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2014-06-25-17 Answer to the case of the week #376 © Julien 

Answer to the case of the week #376

August 21 - September 04, 2014

Emmanuel Julien, MD.

Centre hospitalier Le Mans, France.


Case report

A 19-year-old woman (G1P0), with non-contributive history was referred to our office at 25 weeks of gestation due to enlarged cisterna magna of the fetus. Mild hypertrophy of cardiac walls was seen during the scan. Pulmonary valve was smaller than the aortic valve and slight enlargement of the pulmonary trunk reflecting mild pulmonary stenosis was visible. Thymus of the fetus was not observed. Amniocentesis revealed normal karyotype (46, XY), but the FISH analysis (Fluorescent In Situ Hybridization) for microdeletion of chromosome 22 was not included in the testing.

MRI at 32 weeks confirmed the enlargement of the cisterna magna without other intracranial anomalies.

The newborn was delivered at 39 weeks (male, 3500 g). Early postnatal adaptation was normal, but seven days after delivery feeding difficulties and hypotonia was observed. Postnatal ultrasonography of the fetal head did not found any anomaly. Fetal heart had the same appearance with the mild pulmonary stenosis. Thymus was absent and postnatal karyotyping revealed 22q11.2 deletion syndrome (DiGeorge syndrome) of the neonate.

Images 1, 2, 3, and 4: 25 weeks of gestation; the images show transverse and sagittal scans of the fetal head with dilated cisterna magna. Micrognathia can also be noticed on the image 4.



Images 5, 6: 25 weeks of gestation; the images show sagittal scans of the fetal head. Dilated cisterna magna and micrognathia can be seen.


Images 7, 8, 9: 25 weeks of gestation; the images show transverse and sagittal scans of the palate - no cleft was observed.


Image 10: 25 weeks of gestation; femur of the fetus; fetal biometry was concordant with the gestational age according to the last menstrual period.

Images 11, 12, 13: 25 weeks of gestation; transverse scans of the fetal thorax at the level of the four-chamber-view (image 11) and outflow tracts view (images 12, 13). Dilated pulmonary artery can be seen and thymus is not present.


Videos 1, 2, 3: 25 weeks of gestation; transverse scans of the fetal thorax at the level of the four-chamber-view and outflow tracts view (videos 1, 2) showing poststenotic dilation of the pulmonary artery caused by mild pulmonary stenosis. Video 3 shows 3D imaging of the fetal face with micrognathia.


Images 14, 15: 32 weeks of gestation; MRI images showing dilated cisterna magna and micrognathia of the fetus.


One of our solvers, Philippe Deblieck, had sent us very funny and clever answer for this case and so we've decided to publish it here:

Holmes: Watson!
Watson: Holmes?
Holmes: did you really expect that the case of Emmanuel Julien would be so easy? You know him. He is painting. He loves images and he placed the pictures with his logic…
You have to consider all of them…
Look at the mouth.You mean macroglossia? Really? But why not a microgenia? … a small mandible giving us the false impression of an enlarged tongue.
Watson: Oh!
Holmes: look at the face, the small chin and mandible , the broad nasal bridge and the widely spaced eyes .
Look at the heart. A wonderful four chamber view but a pathological outflow. Perhaps a pulmonary stenosis ? and only a branch?The small retrosternal space could be an indice for a thymic hypoplasia…
I would say a velo-cardio-facial syndrome ( Di George ,CATCH 22….)
I red in a newspaper for several time about associated  brain anomalies in 10 % of these cases.
Elementary my dear Watson?
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