Related Experiment Video
Updated: Dec 17, 2025
05:12
Induction and Micro-CT Imaging of Cerebral Cavernous Malformations in Mouse Model
Published on: September 4, 2017
11.2K
Multiple cerebral cavernous malformations in association with a Dubowitz-like syndrome
Abteen Mostofi1, Nihal T Gurusinghe1
1Department of Neurosurgery, Royal Preston Hospital, Lancashire Teaching Hospitals NHS Trust, Preston, PR2 9HT, UK.
Journal of Cerebrovascular and Endovascular Neurosurgery
|June 30, 2020
Summary
This study reports the first association between cerebral cavernous malformations (CCMs) and Dubowitz syndrome. A patient with a Dubowitz-like condition had multiple CCMs, suggesting a potential shared genetic cause.
Area of Science:
- Neurology
- Genetics
- Vascular Biology
Background:
- Cerebral cavernous malformations (CCMs) are common brain vascular lesions, often genetic.
- Dubowitz syndrome is a rare genetic disorder with an unknown molecular basis.
Observation:
- A 30-year-old woman with a Dubowitz-like syndrome presented with neurological deficits.
- Imaging revealed multiple CCMs, including one with recent hemorrhage in the cerebellum.
- Recurrent hemorrhage occurred from the same lesion, necessitating surgical excision.
Findings:
- Genetic analysis identified an unbalanced chromosomal rearrangement with deletion at 7q21, the locus for CCM1/KRIT1.
- This is the first documented association between CCMs and the Dubowitz phenotype.
- The findings suggest a possible common genetic etiology for both conditions.
Implications:
- This association may aid in managing neurological presentations in Dubowitz-like syndromes.
- It highlights the genetic heterogeneity of Dubowitz syndrome.
- Further research into shared genetic pathways is warranted.
Related Concept Videos
01:21Aneurysm II: Clinical Manifestations and Diagnostic Studies
124
Thoracic, aortic arch and abdominal aneurysms are significant vascular conditions that can present with various clinical manifestations and lead to serious complications. Understanding these manifestations and the appropriate diagnostic studies is essential for effective management and treatment.Thoracic Aortic AneurysmsThoracic aortic aneurysms often remain asymptomatic until they reach a size that impinges on adjacent structures. They typically cause deep, diffuse chest pain that radiates to...
124
01:30Cardiomyopathy II: Dilated Cardiomyopathy
311
Dilated cardiomyopathy, or DCM, is a progressive myocardial disorder characterized by ventricular chamber dilation and contractile dysfunction.EtiologyVarious factors can cause DCM, including hypertension and heavy alcohol intake, which contribute to the weakening and enlargement of the heart muscle. Viral infections, such as Coxsackievirus B, adenoviruses, and influenza, can lead to DCM by causing inflammation and damage to heart tissue. Certain chemotherapeutic agents, including daunorubicin,...
311