scholarly journals Clinical Course and Angioarchitecture of Cerebrofacial Arteriovenous Metameric Syndromes

2002 ◽  
Vol 8 (3) ◽  
pp. 251-264 ◽  
Author(s):  
P. Jiarakongmun ◽  
A. Alvarez ◽  
G. Rodesch ◽  
P. Lasjaunias
Keyword(s):  
Natural History ◽  
Neural Crest ◽  
Arteriovenous Malformations ◽  
Clinical Presentation ◽  
Clinical Course ◽  
Rare Condition ◽  
Neural Crest Origin ◽  
Optic Pathways ◽  
Vascular Structures ◽  
Suspicious Case

Bonnet-Dechaume-Blanc or Wyburn-Mason disease has been considered a rare condition and mysterious disease for the last century. It was recently introduced as a spectrum of disease expression of cerebrofacial vascular structures related by the same neural crest origin, named “Cerebrofacial Arteriovenous Malformations Syndrome” (CAMS) by JJ Bhattacharya. We illustrate the special observations of reported cases in the literature and our three demonstrative cases of CAMS in terms of natural history including progressive appearance of the AVMs, clinical presentation, angioarchitecture, clinical risk of retinal AVMs, AVMs along the optic pathways, intracranial AVMs and proper investigation in the suspicious case.

scholarly journals Cardiovascular involvement in alpha-n-acetyl neuraminidase deficiency syndromes (sialidosis type I and II)

2021 ◽  
pp. 1-3
Author(s):  
Priyanka Prasanna ◽  
Chenni S. Sriram ◽  
Sarah H. Rodriguez ◽  
Utkarsh Kohli
Keyword(s):  
Autosomal Recessive ◽  
Ventricular Dysfunction ◽  
Clinical Presentation ◽  
Clinical Course ◽  
Rare Condition ◽  
Autosomal Recessive Disorder ◽  
Left Ventricular ◽  
Type I ◽  
Neonatal Onset ◽  
Cardiovascular Involvement

Abstract Sialidosis, a rare autosomal recessive disorder, is caused by a deficiency of NEU1 encoded enzyme alpha-N-acetyl neuraminidase. We report a premature male with neonatal-onset type II sialidosis which was associated with left ventricular dysfunction. The clinical presentation and subsequent progression which culminated in his untimely death at 16 months of age are succinctly described. Early-onset cardiovascular involvement as noted in this patient is not well characterised. The case report is supplemented by a comprehensive review of the determinants, characteristics, and the clinical course of cardiovascular involvement in this rare condition.

scholarly journals Multifocal and Metameric Spinal Cord Arteriovenous Malformations

1999 ◽  
Vol 5 (1) ◽  
pp. 27-34 ◽  
Author(s):  
Y. Matsumaru ◽  
S. Pongpech ◽  
J. Laothamas ◽  
H. Alvarez ◽  
G. Rodesch ◽  
...  
Keyword(s):  
Spinal Cord ◽  
Neural Crest ◽  
Arteriovenous Malformations ◽  
Vascular Malformations ◽  
Vascular Lesions ◽  
Frequent Type ◽  
Associated Lesions ◽  
Neural Crest Origin ◽  
Cord Lesion

We describe 19 (16.0%) multiple vascular malformations (AVMs) in 119 spinal cord arteriovenous malformations (SCAVMs). The associated lesions were eight vertebral vascular malformations, two cutaneous, four limbs, four radicular AVMs, three bifocal SCAVMs; one patient had a bifocal cord lesion associated with vertebral and limb localisations. Various syndromic associations were seen: nine Cobb, two Klippel-Trenaunay-Weber, one Parkes Weber. An additional subgroup of unclassified associations is constituted by seven cases with bifocal intradural uni or multimetamerk lesions. In our SCAVMs series, the incidence of multiple vascular lesions is high, in particular multifocal intradural malformations. Metameric distribution is the most frequent type of multiplicity. Identification of the myelomeric level involved in SCAVM allows segmental link between various lesions of mesodermal or neural crest origin to be discussed.

Clinical presentation, natural history and outcomes of intramedullary spinal cord cavernous malformations

2019 ◽  
Vol 90 (6) ◽  
pp. 695-703 ◽  
Author(s):  
Anshit Goyal ◽  
Lorenzo Rinaldo ◽  
Redab Alkhataybeh ◽  
Panagiotis Kerezoudis ◽  
Mohammed Ali Alvi ◽  
...  
Keyword(s):  
Natural History ◽  
Surgical Resection ◽  
Clinical Presentation ◽  
Clinical Course ◽  
Univariate Analysis ◽  
Case Series ◽  
Intramedullary Spinal Cord ◽  
Cavernous Malformations ◽  
Increased Risk

ObjectiveThere is a paucity of literature investigating the clinical course of patients with spinal intramedullary cavernous malformations (ISCMs). We present a large case series of ISCMs to describe clinical presentation, natural history and outcomes of both surgical and conservative management.MethodsWe retrospectively reviewed the clinical course of patients diagnosed with ISCMs at our institution between 1995 and 2016. Haemorrhage was defined as clinical worsening in tandem with imaging changes visualised on follow-up MRI. Outcomes assessed included neurological status and annual haemorrhage rates.ResultsA total of 107 patients met inclusion criteria. Follow-up data were available for 85 patients. While 21 (24.7%) patients underwent immediate surgical resection, 64 (75.3%) were initially managed conservatively. Among this latter group, 16 (25.0%) suffered a haemorrhage during follow-up and 11 (17.2%) required surgical resection due to interval bleeding or neurological worsening. The overall annual risk of haemorrhage was 5.5% per person year. The rate among patients who were symptomatic and asymptomatic on presentation was 9.5% and 0.8%, respectively. Median time to haemorrhage was 2.3 years (0.1–12.3). Univariate analysis identified higher ISCM size (p=0.024), history of prior haemorrhage (p=0.013) and presence of symptoms (p=0.003) as risk factors for subsequent haemorrhage. Multivariable proportional hazards analysis revealed presence of symptoms to be independently associated with haemorrhage during follow-up (HR 9.39, CI 1.86 to 170.8, p=0.013).ConclusionLarge, symptomatic ISCMs appear to be at increased risk for subsequent haemorrhage. Surgery may be considered in such lesions to prevent rebleeding and subsequent neurological worsening.

scholarly journals The Natural History and Clinical Presentation of Cervical Spondylotic Myelopathy

2012 ◽  
Vol 2012 ◽  
pp. 1-4 ◽  
Author(s):  
Chester K. Yarbrough ◽  
Rory K. J. Murphy ◽  
Wilson Z. Ray ◽  
Todd J. Stewart
Keyword(s):  
Spinal Cord ◽  
Natural History ◽  
Cervical Spondylotic Myelopathy ◽  
Clinical Presentation ◽  
Clinical Course ◽  
The United States ◽  
Cord Compression ◽  
Asymptomatic Patients ◽  
History Of ◽  
Electrophysiologic Studies

Cervical spondylotic myelopathy (CSM) refers to impaired function of the spinal cord caused by degenerative changes of the cervical spine resulting in spinal cord compression. It is the most common disorder in the United States causing dysfunction of the spinal cord. A literature review of the natural history of mild cervical myelopathy is undertaken. Clinical presentation and current concepts of pathophysiology are also discussed. While many patients with mild signs of CSM will stabilize or improve over time with conservative treatment, the clinical course of a specific individual patient cannot be predicted. Asymptomatic patients with cervical stenosis and abnormalities on electrophysiologic studies may be at higher risk for developing myelopathy.

Bilateral Parietal Arteriovenous Malformations: Report of a Case

Neurosurgery ◽  
1983 ◽  
Vol 13 (5) ◽  
pp. 587, 590-588, 592 ◽  
Author(s):  
James L. Stone ◽  
Robert M. Crowell ◽  
Blaine M. Lisner ◽  
Mohammad Naseem ◽  
John B. Oldershaw
Keyword(s):  
Intracranial Pressure ◽  
Natural History ◽  
Cerebral Angiography ◽  
Arteriovenous Malformations ◽  
Clinical Presentation ◽  
Mass Effect ◽  
Increased Intracranial Pressure ◽  
Tentorial Herniation ◽  
History Of

Abstract A patient with bilateral parietal arteriovenous malformations (AVMs) is reported. The clinical presentation included seizures, coma, and signs of tentorial herniation. After the evacuation of a large left intraparietal hematoma, cerebral angiography identified a small left parietal AVM, which was excised. Mass effect and increased intracranial pressure were present at the time of the initial angiography, and the presence of a right parietal AVM was not appreciated. Postoperative cerebral angiography to document excision of the left parietal AVM then disclosed the small right parietal AVM, which was later excised. The patient has recovered very well. The natural history of AVMs and the occurrence of multiple AVMs are discussed.

Adenoid Cystic Carcinoma of Lacrimal Gland

JMS SKIMS ◽  
2012 ◽  
Vol 15 (1) ◽  
pp. 76-77
Author(s):  
Mohd Athar ◽  
K S Sodhi ◽  
S Kala ◽  
R K Maurya ◽  
S Chauhan ◽  
...  
Keyword(s):  
Local Recurrence ◽  
Natural History ◽  
Adenoid Cystic Carcinoma ◽  
Salivary Glands ◽  
Hard Palate ◽  
Clinical Course ◽  
Fatal Outcome ◽  
Minor Salivary Glands ◽  
Adenoid Cystic ◽  
History Of

Adenoid cystic carcinoma is a relatively uncommon tumour of salivary, glands and is characterised by a prolonged clinical course and a fatal outcome. It was first described as `cylindroma' by Billroth in 1859. Half of these tumors occur in glandular tissues other than the major salivary glands; principally in the hard palate, but they can also arise in the tongue and minor salivary glands. Unusual locations include the external auditory canal, nasopharynx, lacrimal glands, breast, vulva, esophagus, cervix and Cowper glands. The long natural history of this tumor and its tendency for local recurrence are well known. JMS 2012;15(1):76-77.

scholarly journals Erythromelanosis Follicularis Faciei et Colli: A Case Report in a Caucasian Male and Brief Review of the Literature

2020 ◽  
Vol 12 (3) ◽  
pp. 231-235
Author(s):  
Carl Maximilian Thielmann ◽  
Wiebke Sondermann
Keyword(s):  
Case Report ◽  
Family History ◽  
Clinical Presentation ◽  
Rare Condition ◽  
Unknown Etiology ◽  
Review Of The Literature ◽  
Caucasian Male

Erythromelanosis follicularis faciei et colli, a rare condition of unknown etiology, was first described by Kitamura et al. from Japan in 1960. It is characterized by a triad consisting of well-demarcated erythema, hyperpigmentation, and follicular papules. We report the case of a 50-year-old Caucasian male, who had asymptomatic symmetrical facial lesions since the age of 42. His family history was unremarkable. Published erythromelanosis follicularis faciei et colli cases of the last 10 years are summarized in this report to demonstrate the variability and differences in the clinical presentation of this uncommon diagnosis.

scholarly journals Endovascular Considerations in Traumatic Injury of the Carotid and Vertebral Arteries

2021 ◽  
Vol 38 (01) ◽  
pp. 053-063
Author(s):  
Ananth K. Vellimana ◽  
Jayson Lavie ◽  
Arindam Rano Chatterjee
Keyword(s):  
Natural History ◽  
Clinical Presentation ◽  
Traumatic Injury ◽  
Classification Systems ◽  
Endovascular Techniques ◽  
Traumatic Injuries ◽  
Cerebrovascular Injury ◽  
Vertebral Arteries ◽  
Carotid And Vertebral Arteries

AbstractCervical carotid and vertebral artery traumatic injuries can have a devastating natural history. This article reviews the epidemiology, mechanisms of injury, clinical presentation, and classification systems pertinent to consideration of endovascular treatment. The growing role of modern endovascular techniques for the treatment of these diseases is presented to equip endovascular surgeons with a framework for critically assessing patients presenting with traumatic cervical cerebrovascular injury.

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