A Case of Meckel-Gruber Syndrome / 대한주산의학회잡지

ABSTRACT

Meckel-Gruber syndrome is a rare autosomal recessive disorder characterized by the triad of posterior meningoencephalocele, cystic change of kidney and polydactyly. It is associated with varying degree of multiple congenital anomalies. So the karyotype is normal, but the phenotype is highly variable. This syndrome is lethal and the patient seldom survive more than a few days to weeks. Prenatal diagnosis may be possible by elevated alpha fetoprotein level in amniotic fluid and sonographic examination. Regarding the 25% recurrence risk, obstetrician and pediatrician should do genetic counseling and serial antenatal examination. Here we describe a female neonate who showed multiple congenital anomalies including cystic change of left kidney, polydactyly of left hand, short neck, micrognathia, low set ears, subaortic stenosis, patent ductus arteriosus and atrial septal defects which could best be designate as Meckel-Gruber syndrome. She died at 22 days of life. We report a case of Meckel-Gruber syndrome with brief review of some related literatures.