Glycogen Storage Disease Presenting as Fetal Hydrops: A Case Report / 대한주산의학회잡지
Korean Journal of Perinatology
;
: 187-190, 2013.
Artículo
en Inglés
| 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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Artrogriposis
/
Biopsia
/
Hidropesía Fetal
/
Enfermedad del Almacenamiento de Glucógeno
/
Polihidramnios
/
Edad Gestacional
/
Contractura
/
Diagnóstico Precoz
/
Glucógeno
/
Articulaciones
Tipo de estudio:
Estudio diagnóstico
/
Estudio de tamizaje
Límite:
Humanos
País/Región como asunto:
Asia
Idioma:
Inglés
Revista:
Korean Journal of Perinatology
Año:
2013
Tipo del documento:
Artículo
Similares
MEDLINE
...
LILACS
LIS