations, which may be presenting symptoms of underlying sinister pathologies. BMJ Publishing Group 2022-03-09 /pmc/articles/PMC8915381/ /pubmed/35264382 http://dx.doi.org/10.1136/bcr-2021-247312 Text en © BMJ Publishing Group Limited 2022. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. https://creativecommons.org/licenses/by-nc/4.0/This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/ (https://creativecommons.org/licenses/by-nc/4.0/) .
spellingShingle Case Reports: Reminder of important clinical lesson
Senarathne, Udara Dilrukshi
Jasinge, Eresha
Viknarajah Mohan, Sarojini
Waidyanatha, Samantha
Non-specificity of symptoms in infantile-onset Pompe disease may delay the diagnosis and institution of treatment
title Non-specificity of symptoms in infantile-onset Pompe disease may delay the diagnosis and institution of treatment
title_full Non-specificity of symptoms in infantile-onset Pompe disease may delay the diagnosis and institution of treatment
title_fullStr Non-specificity of symptoms in infantile-onset Pompe disease may delay the diagnosis and institution of treatment
title_full_unstemmed Non-specificity of symptoms in infantile-onset Pompe disease may delay the diagnosis and institution of treatment
title_short Non-specificity of symptoms in infantile-onset Pompe disease may delay the diagnosis and institution of treatment
title_sort non-specificity of symptoms in infantile-onset pompe disease may delay the diagnosis and institution of treatment
topic Case Reports: Reminder of important clinical lesson
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8915381/
https://www.ncbi.nlm.nih.gov/pubmed/35264382
http://dx.doi.org/10.1136/bcr-2021-247312
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