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 2017-07-20  Case of the week # 452  © Emmanuel Julien
Answer to the case of the week # 452
August 17, 2017 - August 31, 2017
Emmanuel Julien, MD.

Case report
A young healthy woman with unremarkable history was sent to our unit at 35 weeks of pregnancy for evaluation of subcutaneous lesions. 

Our ultrasound examination revealed multiples  lesions with hypoechogenic center and no Doppler vascularization, in arms, calf, buttock and forearms.

Thinking in Congenital Generalized Myofibromatosis as a possible diagnosis, we recommended a MR scan, which confirmed the lesions seen by ultrasound and also showed multiple hyperintensity lesions within the liver, suspicious of tumors.

The baby was born at 36 weeks of pregnancy (3200 gr) and twelve tumors were found (same number as in ultrasound examination). The 15th day of life artificial ventilation was needed because of degradation of the ventilatory function. 

22 tumors were present after one month of life, one of these hepatic. A biopsy was done and prenatal diagnosis of diffuse congenital infantile myofibromatosis was confirmed.

All the peripheric muscular tumors have almost completely dissapeared after one month of life, but the prognosis of visceral lesions is bad. Currently the patient is under methotrexate and vinblastine treatment  and his general condition is stable with normal growth until now.

Images 1, 2 and 3:
2D images showing normal biometry and fetal profile.

Images 4 and 5:
2D and spectral Doppler images showing normal 4 chamber view and normal fetal heart rate.


Images 6, 7 and 8; videos 1, 2 and 3:
2D images showing multiples muscular/subcutaneous lesions in the calf, thigh and arms, with hypoechoic center suggesting myofibromas.


Images 9 and 10, videos 4 and 5: Doppler images showing multiples muscular/subcutaneous lesions in the calf, thigh and arms, with hypoechoic center, poorly vascularized.


Images 11 and 12: 3D image of one of the tumors and its relation with the femur.


Images 13 and 14: sagittal MR images multiple hyperintense lesiones compatible with soft tissue tumors, and multiple hiperintense lesions in the liver, suggesting a tumor of same origin.


Images 15: postnatal image showing a soft tissue tumor in the chest wall.

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