Corticobasal Syndrome Due to Superficial Siderosis Caused by Thalamic Cavernoma

Corticobasal syndrome (CBS) is an atypical parkinsonian presentation characterized by heterogeneous clinical features and different underlying neuropathology. Most CBS cases are sporadic; nevertheless, reports of families and isolated individuals with genetically determined CBS have been reported. In this systematic review, we analyze the demographical, clinical, radiological, and anatomopathological features of genetically confirmed cases of CBS. A systematic search was performed using the PubMed, EMBASE, and Cochrane Library databases, included all publications in English from 1 January 1999 through 1 August 2020. We found forty publications with fifty-eight eligible cases. A second search for publications dealing with genetic risk factors for CBS led to the review of eight additional articles. GRN was the most common gene involved in CBS, representing 28 out of 58 cases, followed by MAPT, C9ORF72, and PRNP. A set of symptoms was shown to be significantly more common in GRN-CBS patients, including visuospatial impairment, behavioral changes, aphasia, and language alterations. In addition, specific demographical, clinical, biochemical, and radiological features may suggest mutations in other genes. We suggest a diagnostic algorithm to help in identifying potential genetic cases of CBS in order to improve the diagnostic accuracy and to better understand the still poorly defined underlying pathogenetic process.

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Superficial siderosis by a dural foramen

Neurology and Clinical Neuroscience ◽

10.1111/ncn3.12532 ◽

2021 ◽

Author(s):

Yosuke Aiba ◽

Ryuji Sakakibara ◽

Mitsuya Suzuki ◽

Koichi Nakagawa

Keyword(s):

Superficial Siderosis

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Novel in vivo depiction of optic nerves hemorrhages in child abuse: a 3D-SWI pilot study

Neuroradiology ◽

10.1007/s00234-020-02622-6 ◽

2021 ◽

Author(s):

Giulio Zuccoli

Keyword(s):

Optic Nerve ◽

Mass Effect ◽

Abusive Head Trauma ◽

Superficial Siderosis ◽

Susceptibility Artifacts ◽

Female Ratio ◽

Optic Nerves ◽

Statistical Correlations ◽

Post Traumatic

Abstract Purpose Until now, the diagnosis of optic nerves hemorrhages in abusive head trauma (AHT) has been obtained only in the postmortem setting. The aim of the IRB-approved study was to assess the presence of optic nerves hemorrhages in AHT patients using 3D-SWI. Methods Thirteen children with a final confirmed multidisciplinary diagnosis of AHT underwent coronal and axial 3D-SWI imaging of the orbits. The presence of optic nerve sheath (ONS) hemorrhages was defined by thickening and marked 3D-SWI hypointensity of the ONS, resulting in mass effect upon the CSF space. Optic nerve (ON) hemorrhages were defined by areas of susceptibility artifacts in the ON parenchyma. Superficial siderosis was defined by susceptibility artifact coating the ON. Furthermore, data about post-traumatic deformity of the ONS at the head of the optic nerve were collected. Results The average age of the population was 7.9 ± 5.9 months old. The average GCS was 11.8 ± 4.5. The male to female ratio was 7:6. ONS hemorrhages were identified in 69.2% of cases. Superficial siderosis and ON hemorrhages were identified in 38.5 and 76.9% of cases, respectively. 3D-SWI also depicted traumatic deformity of the ONS at the level of the optic nerve head in 10 cases (76.9%). No statistical correlations were identified between RetCam findings and 3D-SWI findings or GCS and ON hemorrhages. Conclusion This research shows that dedicated MRI with volumetric SWI of the orbits can depict hemorrhages in the ON, ONS, and ONS injury, in AHT victims.

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Superficial siderosis due to dural defect with thoracic spinal cord herniation

Journal of the Neurological Sciences ◽

10.1016/j.jns.2011.07.034 ◽

2012 ◽

Vol 312 (1-2) ◽

pp. 170-172 ◽

Cited By ~ 14

Author(s):

Giorgio B. Boncoraglio ◽

Elena Ballabio ◽

Alessandra Erbetta ◽

Francesco Prada ◽

Mario Savoiardo ◽

...

Keyword(s):

Spinal Cord ◽

Superficial Siderosis ◽

Dural Defect ◽

Thoracic Spinal Cord ◽

Thoracic Spinal ◽

Spinal Cord Herniation

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Superficial siderosis of the brain following unexplained subarachnoid hemorrhage: MRI diagnosis and clinical significance

Neuroradiology ◽

10.1007/bf00596502 ◽

1992 ◽

Vol 34 (5) ◽

pp. 407-410 ◽

Cited By ~ 10

Author(s):

P. M. Bourgouin ◽

D. Tampieri ◽

D. Melancon ◽

R. del Carpio ◽

R. Ethier

Keyword(s):

Subarachnoid Hemorrhage ◽

Clinical Significance ◽

Superficial Siderosis ◽

Mri Diagnosis ◽

The Brain

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Ogilvie's syndrome presented with delirium in an older lady with corticobasal syndrome

Palliative & Supportive Care ◽

10.1017/s1478951521001000 ◽

2021 ◽

pp. 1-3

Author(s):

Feyza Mutlay ◽

Derya Kaya ◽

Ahmet Turan Isik

Keyword(s):

Palliative Care ◽

Health Care Professionals ◽

Colonic Obstruction ◽

Holistic Approach ◽

Abdominal Distension ◽

Corticobasal Syndrome ◽

Ogilvie's Syndrome ◽

Geriatric Population ◽

Ogilvie’S Syndrome ◽

Neurological Illnesses

Abstract Objective Corticobasal syndrome (CBS) is one of an atypical parkinsonian syndromes characterized by extrapyramidal features as well as cortical involvement signs. A variety of factors may lead to delirium in older adults with chronic progressive life-limiting neurological illnesses like CBS. Ogilvie's syndrome (OS) is an acute colonic pseudo-obstruction in which abdominal distension, nausea, vomiting, and constipation can be seen. We report a case of OS identified as the underlying possible cause of delirium in an 80-year-old woman with CBS. We also discuss the importance of holistic approach which is essential to manage the underlying cause and to preserve the quality of life in particular for the frail geriatric population who potentially needs palliative care or already benefits from palliative care. Method An older patient with CBS presented with symptoms similar to that of acute colonic obstruction and subsequently developed delirium. The patient was found to have colonic pseudo-obstruction (OS). Result Neostigmin infusion was therefore given to treat it and delirium was resolved. Significance of results To the best of our knowledge, clinical manifestation of delirium as OS in a patient with CBS has not been previously reported. OS may be superimposed to CBS in older patients, and OS in such patients may play a role as a precipitating factor for the development of delirium. Given the fact that CBS is progressive and rare neurodegenerative disease and almost all of these patients need palliative care, eventually, health-care professionals, especially in palliative care, should be aware of distinctive challenges of life-limiting chronic neurological illnesses, such as conditions that may lead to the development of acute colonic pseudo-obstruction because the rapid treatment of them prevents the use of potentially harmful drugs, surgical procedures, or inappropriate interventions.

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