Current Research in Medical Sciences
Babol Univesity of Medical Sciences
Thu, Feb 19, 2026
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Volume 7, Issue 1 (7-2023)
CRMS 2023, 7(1): 51-54 |
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Inaloo S, Modanlou A. Early Onset Pompe and Leukoencephalopathy: A Case-Report Study. CRMS 2023; 7 (1) :51-54
URL: http://crms.mubabol.ac.ir/article-1-159-en.html
URL: http://crms.mubabol.ac.ir/article-1-159-en.html
Pediatric Neurology Neonatal Research Center, Shiraz University of Medical Sciences, Shiraz, Iran , a.modanlu@gmail.com
Abstract: (2340 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.
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.
Type of Study: Case Report |
Subject:
کودکان
Received: 2023/06/30 | Accepted: 2023/08/2 | Published: 2023/08/6
Received: 2023/06/30 | Accepted: 2023/08/2 | Published: 2023/08/6
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