A superficial siderosis‐related transient focal neurological episode in a patient with Marfan syndrome

Sagittal computed tomography of lumbal spine showing dural ectasia and Tarlow Cyst (red arrows) (A). Magnetic resonance imaging (MRI) axial slice, susceptibility-weighted (SWI) sequences siderosis in cerebellar sulci the inset uncharacteristic iron deposition dental nuclei, more pronounced on left side (B, inset). MRI, SWI, numerous foci superficial (C). Marfan syndrome is an autosomal dominant disorder connective tissue caused by mutations gene encoding a matrix component microfibrils; fibrillin-1 (FBN1),1 with incidence about 1–3 per 10,000 individuals.2, 3 Cardinal manifestations include proximal aortic aneurysm, dislocation ocular lens, long-bone overgrowth.2 Dural ectasia, which defined as ballooning or significant widening sac neural root sleeves, also common finding these patients, reported to present than 60% cases considered major criterion for clinical diagnosis this syndrome.3 Superficial (SS), other hand, rare condition hemosiderin accumulation central nervous system resulting from prolonged low-grade bleeding into subarachnoid space.4 Cerebral irritation due cortical SS can lead transient focal neurological deficits.5 Arteriovenous malformations (AVM), head spinal trauma, prior neurosurgery, tumors are usual culprits. Furthermore, (and lesser extent infratentorial) known complication cerebral amyloid angiopathy (AA) persons over 55 years age. In younger population, without AVM, tumor, familial AA traits, despite extensive imaging, source often not evident during evaluation.6 Rarely, presenting chronic cerebrospinal fluid leak, cause could be underlying defects such patients.7 A 38-year-old man was admitted temporary numbness that suddenly appeared day before along entire medial aspect upper extremity lasted 20 min (NIHSS 0, mRS 0). Brain MRI showed no evidence recent ischemia intracranial aneurysms but characteristic (Figure 1). Extensive detected thoracolumbar (CT) Neurosonography slight arteriosclerotic wall changes relevant plaque formation. No abnormalities were echocardiography. Long-term ECG had atrial fibrillation. There deposits mechanical valves transesophageal The CT angiography main trunk occlusion inconspicuous display internal carotids. descending thoracic aorta measured almost 4 cm, existing dissection membrane small true lumen at 32 two perforations approximately 12 mm apart, larger one diameter shunt depending cardiac cycle both directions. after prosthesis beginning arch reaching pelvic vessels. continued brachiocephalic trunk, right carotid artery, artery. indication patent foramen ovale found. Findings clinically nonsignificant surgeon who performed operation. history, surgical background positive Stanford Bentall procedure (composite graft replacement valve, root, ascending aorta) half presentation because increasing aneurysmal expansion arch. valve (27 St. Jude conduit) implanted, well partial using hemiarch (28 Gelweave prosthesis). He anticoagulated Marcoumar. At time admission, international normalized ratio 2.2, he receiving antihypertensive medication (amlodipin/valsartan 5 mg/80 mg twice daily bisoprolol 1/2 daily) addition atorvastatin daily. We presented intriguing association deficit patient whom repair been done implantation Bower et al. 2018 similar case 67-year-old woman history fall.8 large Tarlov cyst extruding through sacral foramina lumbar spine, brain compatible SS, her physical examination. They proposed probable process abnormality development gradual space. several distinct differences between described our case: (1) advanced age Bower's patient, raising question whether (CAA) siderosis; (2) dominated sensorineural deafness; (3) sulcal involvement finally (4) aorto-valvular under anticoagulation. system, result recurrent hemorrhages (e.g., AVMs, tumors, trauma), may cytotoxic space.9 intradural surgery trauma usually common.10 Unlike case, patients infratentorial slowly progressive irreversible ataxia, hearing loss, myelopathy.6 prevalence pathology diagnosed ranges 47% 56%.4, 11 On sequel dysfunction, 63%–92% adult syndrome.11 An important study 30 17 active xanthochromia elevated RBC counts found 14 6 respectively. authors, therefore, “duropathies” potential SS.11 another series 65 United Kingdom, 40 patients.12 obvious defect syndrome, neurofibromatosis, ankylosing spondylitis SS.12 some observations perioperative endoscopy, fragile bridging veins have noted run layers.13 Exudation blood damaged engorged epidural vessels has speculated possible results SS.13 hypothesize co-occurrence microhemorrhages leading SS. addition, microvascular traumas antihypertension anticoagulation therapy would probably make him susceptible developing tears gradually developed However, existence dentate remains unclear Hemosiderin hallmark neurodegenerative conditions involves basal ganglia substantia nigra. Treatment identification correction source, Deferiprone, lipid-soluble chelator penetrate blood–brain barrier effective improving symptoms.6 currently available data might still insufficient recommend routine use Deferiprone SS.14 Transient episodes (TFNEs) hemisoderin surface exerts irritating effect neurons.5 Important differential diagnoses epileptic seizures transitory ischemic attacks (TIA). Although TIA suspected replacement, young absence additional vascular risk factors, acute dissection, sufficient precluded TIA. TFNEs arise however, mostly setting CAA—the deemed highly unlikely his typical microbleeds. side, singular episode deficit. Singularity does fit TFNEs, spreading onset stereotyped attacks. sensory seizure possibility patient. EEG disseminated carrying done. Several context seem most reasonable presentation. disorders should monitored frequently regarding deficits. Slaven Pikija conceptualized study. Mahdi Safdarian, Pikija, Eugen Trinka, Andreea Toma drafted manuscript. Trinka access verified data. Pfaff Johannes, contributed reviewing finalizing Safdarian final responsibility submit publication. All coauthors provided critical revisions manuscript its supplement approved version Not applicable. reports personal fees EVER Pharma, Marinus, Arvelle, Argenix, Medtronic, Bial-Portela & Ca, Newbridge, GL GlaxoSmithKline, Boehringer Ingelheim, LivaNova, Eisai, UCB, Biogen, Genzyme Sanofi, Actavis. His institution received grants UCB Red Bull, Merck, Bayer, European Union, FWF Osterreichischer Fond zur Wissenschaftsforderung, Bundesministerium für Wissenschaft und Forschung, Jubiläumsfond der Österreichischen Nationalbank outside submitted work. Other authors conflicts interest declare content article. Ethics committee Department Neurology, Neurocritical Care Neurorehabilitation, Christian Doppler University Hospital, Centre Cognitive Neuroscience, Paracelsus Medical paper. 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