Presenting symptoms and natural history of Wilson disease

1987 ◽  
Vol 146 (3) ◽  
pp. 261-265 ◽  
Author(s):  
T. Saito
Keyword(s):  
Natural History ◽  
Wilson Disease ◽  
Presenting Symptoms ◽  
History Of

Adult Presentation of a Familial-Associated Vein of Galen Aneurysmal Malformation: Case Report

Neurosurgery ◽  
2010 ◽  
Vol 67 (6) ◽  
pp. E1845-E1851 ◽  
Author(s):  
David S Xu ◽  
Asad A Usman ◽  
Michael C Hurley ◽  
Christopher S Eddleman ◽  
Bernard R Bendok
Keyword(s):  
Case Report ◽  
Natural History ◽  
Vein Of Galen ◽  
Review Of The Literature ◽  
Time Resolved ◽  
Presenting Symptoms ◽  
First Case ◽  
Life Threatening ◽  
History Of ◽  
Asymptomatic Adult

Abstract BACKGROUND AND IMPORTANCE: Vein of Galen aneurysmal malformations (VGAMs) arise from persistent arteriovenous shunting from primitive choroidal vessels into the median prosencephalic vein of Markowski, the embryonic precursor of the vein of Galen. VGAMs rarely present past infancy, and their natural history in adults is unknown. We report the first case of a familial-associated VGAM in an asymptomatic adult female patient. The clinical features of this case are presented alongside a systematic review of the literature on adult VGAM cases to assess the natural history, clinical management, and genetic basis of this rare neurovascular lesion. CLINICAL PRESENTATION: A previously healthy 44-year-old woman with a family history of a VGAM in a stillborn presented with an 8-week onset of dizziness and vertigo that spontaneously resolved. Time-resolved magnetic resonance angiography identified a choroidal VGAM. No intervention was undertaken at this time because of the patient's asymptomatic status after 9 months of follow-up. CONCLUSION: Based on our review of the literature, this is the first case report of a familial-associated VGAM in an adult patient and suggests that VGAM development can be genetically linked. Of 15 adult VGAM cases previously reported, all patients were either symptomatic or treated, thus precluding determination of VGAM natural history in adults. Patient outcomes correlated with the severity of presenting symptoms, which ranged from asymptomatic to immediately life-threatening. We hypothesize that self-selection may render VGAMs to be more benign for them to persist past childhood. Further investigation of the molecular biology underlying VGAM development is warranted.

scholarly journals Filum terminale lipomas: imaging prevalence, natural history, and conus position

2014 ◽  
Vol 13 (5) ◽  
pp. 559-567 ◽  
Author(s):  
Michael J. Cools ◽  
Wajd N. Al-Holou ◽  
William R. Stetler ◽  
Thomas J. Wilson ◽  
Karin M. Muraszko ◽  
...  
Keyword(s):  
Natural History ◽  
Incidental Finding ◽  
Tethered Cord ◽  
Filum Terminale ◽  
Presenting Symptoms ◽  
Asymptomatic Patients ◽  
History Analysis ◽  
History Of ◽  
Clinical Records

Object Filum terminale lipomas (FTLs) are being identified with increasing frequency due to the increasing utilization of MRI. Although an FTL may be associated with tethered cord syndrome (TCS), in many cases FTLs are diagnosed incidentally in patients without any symptoms of TCS. The natural history of FTLs is not well defined. Methods The authors searched the clinical and imaging records at a single institution over a 14-year interval to identify patients with FTLs. For patients with an FTL, the clinical records were reviewed for indication for imaging, presenting symptoms, perceived need for surgery, and clinical outcome. A natural history analysis was performed using all patients with more than 6 months of clinical follow-up. Results A total of 436 patients with FTL were identified. There were 217 males and 219 females. Of these patients, 282 (65%) were adults and 154 (35%) were children. Symptoms of TCS were present in 22 patients (5%). Fifty-two patients underwent surgery for FTL (12%). Sixty-four patients (15%) had a low-lying conus and 21 (5%) had a syrinx. The natural history analysis included 249 patients with a mean follow-up time of 3.5 years. In the follow-up period, only 1 patient developed new symptoms. Conclusions Filum terminale lipomas are a common incidental finding on spinal MRI, and most patients present without associated symptoms. The untreated natural history is generally benign for asymptomatic patients.

Prevalence and natural history of arachnoid cysts in adults

2013 ◽  
Vol 118 (2) ◽  
pp. 222-231 ◽  
Author(s):  
Wajd N. Al-Holou ◽  
Samuel Terman ◽  
Craig Kilburg ◽  
Hugh J. L. Garton ◽  
Karin M. Muraszko ◽  
...  
Keyword(s):  
Natural History ◽  
Brain Mri ◽  
Arachnoid Cysts ◽  
Consecutive Series ◽  
Middle Fossa ◽  
Presenting Symptoms ◽  
History Analysis ◽  
Number Of Patients ◽  
History Of

Object Arachnoid cysts are a frequent finding on intracranial imaging. The prevalence and natural history of these cysts in adults are not well defined. Methods We retrospectively reviewed the electronic medical records of a consecutive series of adults who underwent brain MRI over a 12-year interval to identify those with arachnoid cysts. The MRI studies were reviewed to confirm the diagnosis. For those patients with arachnoid cysts, we evaluated presenting symptoms, cyst size, and cyst location. Patients with more than 6 months' clinical and imaging follow-up were included in a natural history analysis. Results A total of 48,417 patients underwent brain MRI over the study period. Arachnoid cysts were identified in 661 patients (1.4%). Men had a higher prevalence than women (p < 0.0001). Multiple arachnoid cysts occurred in 30 patients. The most common locations were middle fossa (34%), retrocerebellar (33%), and convexity (14%). Middle fossa cysts were predominantly left-sided (70%, p < 0.001). Thirty-five patients were considered symptomatic and 24 underwent surgical treatment. Sellar and suprasellar cysts were more likely to be considered symptomatic (p < 0.0001). Middle fossa cysts were less likely to be considered symptomatic (p = 0.01. The criteria for natural history analysis were met in 203 patients with a total of 213 cysts. After a mean follow-up of 3.8 ± 2.8 years (for this subgroup), 5 cysts (2.3%) increased in size and 2 cysts decreased in size (0.9%). Only 2 patients developed new or worsening symptoms over the follow-up period. Conclusions Arachnoid cysts are a common incidental finding on intracranial imaging in all age groups. Although arachnoid cysts are symptomatic in a small number of patients, they are associated with a benign natural history for those presenting without symptoms.

Natural History of Arteriovenous Malformations

2008 ◽  
Vol 139 (2_suppl) ◽  
pp. P41-P42
Author(s):  
James Y Suen ◽  
Lisa M Buckmiller ◽  
Chun-Yang Fan ◽  
Gal Shafirstein ◽  
Robert Glade
Keyword(s):  
Quality Of Life ◽  
Natural History ◽  
Surgical Resection ◽  
Healthcare Providers ◽  
Previous Treatment ◽  
Insurance Companies ◽  
Preoperative Embolization ◽  
Presenting Symptoms ◽  
History Of

Objective 1) To demonstrate the natural history of arteriovenous malformation (AVMs) when left untreated or inadequately managed. 2) To demonstrate the need for major treatment to patients, families, healthcare providers, and insurance companies. Methods Records from 10 of 50 representative patients treated at University of Arkansas for Medical Sciences (UAMS) for advanced AVMs were reviewed for age at presentation, gender, presenting symptoms, previous treatment, disease course, and post-presentation management. Patients were asked if quality of life had improved after treatment at UAMS Facial photos from childhood were obtained and compared with photos taken at time of presentation. Results 10 patients (7 male, 3 female, range 21–46 years) received treatment. All patients presented with bleeding, pain and/or facial destruction. 6 of 10 patients received previous embolization. No patients had undergone previous surgical resection. All were informed by a previous physician that the disease was incurable or treatment options had been exhausted. All patients experienced subsequent worsening of symptoMS All patients were treated at UAMS with preoperative embolization followed by surgical resection and required multiple surgeries to remove persistent AVM. All patients indicated quality of life improved after embolization/surgical resection. Comparison of photos revealed progression of disease in all cases marked by facial destruction and deformity. Conclusions AVMs display a progressive and destructive nature when left untreated or inadequately managed. Natural history can be used to demonstrate to patients, families, and healthcare providers the seriousness of disease and convince insurance companies that radical treatment is typically necessary to obtain control or cure.

Natural history of ventriculomegaly in adults: a cluster analysis

2020 ◽  
Vol 132 (3) ◽  
pp. 741-748 ◽  
Author(s):  
Claudia L. Craven ◽  
Roshini Ramkumar ◽  
Linda D’Antona ◽  
Simon D. Thompson ◽  
Lewis Thorne ◽  
...  
Keyword(s):  
Cluster Analysis ◽  
Natural History ◽  
Normal Pressure ◽  
Surgical Interventions ◽  
Presenting Symptoms ◽  
Symptomatic Group ◽  
Life Threatening ◽  
History Of ◽  
Indication For Treatment ◽  
Insight Into

OBJECTIVEChronic ventriculomegaly in the absence of raised intracranial pressure (ICP) is a known entity in adult hydrocephalus practice. The natural history and indication for treatment is, however, poorly defined. A highly heterogeneous group, some adults with ventriculomegaly are asymptomatic, while others have life-threatening deteriorations. The authors hypothesized that the various presentations can be subtyped and represent different stages of decompensation. A cluster analysis was performed on a cohort of patients with chronic ventriculomegaly with the aim of elucidating typical clinical characteristics and outcomes in chronic ventriculomegaly in adults.METHODSData were collected from 79 patients with chronic ventriculomegaly referred to a single center, including demographics, presenting symptoms, and 24-hour ICP monitoring (ICPM). A statistical cluster analysis was performed to determine the presence of subgroups.RESULTSFour main subgroups and one highly dissimilar group were identified. Patients with ventriculomegaly commonly have a perinatal event followed by one of four main presentations: 1) incidental ventriculomegaly with or without headache; 2) highly symptomatic presentation (including reduced consciousness) and raised ICP; 3) early presenting with symptoms of headache and nausea (with abnormal pulsatility); and 4) late presenting with features common to normal pressure hydrocephalus. Each symptomatic group has characteristic radiological features, ICPM, and responses to treatment.CONCLUSIONSCluster analysis has identified subgroups of adult patients with ventriculomegaly. Such groups may represent various degrees of decompensation. Surgical interventions may not be equally effective across the subgroups, presenting an avenue for further research. The identified subtypes provide further insight into the natural history of this lesser studied form of hydrocephalus.

How is the moral stance related to the intentional stance and group thinking?

2020 ◽  
Vol 43 ◽  
Author(s):  
Hannes Rakoczy
Keyword(s):  
Natural History ◽  
Social Cognitive ◽  
Intentional Stance ◽  
Cognitive Capacities ◽  
Shared Intentionality ◽  
History Of ◽  
Group Thinking ◽  
Moral Stance

Abstract The natural history of our moral stance told here in this commentary reveals the close nexus of morality and basic social-cognitive capacities. Big mysteries about morality thus transform into smaller and more manageable ones. Here, I raise questions regarding the conceptual, ontogenetic, and evolutionary relations of the moral stance to the intentional and group stances and to shared intentionality.

Natural history of helicobacter pylori infection from infancy to adulthood: A 21-year follow-up cohort study

2001 ◽  
Vol 120 (5) ◽  
pp. A128-A128 ◽  
Author(s):  
H MALATY ◽  
D GRAHAM ◽  
A ELKASABANY ◽  
S REDDY ◽  
S SRINIVASAN ◽  
...  
Keyword(s):  
Helicobacter Pylori ◽  
Cohort Study ◽  
Natural History ◽  
Helicobacter Pylori Infection ◽  
History Of

Incidence and natural history of HCV infection in Northern Italy: Results of an epidemiological study

2001 ◽  
Vol 120 (5) ◽  
pp. A366-A366
Author(s):  
C MAZZEO ◽  
F AZZAROLI ◽  
A COLECCHIA ◽  
S DISILVIO ◽  
A DORMI ◽  
...  
Keyword(s):  
Natural History ◽  
Epidemiological Study ◽  
Northern Italy ◽  
Hcv Infection ◽  
History Of
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