Case of the Week # 202

Cécile Dalmon, MD, Geneviève Brodaty, MD, Bettina Bessières, MD, Véronique Mirlesse, MD, Luc Gourand, MD.

September 20 - October 4, 2007

Cécile Dalmon*, MD, Geneviève Brodaty*, MD, Bettina Bessières**, MD, Véronique Mirlesse*, MD, Luc Gourand*, MD.

*   Ex-Service de Médecine Foetale, Fernand Daffos, MD, Institut de Puériculture, Paris
**  Service de foetopathologie, IPP Paris.

Here are some atypical findings related to a rare diagnosis. Because of the atypical presentation we decided to show you not only prenatal, but also postnatal images.

Image 1 and 2. 2D gray scale ultrasonography. Image 1 - 19th week of pregnancy. Image 2 - 22nd week of pregnancy.

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Image 3 and 4. 2D gray scale ultrasonography. 21st week.

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Image 5 and 6. 27th - 28th week of pregnancy.

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Image 7 and 8. 27th - 28th week of pregnancy.

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Image 9 and 10

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Image 11 and 12.

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Image 13.

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Image 14 and 15.

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Answer

Here are some atypical findings related to one of the quite rare diagnosis. Because of the atypical presentation we decided to show you not only prenatal, but also postnatal images. The final diagnosis was brain tumor associated with Fanconi's anemia.

Image 1 and 2. 2D gray scale ultrasonography. Image 1 - 19th week of pregnancy - normal intracranial architecture of the fetal head. Image 2 - 22nd week of pregnancy - normal appearance of intracranial structures.

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Image 3 and 4. 2D gray scale ultrasonography. 21st week - normal intracranial architecture of the fetal head.

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Image 5 and 6. 27th - 28th week of pregnancy. Image 5 - power Doppler axial ultrasound scan of the fetal head showing vascularized tumor of the right parieto-occipital region. Image 6 - the same scan as in the image 5 using color Doppler.

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Image 7 and 8. 27th - 28th week of pregnancy gray scale ultrasound scans showing tumor of the right parietooccipital region.

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Image 9 and 10. Postnatal appearance of the bifid thumb.

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Image 11 and 12. Image 11 - postnatal appearance of the baby"s macrocephalic head (image 11) and cafe-au-lait spots (image 12).

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Image 13: Chromosomal breakage.                                    

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Image 14 and 15. Pathological specimens showing tumoral mass of the brain.

[These images are no longer available]

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