Glycogen Storage Disease Presenting as Fetal Hydrops: A Case Report / 대한주산의학회잡지
Korean Journal of Perinatology
;
: 187-190, 2013.
Article
Dans Anglais
| WPRIM
| ID: wpr-213466
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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Arthrogrypose
/
Biopsie
/
Anasarque foetoplacentaire
/
Glycogénose
/
Polyhydramnios
/
Âge gestationnel
/
Contracture
/
Diagnostic précoce
/
Glycogène
/
Articulations
Type d'étude:
Etude diagnostique
/
Étude de dépistage
Limites du sujet:
Humains
Pays comme sujet:
Asie
langue:
Anglais
Texte intégral:
Korean Journal of Perinatology
Année:
2013
Type:
Article
Documents relatifs à ce sujet
MEDLINE
...
LILACS
LIS