Two Cases of Atypical Teratoid/Rhabdoid Tumor in the Spinal Cord: Loss of SMARCB1 in a Child and Loss of SMARCA4 in an Adult.

We compare two cases of primary spinal atypical teratoid/rhabdoid tumor (AT/RT), which rarely occurs in adults marked by SMARCA4 inactivation, and SMARCB1 inactivation for pediatric cases. AT/RT represents a highly malignant neoplasm comprising poorly differentiated constituents and rhabdoid cells, with SMARCB1(INI1) or infrequently SMARCA4 (BRG1) inactivation. These tumors are predominantly found in children but are rare in adults. While AT/RT can arise anywhere in the central nervous system, spinal cord localization is comparatively scarce. Despite mutation or loss of SMARCB1 at the 22q11.2 locus serving as the genetic hallmark of AT/RTs, infrequent cases of SMARCA4 inactivation with intact SMARCB1 protein expression are significant. We present each case of primary spinal tumors in a child and an adult, showing loss of the SMARCB1 and SMARCA4 proteins, respectively. Both tumors met the AT/RT diagnostic criteria. The histopathology demonstrated the presence of rhabdoid cells in both cases. Diagnosing primary spinal AT/RT with SMARCB1 protein loss remains a challenge. Nevertheless, the presence of SMARCB1 positivity alone must be noted to be insufficient to exclude the possibility of AT/RT diagnosis. In cases in which the diagnosis of AT/RT is highly suspected clinically, additional testing is warranted, including SMARCA4 analysis.

Bacterial meningitis caused by nontraumatic cerebrospinal fluid rhinorrhea with aqueductal stenosis: A case report.

Background: Nontraumatic cerebrospinal fluid (CSF) rhinorrhea associated with aqueductal stenosis is rare. The resulting CSF leakage may cause bacterial meningitis, and appropriately timed surgical treatment should be considered. Case Description: A 28-year-old woman with obstructive hydrocephalus secondary to aqueductal stenosis presented with intermittent nasal discharge. CSF rhinorrhea was suspected, but she refused surgery. During the course of conservative treatment, she developed meningitis. Exacerbation of hydrocephalus and CSF rhinorrhea was suspected, and the patient underwent endoscopic third ventriculostomy after recovery from meningitis. Postoperatively, ventricular size decreased and CSF leakage completely resolved. There was no recurrence of hydrocephalus or rhinorrhea. Conclusion: Patients with intermittent CSF rhinorrhea due to exacerbation of hydrocephalus are at high risk for bacterial meningitis. Appropriately timed surgical treatment results in a favorable outcome.