ABSTRACT
Multisystem Proteinopathy 1 (MSP1) disease is a rare genetic disorder caused by mutations in the Valosin-Containing Protein (VCP) gene with clinical features of inclusion body myopathy (IBM), frontotemporal dementia (FTD), and Paget's disease of bone (PDB). We performed bone scan imaging in twelve patients (6 females, 6 males) with confirmed VCP gene mutation six (50%) of which has myopathy alone, four (33%) with both PDB and myopathy, and two (15%) were presymptomatic carriers. We aim to characterize the PDB in diagnosed individuals, and potentially identify PDB in the myopathy and presymptomatic groups. Interestingly, two patients with previously undiagnosed PDB had positive diagnostic findings on the bone scan and subsequent radiograph imaging. Among the individuals with PDB, increased radiotracer uptake of the affected bones were of typical distribution as seen in conventional PDB and those reported in other MSP1 cohorts which are the thoracic spine and ribs (75%), pelvis (75%), shoulder (75%) and calvarium (15%). Overall, we show that technetium-99m bone scans done at regular intervals are a sensitive screening tool in patients with MSP1 associated VCP variants at risk for PDB. However, diagnostic confirmation should be coupled with clinical history, biochemical analysis, and skeletal radiographs to facilitate early treatment and prevention complications, acknowledging its limited specificity.
Subject(s)
Frontotemporal Dementia , Muscular Dystrophies, Limb-Girdle , Myositis, Inclusion Body , Osteitis Deformans , Male , Female , Humans , Frontotemporal Dementia/diagnostic imaging , Frontotemporal Dementia/genetics , Valosin Containing Protein/genetics , Cell Cycle Proteins/genetics , Osteitis Deformans/diagnostic imaging , Osteitis Deformans/genetics , Merozoite Surface Protein 1/genetics , Tomography, X-Ray Computed , Mutation , Myositis, Inclusion Body/diagnostic imaging , Myositis, Inclusion Body/geneticsABSTRACT
Aneurysms are focal abnormal dilations of the arterial wall occurring frequently at branching points along the arteries of the base of the brain. Aneurysmal rupture is one of the possible aneurysm complications and can cause aneurysmal subarachnoid hemorrhages (aSAH). Treatment of aSAH consists of pharmacologic, surgical, or endovascular approaches. The ultra-early intervention of ruptured aSAH occurs within the first 24 hours after ruptured aSAH. This case is about a 49-year-old obese male with multiple comorbidities who suffered from a grade IV subarachnoid hemorrhage and underwent an ultra-early surgical clipping approximately four hours after admission to the emergency center. The patient had excellent functional recovery at a six-month follow-up. Ultra-early surgical intervention for high-grade aSAH with rebleeding could improve outcomes.
