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Related Experiment Videos

Meckel-Grüber syndrome: sonography and pathology.

V Ickowicz1, D Eurin, B Maugey-Laulom

  • 1Department of Pediatric Imaging, Charles Nicolle Hospital, Rouen, France.

Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology
|February 2, 2006
PubMed
Summary

Meckel-Grüber syndrome (MGS) in fetuses presents a distinct kidney pattern. Enlarged, cystic kidneys with unusual corticomedullary differentiation are identifiable via ultrasound in early pregnancy.

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Area of Science:

  • Medical imaging
  • Fetal medicine
  • Genetics

Background:

  • Meckel-Grüber syndrome (MGS) is a severe autosomal recessive developmental disorder.
  • Prenatal diagnosis of MGS is crucial for genetic counseling and management.
  • Specific sonographic markers can aid in early detection.

Purpose of the Study:

  • To characterize the specific sonographic appearance of fetal kidneys in Meckel-Grüber syndrome.
  • To establish early ultrasound markers for MGS diagnosis.

Main Methods:

  • Retrospective analysis of 30 cases with ultrasound findings suggestive of MGS.
  • Inclusion of only fetuses with confirmed MGS diagnosis.
  • Detailed sonographic evaluation correlated with pathological findings.

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Main Results:

  • Seventeen cases confirmed MGS pathologically.
  • Consistent sonographic pattern observed: enlarged kidneys (+4.8 SD mean).
  • Unusual corticomedullary differentiation noted, with enlarged, mottled medullary areas due to cysts, detectable from the first trimester.

Conclusions:

  • Fetal kidneys in MGS exhibit characteristic enlargement, cystic changes, and abnormal corticomedullary differentiation.
  • These sonographic findings are detectable as early as the first and early second trimesters.
  • Sonographic renal pattern is a valuable indicator for MGS diagnosis.