1/3. Transthyretin amyloidosis and superficial siderosis of the CNS.OBJECTIVE: To describe a previously unreported clinical and radiologic presentation of hereditary transthyretin (TTR)-related amyloidosis. BACKGROUND: Unexplained cerebellar ataxia, pyramidal syndrome, and hearing loss are observed in some patients with TTR-related amyloidoses. methods: We performed clinical, radiologic, and pathologic examinations of three family members with TTR-related (Ala36Pro) amyloidosis. RESULTS: The patient was a 69-year-old woman with vitreal amyloid deposits, progressive sensorineural deafness, cerebellar ataxia, pyramidal syndrome, and recurrent transient neurologic symptoms. Cranial MRI showed symmetric thin rims of low signal intensity in T2- and T2*-weighted images in the cortex of the sylvian fissures, of the cerebellar hemispheres and vermis, and in the quadrigeminal plate consistent with superficial siderosis of the CNS. Her older daughter had vitreal amyloid deposits, acute brown-sequard syndrome at C4, acute sensorineural deafness, and recurrent transient neurologic symptoms. Cranial MRI at age 48 revealed a rim of low signal intensity in T2- and T2*-weighted images in the superior vermis folia and the right sylvian cortex. In addition, two small hemosiderin deposits were seen in the left parietal cortex. Lumbar puncture yielded colorless CSF with increased ferritin content and was followed by fourth ventricle hemorrhage. Cranial MRI 11 months later showed progression of brain hemosiderin deposits. The younger daughter had vitreal deposits, sensorimotor polyneuropathy, and acute sensorineural hearing but no evidence of siderosis on cranial MRI. She died at age 43 years of posterior fossa subarachnoid hemorrhage, and the neuropathologic examination showed amyloid deposition in the leptomeningeal spaces and vessels. CONCLUSION: Transthyretin-related amyloidosis may cause superficial siderosis of the CNS through subarachnoid bleeding related to meningovascular amyloid deposition.- - - - - - - - - - ranking = 1keywords = puncture (Clic here for more details about this article) |
2/3. Surgical resection of a cerebral arteriovenous malformation for treatment of superficial siderosis: case report.BACKGROUND: To our knowledge, there are only two reported cases of cerebral arteriovenous malformation associated with superficial siderosis. In both cases, the patients were asymptomatic and were discovered on retrospective review of magnetic resonance imaging. CASE DESCRIPTION: We describe a case of superficial siderosis in a 47-year-old male with a remote history of closed head injury that presented with progressive hearing loss, cerebellar ataxia, and urinary incontinence. Lumbar puncture was indicative of active subarachnoid bleeding. cerebral angiography revealed a small vascular malformation that was resected.RESULTS: Pathological examination confirmed the diagnosis of the arteriovenous malformation. Six months after surgery the patient is neurologically stable with no further progression of clinical signs or symptoms. CONCLUSIONS: We report the first case of surgical resection of an intracranial arteriovenous malformation for the treatment of superficial siderosis. We emphasize the necessity of a detailed evaluation when superficial siderosis is suspected to localize and resect potential bleeding sources, because the disease is progressive and often irreversible.- - - - - - - - - - ranking = 1keywords = puncture (Clic here for more details about this article) |
3/3. Spinal meningeal melanocytoma presenting with superficial siderosis of the central nervous system. Case report and review of the literature.Meningeal melanocytoma is a benign melanocytic tumor that originates most frequently from the melanocytes in the posterior fossa or along the spinal cord. This tumor generally occurs as an extraaxial mass that compresses adjacent neural structures to produce various neurological signs. The authors describe an unusual case in which a patient with a meningeal melanocytoma located at the thoracic spinal cord presented with superficial siderosis of the central nervous system (CNS). Extensive neuroradiological studies identified the presence of a spinal cord tumor, and postsurgical histological examination revealed the meningeal melanocytoma as a bleeding source. After surgery, lumbar puncture demonstrated normalization of the patient's cerebrospinal fluid; however, no neurological improvement occurred. The neurological deficits seem irreversible. Meningeal melanocytoma is biologically benign and can be cured by complete surgical resection; therefore, this tumor should be included in the differential diagnosis of pigmented lesions of the CNS. The authors reviewed 14 cases of well-documented meningeal melanocytoma in the literature and discuss the clinical, radiological, and pathological features of the present case to emphasize the importance of early diagnosis and identification of the source of bleeding in patients with superficial siderosis.- - - - - - - - - - ranking = 1keywords = puncture (Clic here for more details about this article) |