Neurological research and practice最新文献

Background: Fabry disease (FD) is an X-linked lysosomal storage disorder caused by mutations in the α-galactosidase A (GLA) gene, leading to an increased risk for white matter lesion (WML), stroke and cerebral microbleeds. Utilizing MRI data from the prospective observational FAMOUS study we assessed MRI characteristics of FD and treatment effects of migalastat.

Methods: 19 patients with pathogenic (PV) and 14 patients with likely benign genetic variants (LBV: p.A143T, p.D313Y, and p.S126G) underwent MRI at baseline and 24 month-follow up under migalastat treatment. WML load, using Fazekas and Scheltens scores, basilar artery diameter (BAD), and the occurrence of strokes and cerebral microbleeds were assessed. Patients were compared by variant type (PV/LBV) and presence of arterial hypertension.

Results: WML load was low to moderate and remained stable. Four PV patients showed progress by visual examination. WML load was similar between PV and LBV groups. Patients with arterial hypertension had a higher Scheltens score. PV patients had higher BAD. No patient showed cerebral microbleeds. One PV patient with coincident multiple sclerosis demonstrated a positive central vein sign.

Conclusion: Our data suggest that microangiopathic lesion load remains relatively stable under migalastat. Antihypertensive therapy may be important to reduce WML in FD. Further studies are needed to assess the cerebral effect of migalastat therapy.

Background: Acute spontaneous intracerebral hemorrhage (ICH) is a life-threatening neurological emergency that afflicts more than 3 million people worldwide each year and has the highest mortality and morbidity of all stroke types. Acute care of ICH patients is targeted towards reducing secondary brain injury by preventing hematoma expansion and alleviating elevated intracranial pressure (ICP) from hydrocephalus, midline shift, brain compression and perihematomal edema.

Aim: To provide a practical standard operating procedure (SOP) for the initial evaluation and management of acute spontaneous ICH patients.

Method: This SOP was developed using the latest clinical guidelines and relevant studies on the management of ICH patients along with the authors' own experience and judgment.

Results: Emergent care of ICH patients begins with stabilizing vital functions, rapid systolic blood pressure lowering and simultaneous reversal of any coagulopathy. Code ICH is a novel proposal to incorporate time-based bundled care to ensure timely institution of these therapies within 60 min of presentation. Clinical signs of elevated ICP and herniation should warrant prompt hyperosmolar therapy and emergent ventricular drainage for hydrocephalus. Emergent craniotomy or decompressive craniectomy for mass effect can be a lifesaving measure but may not improve functional outcomes. Early minimally invasive surgical interventions to promote clearance of intraventricular and parenchymal hemorrhage hold promise in not only improving survival but also promoting long-term functional improvement. Most importantly, early therapeutic nihilism must be avoided, and prognostication should be delayed for the first few days to allow time for recovery.

Conclusion: Avoiding early pessimism and promoting emergent aggressive bundled care for ICH patients can promote favorable outcomes. Minimally invasive surgical interventions to promote prompt blood clearance should be considered to improve long-term recovery.