Clínica de Diagnóstico por Imagem (CDPI) & Instituto Fernandes Figueira (IFF) – FIOCRUZRio de Janeiro – Brazil

Meckel Gruber syndrome is an autosomal recessive syndrome. It was first described by Meckel in 1822 and later by Gruber. Nowadays, the prenatal diagnosis is possible even in the first trimester by the identification of an encephalocele and dysplastic enlarged kidneys. Others abnormalities can be identified including:

• Omphalocele
• Cardiac anomalies
• Agenesis of corpus callosum
• Cerebellar hypoplasia
• Dandy-Walker cyst
• Holoprosencephaly
• Microcephaly
• Mild ventriculomegaly
• Spinal dysraphism
• Hypotelorism
• Microphthalmia or anophthalmia
• Cleft lip and palate
• Polydactyly
• Intrauterine growth retardation

Case Report: This is a 40-year-old woman, G2P0, referred to our clinic for a first-trimester routine scan. This pregnancy was possible after IVF treatment. We present here the ultrasound diagnosis perfomerd at 13 weeks gestation. Face the poor prognosis, the parents decided to interrupt the pregnancy.

View of the brain protruding thought a posterior calvarial defect (arrow)

Note the encephalocele and the enlarged echogenic kidneys

Note the encephalocele, enlarged kidneys and the polydactyly

3D view of the left kidney

References

• Sepulveda W, Sebier NJ, Souka A, Snijders RJM, Nicolaides KH. Diagnosis of the Meckel-Gruber syndrome at eleven to fourteen weeks' gestation. Am J Obstet Gynecol 176: 316-319, 1997.
• Smith's. Recognizable patterns of human malformations, 4 edition.