Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026838 (spasticity)
 6,471 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We present 3 cases and a review of the literature to demonstrate the current state of clinical diagnosis and therapy of superficial siderosis of the central nervous system. Typical symptoms were progressive cerebellar ataxia, spasticity and hearing loss. Repeated subarachnoid hemorrhage was indicated by persistent xanthochromia of the cerebrospinal fluid and confirmed by the presence of erythrophages, siderophages and iron-containing pigments. Deposition of free iron and hemosiderin in pial and subpial structures leads to intoxication of the central nervous system and represents the pathophysiological mechanism of superficial siderosis. Hypointensity of the marginal zones of the central nervous system on T2 weighted MR images indicates an iron-induced susceptibility effect and seems pathognomonic for superficial siderosis. In 39 of the 43 previously described cases superficial siderosis was verified by biopsy or autopsy. Today magnetic resonance imaging enables diagnosis at an early stage of the disease. Therapeutic management requires the elimination of any potential source of bleeding. In patients with unknown etiology no proofed therapy is yet available.
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PMID:Superficial siderosis of the central nervous system: report of three cases and review of the literature. 140 94

Superficial siderosis of the central nervous system (SSCN) is a very rare disorder. The clinical syndrome of SSNC consists of sensorineural hearing loss, cerebellar ataxia and myelopathy. The clinical syndrome together with the typical appearance on magnetic resonance imaging (MRI) of hyposignal intensity along the leptomeninges in T2 sequence permit the diagnosis of SSCN. A 58 year-old man who has a history of chronic progressive hearing loss and gait instability for 5 years is presented. The neurological examination revealed bilateral sensorineural hearing loss, cerebellar ataxia and mild spasticity of the lower extremities. MRI showed classical superficial siderosis in the form of hyposignal intensity along the leptomeninges in T2 sequence. The prominent sites of hemosiderin deposition in this case were cerebellar vermis, trigeminal nerves, vestibulocochlear nerves, around the brain stem and spinal cord surface. Cerebrospinal fluid findings confirmed chronic subarachnoid hemorrhage but bleeding site could not be demonstrated. There is no specific treatment available for idiopathic SSCN.
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PMID:Idiopathic superficial siderosis: a case report. 1552 Dec 45