Congenital solitary infantile myofibromatosis involving the spinal cord

Abstract

<jats:p>Infantile myofibromatosis, a rare mesenchymal disorder that develops in early childhood, is classified by the number of lesions that occur: solitary or multicentric. Involvement of the CNS is unusual in either type. Infantile myofibromatosis in the spine is exceptional, and most published cases represent a secondary invasion. Here, the authors report on an 8-month-old girl presenting with weakness below the ankle and an intraspinal mass extending from T-6 to the conus. The patient underwent only partial surgical removal of the lesion, and the pathology was confirmed as infantile myofibromatosis. After the operation, weakness in the lower extremities gradually improved; however, she could not walk at the time of the final follow-up. On follow-up MRI performed 19 months after the operation, the residual lesion remained unchanged with decreased enhancement.</jats:p>

Spinal Canal Involvement in Solitary Infantile Myofibromatosis: Case Report

“…Infantile myofibromatosis involving the spinal canal is very rare; 11 cases have been reported so far in the literature including 4 cases of the solitary form and a single case of intramedullary solitary form (►Table 1). [3][4][5][6] To the best of our knowledge, we are reporting second case of intramedullary solitary type IM localized within the spinal cord without any visceral involvement. The etiology and pathogenesis of IM are still obscure.…”

Effects of Sunitinib and Other Kinase Inhibitors on Cells Harboring a PDGFRB Mutation Associated with Infantile Myofibromatosis

“…Infantile myofibromatosis (IM; [MIM#228550]) is a disorder of mesenchymal proliferation characterized by the development of nonmetastatic tumors [ 1 ] that present as firm, flesh-colored to purple nodules usually located in the skin, subcutaneous tissues, bone, muscle or visceral organs [ 2 , 3 ]. This disease was described under different names, the name “infantile myofibromatosis” was first used in 1981 [ 4 ].…”