An 8-month-old female presented with hydrocephalus caused by cerebrospinal fluid (CSF) overproduction due to bilateral choroid plexus enlargement, which was clinically diagnosed as diffuse villous hyperplasia of the choroid plexus, but differentiation from bilateral choroid plexus papilloma was difficult. She initially underwent ventriculoperitoneal shunt surgery, but developed marked retention of ascites. Therefore, the peritoneal end of the shunt was removed for external drainage, but excessive CSF (1,500 ml/day) was collected. Computed tomography and magnetic resonance imaging revealed marked symmetric enhancement of the choroid plexuses in the bilateral lateral ventricles. Thallium-201 chloride single-photon emission computed tomography showed pronounced uptake on both early and delayed images, and good washout. CSF examination revealed no abnormalities such as atypical cells, and a ventriculoatrial shunt was inserted, achieving good control of the hydrocephalus.

Objective The primary outcome measure used in mechanical thrombectomy (MT) trials is the modified Rankin Scale (mRS). However, the accuracy of mRS might be limited. On the other hand, the functional independence measure (FIM) is a widely used tool to quantify the extent to which patients require assistance during their activities of daily living. The current study aimed to reveal different clinical backgrounds that affect the efficacy of MT measured either by mRS or FIM. Methods Patients who underwent MT at our institution from January 2019 to July 2022 were included and divided into groups based on mRS scores of 0–2 and ≥ 3. Patients were also divided into two groups based on a cut-off value of FIM of ≥ 108, as patients with FIM ≥ 108 are capable of living an independent life. Results The mRS score was 0–2 in 33% of the patients, while the FIM score was ≥ 108 in only 15% of the patients. In the mRS groups, there were significant differences in terms of duration of hospitalization, National Institutes of Health Stroke Scale (NIHSS) scores, achievement of thrombolysis in cerebral infarction (TICI) reperfusion grade of 2b or 3, and postoperative bleeding. Multivariate logistic regression analysis revealed that NIHSS score and achievement of TICI 2b or 3 were significant factors related to mRS 0–2 at discharge. The FIM groups differed significantly in terms of age and, duration of hospitalization, NIHSS score, although multivariate logistic regression analysis revealed that only the NIHSS score was significantly associated with an FIM score of ≥ 108. Conclusion The study showed that the percentage of independent patients is significantly reduced when we evaluated the patients by the FIM. In addition, there are some differences in the clinical background that led to a good outcome between that evaluated by mRS and FIM.

Most atypical teratoid/rhabdoid tumor (AT/RT) of the central nervous system shows an inactivation of SMARCB1 (INI1) and is considered as the hallmark of this neoplasm. However, AT/RT could exceptionally rarely present retained SMARCB1 (INI1) but inactivated SMARCA4 (BRG1). Here, the authors report a rare case of a 2-year-old boy with a SMARCB1 (INI1) retained but SMARCA4 (BRG1) negative AT/RT arising at the bilateral cerebellopontine angles mimicking neurofibromatosis type 2. The tumor was highly aggressive and was refractory to all treatment modalities. This case highlights the challenges during differential diagnosis of atypical cerebellopontine angle tumors of childhood and the importance of thoroughly investigating SMARCB1 (INI1) and SMARCA4 (BRG1) when AT/RT is suspected.

Systemic amyloidosis is a diseased condition where misfolded proteins deposit in various organs in the form of amyloids, and transthyretin deposition, termed ATTR amyloidosis, can be either an age-related amyloid formation from misfolded wild-type TTR (ATTRwt) or by hereditary TTR malfunction due to mutation in the TTR gene (ATTRv). Although ATTRwt amyloidosis can cause various diseases, such as cardiac failure, conduction disturbances, arrhythmias and carpal tunnel syndrome, it is still under-recognised considering its clinical significance. Here the authors report a case of ATTRwt amyloidosis leading to carotid stenosis requiring surgical intervention. To the best of our knowledge, the current report is the first that described histopathological evidence of amyloid deposition in the carotid artery due to ATTRwt amyloidosis.