Aggressive course of multiple de novo cavernous malformations

2011 ◽  
Vol 115 (6) ◽  
pp. 1175-1178 ◽  
Author(s):  
Kelly D. Flemming ◽  
George K. Bovis ◽  
Fredric B. Meyer
Keyword(s):  
De Novo ◽  
Clinical Symptoms ◽  
Cavernous Malformation ◽  
Correct Diagnosis ◽  
Cavernous Malformations ◽  
History Of ◽  
Hemorrhage Risk ◽  
Hemorrhagic Lesion ◽  
One Year ◽  
Risk Of Hemorrhage

The risk of hemorrhage from an intracerebral cavernous malformation has been estimated at 2%–4% per year. In patients with multiple cavernous malformations, typically there are 1 or 2 dominant lesions that result in symptoms. This report highlights an unusual case of recurrent hemorrhage from de novo cavernous malformations. This 35-year-old man had a generalized seizure in 2007. Magnetic resonance imaging performed at the time showed multiple hemorrhagic lesions suggestive of cavernous malformations. Two years later, the patient had clinical symptoms referable to a midbrain hemorrhage. This lesion was not present on 2007 standard and gradient echo images. One year later, the patient had another clinical hemorrhage at the cervical medullary junction. This lesion was also not present on earlier imaging. Genetic testing was negative for the known familial types of cavernous malformation. A lesion was biopsied to ensure correct diagnosis, and the results were pathologically consistent with a cavernous malformation. The patient had a fourth clinical hemorrhage in 2011 from a separate lesion. All hemorrhage symptoms were mild, and he returned to normal functioning and work after each hemorrhage. This case highlights several unusual features of the known natural history of intracerebral cavernous malformations. In this case, resection of the hemorrhagic lesion would not have altered future hemorrhage risk since each new hemorrhage was from a de novo lesion.

scholarly journals De novo formation of a central nervous system cavernous malformation: implications for predicting risk of hemorrhage

1997 ◽  
Vol 3 (3) ◽  
pp. E9
Author(s):  
Paul W. Detwiler ◽  
Randall W. Porter ◽  
Joseph M. Zabramski ◽  
Robert F. Spetzler
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
De Novo ◽  
Cavernous Malformation ◽  
Cavernous Malformations ◽  
Common Assumption ◽  
History Of ◽  
The Central Nervous System ◽  
Risk Of Hemorrhage

The authors present a documented sporadic de novo cavernous malformation of the central nervous system in a patient undergoing follow-up magnetic resonance imaging after resection of an acoustic neuroma. The authors believe that this is the first report of a de novo cavernous malformation in a patient without a familial history of this disease or a history of treatment with cranial radiation. The occurrence of de novo lesions invalidates the common assumption that cavernous malformations are congenital lesions. The use of this assumption to calculate bleeding risks retrospectively in patients with cavernous malformations is likely to underestimate the risk of symptomatic hemorrhage significantly. Consequently, the de novo formation of cavernous malformations may be more common than appreciated and may explain the higher bleeding rates reported in prospective compared with retrospective studies of these lesions.

De novo formation of a central nervous system cavernous malformation: implications for predicting risk of hemorrhage

1997 ◽  
Vol 87 (4) ◽  
pp. 629-632 ◽  
Author(s):  
Paul W. Detwiler ◽  
Randall W. Porter ◽  
Joseph M. Zabramski ◽  
Robert F. Spetzler
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
De Novo ◽  
Cavernous Malformation ◽  
Cavernous Malformations ◽  
Content Type ◽  
History Of ◽  
The Central Nervous System ◽  
Risk Of Hemorrhage

✓ The authors present a documented sporadic de novo cavernous malformation of the central nervous system (CNS) in a patient undergoing follow-up magnetic resonance imaging after resection of an acoustic neuroma. The authors believe that this is the first report of a de novo cavernous malformation in a patient without a familial history of this disease or a history of treatment with cranial radiation. The occurrence of de novo lesions invalidates the common assumption that cavernous malformations are congenital lesions. The use of this assumption to calculate bleeding risks retrospectively in patients with cavernous malformations is likely to underestimate the risk of symptomatic hemorrhage significantly. Consequently, the de novo formation of cavernous malformations may be more common than appreciated and may explain the higher bleeding rates reported in prospective compared with retrospective studies of these lesions.

Abstract 17352: Differences in Clinical Characteristics, Risk Factors, Rate of Recurrence and 1-year Outcome Between Acute Heart Failure Patients With Stroke or TIA and Those Without This Co-morbidity. Results From the Gulf aCute heArt failuRe rEgistry (gulf Care)

Circulation ◽  
2014 ◽  
Vol 130 (suppl_2) ◽  
Author(s):  
Mohammed A Al Hashemi ◽  
Kadhim Sulaiman ◽  
Jassim Al-Suwaidi ◽  
Khalid F AlHabib ◽  
Husam AlFaleh ◽  
...  
Keyword(s):  
Heart Failure ◽  
Acute Heart Failure ◽  
Clinical Characteristics ◽  
De Novo ◽  
Stroke Patients ◽  
Lv Dysfunction ◽  
Co Morbidity ◽  
History Of ◽  
One Year ◽  
Ischemic Attack

Background: Chronic heart failure (CHF) is a known risk for stroke and morbidities and mortalities are known to be higher in CHF patients compared to stroke patients without CHF we here study the prevalence and the clinical significance in a group of patient with stroke or transient ischemic attack (TIA) who were admitted to hospital with acute heart failure (AHF) compared to those without stroke and are admitted with acute heart failure Methods: Data were derived from a prospective, multicenter, multinational study of 5005 patients hospitalized with AHF from February 2013 to November 2012. Data were analyzed according to the presence or absence of Stroke or bronchial TIA. Demographic, management, in-hospital and 1-year outcomes were compared Results: Stroke patients were likely to have a decompensation of chronic failure rather than De-Novo AHF when compared to those without Stroke/TIA (see table). Stroke patients were older; more likely to be female, have history of DM, HTN, dyslipidemia and CKD. Stroke patients were likely to have Atrial fibrillation, PVD, systolic LV dysfunction as well as CAD when compared to those without Stroke, they were also more likely receive NIV, IV inotropes and likely to have had cardiac PCI prior to this admission with AHF. Stroke patients had higher recurrence of stroke and one-year mortality rates. Conclusion: Patients who presented with AHF and history of stroke/TIA were having different clinical characteristics as well as comorbidities as compared to those without Stroke, with worse in-hospital and one-year outcome. The current study underlies the need to aggressively manage these high-risk patients.

Left retrosigmoid craniotomy for cavernous malformation of the middle cerebellar peduncle

2014 ◽  
Vol 36 (v1supplement) ◽  
pp. 1 ◽  
Author(s):  
Jonathan Russin ◽  
David J. Fusco ◽  
Robert F. Spetzler
Keyword(s):  
Cerebrospinal Fluid ◽  
Cavernous Malformation ◽  
Lateral Wall ◽  
Petrous Bone ◽  
Sigmoid Sinus ◽  
Middle Cerebellar Peduncle ◽  
Cavernous Malformations ◽  
Lateral Border ◽  
History Of ◽  
Cerebellar Peduncle

We present a 25-year-old female with a history of multiple intracranial cavernous malformations complaining of vertigo. Imaging is significant for increasing size of a lesion in her left cerebellar peduncle. Given the proximity to the lateral border of the cerebellar peduncle, a retrosigmoid approach was chosen. After performing a craniotomy that exposed the transverse-sigmoid sinus junction, the dura was open and reflected. The arachnoid was sharply opened and cerebrospinal fluid was aspirated to allow the cerebellum to fall away from the petrous bone. The cerebellopontine fissure was then opened to visualize the lateral wall of the cerebellar peduncle. The cavernous malformation was entered and resected.The video can be found here: http://youtu.be/P7mpVbaCiJE.

scholarly journals Postnatal delayed exacerbation of dural sinus malformation associated with brainstem cavernous malformations: A case report

2017 ◽  
Vol 23 (5) ◽  
pp. 510-515 ◽  
Author(s):  
Katsuhiro Mizutani ◽  
Tomoru Miwa ◽  
Takenori Akiyama ◽  
Tokunori Kanazawa ◽  
Hideaki Nagashima ◽  
...  
Keyword(s):  
Case Report ◽  
Vascular Malformation ◽  
De Novo ◽  
Clinical Course ◽  
Cavernous Malformation ◽  
Venous Hypertension ◽  
Dural Sinus ◽  
Cavernous Malformations ◽  
Dural Sinus Malformation ◽  
Brainstem Cavernous Malformation

Dural sinus malformation (DSM) is a rare paediatric vascular malformation characterised by abnormal dilation of the posterior dural sinus. Owing to its rarity, the pathophysiology of DSM has not been fully elucidated. We report a case of prenatally diagnosed DSM with an unusual clinical course. We detected DSM in a male foetus in the 26th week of gestation by using foetal ultrasonography. Although the DSM regressed during the foetal stage and the arteriovenous shunt was insignificant in the neonate, the shunt rapidly developed four months after birth. The neonate also had postnatal de novo brainstem cavernous malformation (CM), which also developed rapidly, supposedly due to the aggravated venous hypertension resulting from the DSM. We successfully treated the aggravated shunts by endovascular transarterial and transvenous embolisation six times over two years and, subsequently, the clinical condition and the size of the brainstem CM became stable. The DSM and CM seemed to have a metameric origin. Such aberrant cases could help to further the understanding of DSM.

scholarly journals Case Report: Identification of a de novo Microdeletion 1q44 in a Patient With Seizures and Developmental Delay

2021 ◽  
Vol 12 ◽  
Author(s):  
Yiehen Tung ◽  
Haiying Lu ◽  
Wenxin Lin ◽  
Tingting Huang ◽  
Samuel Kim ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
De Novo ◽  
Clinical Symptoms ◽  
Karyotype Analysis ◽  
Microdeletion Syndrome ◽  
Phenotypic Spectrum ◽  
Whole Exome ◽  
Number Variation ◽  
History Of

Objective: 1q44 microdeletion syndrome is difficult to diagnose due to the wide phenotypic spectrum and strong genetic heterogeneity. We explore the correlation between the chromosome microdeletions and phenotype in a child with 1q44 microdeletion syndrome, we collected the clinical features of the patient and combined them with adjacent copy number variation (CNV) regions previously reported.Methods: We collected the full medical history of the patient and summarized her clinical symptoms. Whole-exome sequencing (WES) and CapCNV analysis were performed with DNA extracted from both the patient's and her parents' peripheral blood samples. Fluorescent quantitative PCR (q-PCR) was performed for the use of verification to the CNV regions.Results: A 28.7 KB microdeletion was detected in the 1q44 region by whole-exome sequencing and low-depth whole-genome sequencing. The deleted region included the genes COX20 and HNRNPU. As verification, karyotype analysis showed no abnormality, and the results of qPCR were consistent with that of whole-exome sequencing and CapCNV analysis.Conclusion: The patient was diagnosed with 1q44 microdeletion syndrome with clinical and genetic analysis. Analyzing both whole-exome sequencing and CapCNV analysis can not only improve the diagnostic rate of clinically suspected syndromes that present with intellectual disability (ID) and multiple malformations but also support further study of the correlation between CNVs and clinical phenotypes. This study lays the foundation for the further study of the pathogenesis of complex diseases.

scholarly journals Influence of Pregnancy on Hemorrhage Risk in Women With Cerebral and Spinal Cavernous Malformations

Stroke ◽  
2021 ◽  
Vol 52 (2) ◽  
pp. 434-441
Author(s):  
Nycole K. Joseph ◽  
Shivram Kumar ◽  
Robert D. Brown ◽  
Giuseppe Lanzino ◽  
Kelly D. Flemming
Keyword(s):  
Spinal Cord ◽  
Neurological Complications ◽  
Reproductive Age ◽  
Childbearing Age ◽  
Cavernous Malformations ◽  
Familial Form ◽  
Hemorrhage Risk ◽  
Risk Of Hemorrhage ◽  
Record Review

Background and Purpose: Pregnancy as a hemorrhage risk factor in women with cavernous malformations (CMs) is controversial. We describe prospective hemorrhage risk in women who become pregnant after an established CM diagnosis. Methods: Beginning in 2015, we recruited consecutive patients with radiologically confirmed CM of the brain or spinal cord to participate in a prospective registry. Participants underwent a baseline and annual medical record review, imaging review, and annual surveys to ascertain pregnancies, deliveries, and neurological complications. We collected prospective hemorrhage data on reproductive age women. We calculated prospective hemorrhage rates on childbearing age patients based on the number of hemorrhages occurring post-CM diagnosis during pregnancy and nonpregnancy, divided by the years of follow-up and censored at last follow-up, age 46, or surgery in sporadic-form CM. The hemorrhage rates were compared and the 95% CI presented with a P value of <0.05. Results: Of 160 women, 90 presented with CM under the age of 46 (average age 31.6 years; 25.6% familial form; 46.7% with hemorrhage; 24.4% brain stem location). These 90 patients had 136 pregnancies before CM diagnosis; 36 pregnancies occurred at or after the diagnosis of CM. Four patients had a hemorrhage while pregnant or postpartum leading to the first CM diagnosis. During 402.6 years of follow-up while not pregnant, 42 hemorrhages occurred prospectively yielding a 10.4% per year (95% CI, 7.5–14.0) risk of hemorrhage while not pregnant. No hemorrhages occurred during 32 prospective pregnancies (26 live births including 1 twinset and 7 nonviable fetuses) after CM diagnosis during 26.9 years of pregnancy time yielding a rate of 0% per year (95% CI, 0–13.6). We found no statistical difference in the rates of hemorrhage during pregnant and nonpregnant time ( P =0.09). No hemorrhage occurred during delivery. Conclusions: Our prospective data suggest that pregnancy does not increase the risk of hemorrhage in women with a known brain or spinal cord CM and that vaginal delivery is safe in appropriate candidates.

scholarly journals Global Epidemiology and Evolutionary History of Staphylococcus aureus ST45

2020 ◽  
Vol 59 (1) ◽  
pp. e02198-20
Author(s):  
N. Effelsberg ◽  
M. Stegger ◽  
L. Peitzmann ◽  
O. Altinok ◽  
G. W. Coombs ◽  
...  
Keyword(s):  
Staphylococcus Aureus ◽  
Evolutionary History ◽  
De Novo ◽  
Clinical Symptoms ◽  
Phylogenetic Analyses ◽  
Invasive Disease ◽  
Phylogenetic Groups ◽  
Content Type ◽  
Global Epidemiology ◽  
History Of

ABSTRACTStaphylococcus aureus ST45 is a major global MRSA lineage with huge strain diversity and a high clinical impact. It is one of the most prevalent carrier lineages but also frequently causes severe invasive disease, such as bacteremia. Little is known about its evolutionary history. In this study, we used whole-genome sequencing to analyze a large collection of 451 diverse ST45 isolates from 6 continents and 26 countries. De novo-assembled genomes were used to understand genomic plasticity and to perform coalescent analyses. The ST45 population contained two distinct sublineages, which correlated with the isolates’ geographical origins. One sublineage primarily consisted of European/North American isolates, while the second sublineage primarily consisted of African and Australian isolates. Bayesian analysis predicted ST45 originated in northwestern Europe about 500 years ago. Isolation time, host, and clinical symptoms did not correlate with phylogenetic groups. Our phylogenetic analyses suggest multiple acquisitions of the SCCmec element and key virulence factors throughout the evolution of the ST45 lineage.

scholarly journals Large cavernous malformations in infant

2021 ◽  
Vol 32 (2) ◽  
pp. 149-155
Author(s):  
João Pedro Einsfeld Britz ◽  
Ildo Sonda ◽  
Renato Luis Calloni ◽  
Yan Bicca ◽  
Arthur Aguzzoli
Keyword(s):  
Cavernous Malformation ◽  
Vascular Malformations ◽  
Pediatric Population ◽  
Previous History ◽  
Resonance Imaging ◽  
Cavernous Malformations ◽  
History Of ◽  
The Central Nervous System ◽  
Radiological Aspect ◽  
Clonic Seizures

Cavernous malformations are rare vascular malformations in the central nervous system. We present the case of a 2-month-old female patient who presented tonic-clonic seizures, with no previous history of seizures. Magnetic resonance imaging showed a 5.6 cm tumor in the left parieto-occipital region. The radiological aspect of the tumor initially suggested an anaplastic meningioma. After surgical treatment and anatomopathological analysis, it was found to be a cavernous malformation. Cavernous malformations, or cavernomas, are rare lesions and even more rare is the occurrence of large cavernomas. In the pediatric population, although still quite rare, they usually are presented as larger cavernomas. Surgical resection is considered the most effective treatment.

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