Hyperkinetic manifestations in superficial siderosis: evidence for pathogenic network disruption
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Hyperkinetic manifestations in superficial siderosis: evidence for pathogenic network disruption Antonio De Mase 1 & Dario Saracino 2 & Vincenzo Andreone 3 Received: 21 May 2020 / Accepted: 25 September 2020 # Fondazione Società Italiana di Neurologia 2020
Abstract Superficial siderosis (SS) of central nervous system is a rare condition characterized by hemosiderin deposition diffusely involving supratentorial and infratentorial compartments. SS usually manifests with ataxia and sensorineural hearing loss. Basal ganglia are almost always spared by the degenerative process, and movement disorders are only rarely reported. We describe the case of an aged woman with apparently idiopathic SS presenting with cerebellar ataxia, hearing loss, and orofacial dyskinesias. Together with some previously reported patients affected by SS and presenting with dystonic manifestations, our case reinforces the current hypothesis supporting a wide network disruption, rather than a direct basal ganglia damage, as the likely underlying cause of some dystonic syndromes. Keywords Superficial siderosis . Movement disorders . Orofacial dyskinesias . Dystonia . MRI
Introduction Superficial siderosis (SS) of the central nervous system (CNS) is a rare condition characterized by the deposition of hemoglobin-breakdown products along the superficial layers of brain, cerebellum, brainstem, and spinal cord, which trigger a degenerative process likely related to increased oxidative stress [1]. SS is associated with many conditions predisposing to bleeding, such as tumors, cerebral amyloid angiopathy (CAA), vascular malformations, and dural defects. However, a definite cause is not identifiable in a significant proportion of cases [2].
Antonio De Mase and Dario Saracino contributed equally to this work. * Vincenzo Andreone [email protected] 1
Acute Neurovascular Treatment Unit, IRCCS Neuromed, Pozzilli, Italy
2
Paris Brain Institute (ICM), Inserm U1127, CNRS UMR 7225, AP-HP - Pitié-Salpêtrière Hospital, Sorbonne University, Paris, France
3
Neurology and Stroke Unit, Department of Medical Sciences, AORN Sant’Anna e San Sebastiano Hospital, Via Ferdinando Palasciano, Caserta, Italy
Depending on the region affected by the pathological process, SS may have various presentations, the most frequent of which are sensorineural hearing loss and cerebellar ataxia. Less common features are pyramidal syndrome, cranial nerve dysfunctions, and cognitive impairment. Since the pathological findings result from deposition of iron beneath the surfaces of CNS tissues that are typically rinsed by CSF, basal ganglia (BG) are reasonably spared and extrapyramidal movement disorders, apart from cerebellar ataxia, are actually not among the usual manifestations of SS. Here, we report a case of diffuse and massive SS of the CNS presenting with spontaneous orofacial dyskinesias (OFD) associated with typical symptoms such as ataxia and hearing loss. We also provide a literature review of movement disorders in SS and speculate upon a unified patho
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