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Meckel-Grüber syndrome: sonography and pathology
V Ickowicz1, D Eurin, B Maugey-Laulom
1Department of Pediatric Imaging, Charles Nicolle Hospital, Rouen, France.
Objective:
To define a specific sonographic pattern for the appearance of the kidneys in fetuses affected by Meckel-Grüber syndrome (MGS).
Methods:
This was a retrospective analysis of 30 cases, collected from five centers, with ultrasound features suggestive of MGS. Only fetuses with a confirmed diagnosis of MGS were finally included. Analysis included a detailed evaluation of the sonographic findings and comparison with pathological follow-up.
Results:
Seventeen cases met the pathological criteria for a diagnosis of MGS and were included in the study. In all cases, a typical sonographic pattern was seen: the kidneys were enlarged (mean, + 4.8 SD) and showed unusual corticomedullary differentiation, occurring as early as the first trimester. In most cases, the medullary areas appeared excessively large and mottled due to the presence of multiple small cysts.
Conclusions:
The kidneys of fetuses with MGS are enlarged, cystic and have unusual corticomedullary differentiation. These features can be observed as early as the first and early second trimesters.
Insights
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.
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.
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.
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