Glycogen Storage Disease Presenting as Fetal Hydrops: A Case Report.
10.14734/kjp.2013.24.3.187
- Author:
Rimm HUH
1
;
So Yoon AHN
;
Se In SUNG
;
Hye Su YOO
;
Yeon Lim SEO
;
Jee Hun LEE
;
Yun Sil CHANG
;
Won Soon PARK
Author Information
1. Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University, School of Medicine, Seoul, Korea. yschang@skku.edu
- Publication Type:Case Report
- Keywords:
Glycogen storage disease;
Fetal hydrops;
Arthrogryposis
- MeSH:
Arthrogryposis;
Biopsy;
Contracture;
Early Diagnosis;
Gestational Age;
Glycogen Storage Disease*;
Glycogen*;
Humans;
Hydrops Fetalis*;
Joints;
Korea;
Metabolism;
Muscle Hypotonia;
Muscles;
Polyhydramnios
- From:Korean Journal of Perinatology
2013;24(3):187-190
- CountryRepublic of Korea
- Language:English
-
Abstract:
Glycogen storage disease (GSD) is a group of heterogeneous disorders of glycogen metabolism that results in abnormal storage of glycogen in multiple organs. Clinical manifestations of GSD vary according to the basic enzyme defect. Only types II, IV, V or VII of GSD have been known to manifest in the infantile period. Of the 11 types of GSD, the congenital subtype of GSD type IV is characterized by severe neonatal hypotonia, multiple contractures, polyhydramnios, and fetal hydrops. We report a case of a patient born at a gestational age of 34 weeks and 3 days with fetal hydrops, joint contractures, and akinesia. Muscle biopsy results were highly indicative of GSD. This is the first case of suspected GSD in Korea presenting as fetal hydrops. The possibility of other disorders associated with glycogen metabolism should be considered in fatal fetal hydrops patients with severe hypotonia and arthrogryposis, and aggressive investigations such as muscle biopsy should be performed for early diagnosis.
