Primitive myxoid mesenchymal tumor of infancy with brain metastasis: first reported case

Primitive myxoid mesenchymal tumor of infancy (PMMTI) is a recently diagnosed entity, with only a handful of cases reported to date.

Herein, we present the occurrence of this tumor in a 2-year-old boy, initially diagnosed as primitive neuroectodermal tumor of the extremity and treated with chemotherapy and surgical resection. He later presented with a cerebellar lesion, and biopsy was consistent with PMMTI.

While there have been previous cases of PMMTI reported with loco-regional metastatic spread, to our knowledge, there is no known incidence of distant metastasis with involvement of the central nervous system, which makes this case the first of its kind.