Korean J Perinatol.  2013 Sep;24(3):187-190. 10.14734/kjp.2013.24.3.187.

Glycogen Storage Disease Presenting as Fetal Hydrops: A Case Report

• Huh R
• Ahn SY
• Sung SI
• Yoo HS
• Seo YL
• Lee JH
• Chang YS
• Park WS

• KMID: 2280942
• DOI: http://doi.org/10.14734/kjp.2013.24.3.187

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.

Keyword

Glycogen storage disease; Fetal hydrops; Arthrogryposis

MeSH Terms

Arthrogryposis
Biopsy
Contracture
Early Diagnosis
Gestational Age
Glycogen Storage Disease*
Glycogen*
Humans
Hydrops Fetalis*
Joints
Korea
Metabolism
Muscle Hypotonia
Muscles
Polyhydramnios
Glycogen

Figure

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  Fig. 1 H&E & routine enzyme histochemistry shows moderate size variation of myofibers, vacuolated myofibers and interstitial fibrosis.

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  Fig. 2 Electron microscopic image shows subsarcolemmal and intermyofibrillar pools of glycogen particles, with severe myofibrillar and Z-band disorganization, myofibrillar loss and replacement of glycogen accumulation.

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