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Early Onset Pompe and Leukoencephalopathy: A Case-Report Study
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Soroor Inaloo   , Atena Modanlou * |
| Pediatric Neurology Neonatal Research Center, Shiraz University of Medical Sciences, Shiraz, Iran , a.modanlu@gmail.com |
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Abstract: (1451 Views) |
Background:
Acid maltase deficiency is the cause of Pompe disease (PD), also known as glycogen storage disease type II, which can result in lysosomal glycogen storage. Children, adults, and newborns can all exhibit fundamental characteristics. We described a rare case of Pompe disease (PD) with leukodystrophy manifestations, who was referred two years prior by an orthopedist due to irregular walking.
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| Keywords: Pompe disease, Glycogen storage disease, Hypertrophy. |
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Full-Text [PDF 981 kb]
(903 Downloads)
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Type of Study: Case Report |
Subject:
کودکان
Received: 2023/06/30 | Accepted: 2023/08/2 | Published: 2023/08/6
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