Abnormal Prenatal Sonographic findings in Two Cases of Zellweger Syndrome / 대한주산의학회잡지
Korean Journal of Perinatology
; : 54-59, 2005.
Article
in Ko
| WPRIM
| ID: wpr-68809
Responsible library:
WPRO
ABSTRACT
Zellweger syndrome is a lethal autosomal recessive disorder characterized by neonatal hypotonia, neonatal seizure, psychomotor retardation, facial dysmorphism, and hepatomegaly. It is characterized by an absence or marked decrease of the number of peroxisomes. Children with Zellweger syndrome rarely survive their first year of life. Diagnosis depends on demonstration of elevated very long chain fatty acid in plasma and deficient activity of the peroxisomal enzyme. Chorionic villi sampling or the biochemical analysis of amniocytes makes it possible to identify a fetus affected by Zellweger syndrome during the first trimester of pregnancy. We experienced two cases of postnatally diagnosed Zellweger syndrome with mild sonographic abnormalities prenatally and report our cases with a brief review of literature.
Key words
Full text:
1
Index:
WPRIM
Main subject:
Plasma
/
Pregnancy Trimester, First
/
Seizures
/
Chorionic Villi Sampling
/
Zellweger Syndrome
/
Ultrasonography
/
Peroxisomes
/
Diagnosis
/
Fetus
/
Hepatomegaly
Type of study:
Diagnostic_studies
Limits:
Child
/
Female
/
Humans
/
Pregnancy
Language:
Ko
Journal:
Korean Journal of Perinatology
Year:
2005
Type:
Article