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Creutzfeldt–Jakob disease (CJD) belongs to a group of prion disease that is caused by abnormally folded proteins and is clinically characterized by rapidly progressive cognitive decline, gait abnormalities, and myoclonus. Familial CJD is very rare and is described only in few families around the world. We report a case with rapidly progressive cognitive decline, ataxia, and myoclonus, with a history of several members of his family developing similar symptoms and succumbing to it. Clinical presentation and neuroimaging were suggestive of CJD. On genetic analysis, our index case and two of his family members (younger brother and younger son) were found to have D178N mutation in PRNP gene. The polymorphism of the 129th amino acid was V/V. We report the first kindred familial CJD from South-East Asia with genetically proven D178N-129V haplotype. [ABSTRACT FROM AUTHOR]

Vertebral hemangiomas are benign but highly vascular lesions and are one of the most common lesions of the vertebral column. Anterior soft-tissue compression of spinal cord due to vertebral body hemangioma is challenging to manage. Our objective was to assess long-term clinical and radiologic effects of direct transpedicular absolute alcohol embolization, laminectomy, and short-segment instrumented fusion on resolution of extraosseous epidural soft tissue and improvement in myelopathy in cases of vertebral hemangioma causing anterior soft-tissue compression. This was a retrospective analysis that included patients with single-level vertebral hemangioma with anterior intraspinal soft-tissue growth causing spinal cord compression and clinical features of myelopathy between June 2007 and June 2019 at authors' institute. Transpedicular vertebral body injection of absolute alcohol, laminectomy, and pedicle screw rod instrumentation was performed in all patients. Clinicoradiologic outcomes of surgery were noted. We proposed a grading system for the extent of anterior extraosseous epidural soft-tissue compression. In total, 14 patients were included in study. Their mean age was 28.4 ± 14.4 years. Mean follow-up duration was 67.5 ± 36.2 months. All patients had preoperative radiologic grade 4 compression. Postoperative radiologic grading improved to grade 1 in 4 (28.6%), grade 2 in 8 (57.1%), and grade 3 in 2 (14.3%). All the patients improved neurologically after surgery. Eleven patients improved to American Spinal Injury Association (ASIA) grade E, 2 improved to ASIA D, and 1 improved to ASIA C at the last follow-up visit. Vertebral hemangiomas with anterior extraosseous epidural extension causing spinal canal compromise and myelopathy can be managed with direct transpedicular ethanol embolization, laminectomy, and short-segment instrumented fusion with resolution of the extraosseous soft tissue and improvement in myelopathy. The procedure is relatively simple, cost effective, and has a good outcome. [ABSTRACT FROM AUTHOR]