Congenital giant intramedullary spinal cord schwannoma

Abstract

A full-term infant with an uncomplicated vaginal delivery presented with absent cry on routine newborn heelstick testing. Neurologic examination revealed paraplegia, absent reflexes, and a T4 sensory level. Spinal MRI showed an expansive, gadolinium-enhancing intramedullary mass from T2 to the thecal sac (figure, A and B). Biopsy confirmed a diagnosis of cellular schwannoma, WHO grade 1 (figure, C). Genetic and immunohistochemical testing for NF-2 and schwannomatosis were negative. Cases of focal intramedullary schwannoma have been rarely reported. 1,2 This congenital, extensive intramedullary schwannoma highlights the diversity of low-grade neonatal spinal neoplasms, obviating initiation of therapy until pathologic diagnosis is achieved.

Identification of NTRK fusions in pediatric mesenchymal tumors

“…Two cases were in girls 14 and 17 years old, soft tissue primitive neuroectodermal tumor arising in a neurocristic harmartoma and an IMT, respectively. One case was a schwanomma of the spinal cord in a 5‐year‐old boy and has been described previously without genomic profiling …”

“…One case was a schwanomma of the spinal cord in a 5-year-old boy and has been described previously without genomic profiling. 14…”

Cervical Intramedullary Schwannoma: Case Report and Review of the Literature

“…Men are more affected than female in a 3: 1 ratio [ 8 ]. The mean age of presentation is around the fourth decade of life, but congenital IS cases have been reported [ 8 , 10 ]. Although vestibular schwannomas are distinctive of Neurofibromatosis type 2, emergence of IS has been reported in this hereditary disease [ 9 , 11 ].…”

Pediatric intramedullary schwannoma with syringomyelia: a case report and literature review

“…There are several hypotheses on the origin of intramedullary schwannomas [ 17 – 21 ]. To date, only eight pediatric cases of intramedullary schwannoma without neurofibromatosis have been reported in the PubMed published English literature [ 6 – 13 ], not including an extensive thoracolumbar congenital intramedullary schwannoma [ 22 ]. In the present case, intramedullary schwannoma occurred at the age of nine.…”