Article ; Online: Non-specificity of symptoms in infantile-onset Pompe disease may delay the diagnosis and institution of treatment.
BMJ case reports
2022 Volume 15, Issue 3
Abstract: 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 ... ...
| Abstract | 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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| MeSH term(s) | Cardiomegaly ; Child ; Enzyme Replacement Therapy ; Glycogen Storage Disease Type II/complications ; Glycogen Storage Disease Type II/diagnosis ; Glycogen Storage Disease Type II/drug therapy ; Humans ; Infant ; Muscle Hypotonia/complications ; alpha-Glucosidases/genetics ; alpha-Glucosidases/therapeutic use |
| Chemical Substances | alpha-Glucosidases (EC 3.2.1.20) |
| Language | English |
| Publishing date | 2022-03-09 |
| Publishing country | England |
| Document type | Case Reports ; Journal Article |
| ISSN | 1757-790X |
| ISSN (online) | 1757-790X |
| DOI | 10.1136/bcr-2021-247312 |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
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