Mirror movements associated with cervical limited dorsal myeloschisis: a unique case study.

Mirror movements, characterized by involuntary symmetrical movements in contralateral body parts during intentional movements, have been associated with various neurological conditions. Limited dorsal myeloschisis (LDM), a rare form of spinal dysraphism, is defined by a focal closed midline defect and a fibro-neural stalk connecting the skin lesion to the underlying cord. We present a unique case of a 4-year-old girl with cervical LDM exhibiting mirror movements. The patient underwent surgical exploration, skin tag excision, fibrous tract removal, and cervical spinal cord detethering. Post-operatively, there was a partial improvement in mirror movements and a complete resolution of hand grip weakness.

Surgical Management of Large (≥3 cm) Trigeminal Schwannomas: Functional Outcomes and Approach Selection in Multicompartmental Schwannomas.

Introduction Trigeminal schwannoma surgery has shown a remarkable improvement in functional recovery and tumor resection. In the era of radiosurgery, these outcomes need to be characterized for tumors which are outside the realm of being treated with radiosurgery. We present a series of trigeminal schwannomas larger than 3 cm, surgical approaches used, and outcomes with an emphasis on functional recovery in a high-volume center with radiosurgery facilities. Method All consecutive cases of trigeminal schwannoma from January 2012 to May 2021 which were more than 3 cm in size and underwent microsurgery were included in this series. The surgical approach, neurological outcomes, and extent of resection were defined objectively with pre/postoperative magnetic resonance imaging. Results A total of 83 such cases (>3 cm) were found, with cranial nerve symptoms (5th most common) being the commonest. Twenty three percent cases had blindness due to secondary optic atrophy and eighteen percent had long tract motor symptoms signifying the tumor burden in our series. Radiological gross total excision was achieved in 75.9% cases. Conclusion Large-volume schwannomas present with cranial nerve involvement and may need extensive skull base approaches. Functional outcomes need to be prioritized and can be achieved albeit with lesser gross resection rates. Hearing and facial preservation in addition to relief of trigeminal symptoms should be the goal of resection with minimal additional morbidity.

Proteomic profiling of medulloblastoma reveals novel proteins differentially expressed within each molecular subgroup.

OBJECTIVES: The objective of the study was to identify novel medulloblastoma (MB) biomarkers through proteomic profiling, correlate it with the molecular subgroups of MB and assess the clinical significance. METHODS: Archived paraffin embedded tumor tissue blocks from 118 MB patients, operated at our institute were retrieved. Clinical information was documented from the hospital database. Tumours were stratified into molecular subgroups using the IHC markers- ß Catenin, GAB-1, YAP-1 and p53. Six fresh MB tumour tissues and two control cerebellar tissues were subjected to proteomic profiling to study differential protein expression in molecular subgroups using high resolution mass spectrometry. Prominent signalling pathways activated in each subgroup were identified using the Panther pathway software. RESULTS: Non WNT/SHH group was the most common (61.1 %), followed by SHH and WNT. p53 immunopositivity did not correlate with prognosis in any subgroup. Proteomic profiling revealed several novel proteins differentially expressed between MB molecular subgroups. Signalling pathways exclusively enriched in each molecular subgroup were also identified. The top upregulated proteins were PMEL and FBN2 in the WNT subgroup, SYNGR2 in the SHH subgroup and GFAP, IMPG2 and MAGEA10 in the Non WNT/Non SHH group. We validated GFAP by immunohistochemistry on the archived samples (n = 118) and noted two types of staining pattern in MBs - reactive (stellate) astrocytes and tumour cell staining. GFAP immunopositivity in tumor cells of SHH subgroup correlated with a better prognosis. CONCLUSIONS: Proteomic profile identified several novel proteins differentially regulated within the molecular subgroups that could serve as potential diagnostic /prognostic biomarkers. Notably, GFAP, which was derived from proteomics data, when validated by IHC, revealed a variable staining pattern in MB tumours. The prognostic significance of GFAP in SHH tumor patients further points at the heterogeneity of this subgroup. The study also throws light on the signaling pathways activated in MB and in turn its plausible role in the tumorigenesis.