Imaging findings in seven cases of congenital infantile myofibromatosis with cerebral, spinal, or head and neck involvement

Introduction

Congenital infantile myofibromatosis (IM) is a rare mesenchymal disease, presenting with tumors in the skin, muscle, viscera, bone, and subcutaneous tissue. It can present as (a) a solitary form with subcutaneous, erythematous nodules, (b) a multicentric form with subcutaneous, muscle, and/or bony lesions, and (c) a multicentric form with visceral involvement. Cerebral or spinal involvement in myofibromatosis has been reported rarely.

Methods

We report seven cases of histology-proven infantile myofibromatosis with brain, spine, and/or head and neck involvement.

Results

In three patients with multiple subcutaneous nodules, a multicentric form of IM with visceral involvement was diagnosed. In three patients, a multicentric form without visceral involvement was found. Two patients had brain involvement, and four patients had vertebral body involvement.

Conclusion

In a newborn presenting with intraparenchymal brain lesions, epidural spinal masses, and/or vertebra plana or lytic lesions of the calvarium and spine, infantile myofibromatosis should be considered as a possible differential diagnosis. The presence of subcutaneous or muscular nodules facilitates the diagnosis.