scholarly journals NIMG-10. EARLY PRESENTATION OF FAMILIAL CEREBRAL CAVERNOUS MALFORMATION (FCCM) IN AN INFANT - A CASE REPORT

2016 ◽  
Vol 18 (suppl_6) ◽  
pp. vi125-vi125 ◽  
Author(s):  
Gurcharanjeet Kaur ◽  
Louis Manganas
Keyword(s):  
Case Report ◽  
Cavernous Malformation ◽  
Cerebral Cavernous Malformation ◽  
Early Presentation ◽  
Familial Cerebral Cavernous Malformation

Familial Cerebral Cavernous Malformation Mimicking Cerebral Amyloid Angiopathy

2021 ◽  
pp. 10.1212/CPJ.0000000000001055
Author(s):  
Mohamed Ridha ◽  
Yasmin Aziz ◽  
Joseph Broderick
Keyword(s):  
Cerebral Amyloid Angiopathy ◽  
Cavernous Malformation ◽  
Pathogenic Mutation ◽  
Cerebral Cavernous Malformation ◽  
Amyloid Angiopathy ◽  
History Of ◽  
Cerebral Amyloid ◽  
Cerebral Microhemorrhages ◽  
Familial Cerebral Cavernous Malformation ◽  
Work Up

A 67-year-old man was referred from ophthalmology for possible cerebral amyloid angiopathy (CAA) discovered during work-up of possible optic neuropathy. MRI (figure 1) demonstrated innumerable periventricular, brainstem, and cortical cerebral microhemorrhages (CMH). Scattered, non-specific white matter hyperintensities was seen on T2-weighted imaging without surrounding hypointense rim. He had no hypertension, and the distribution was uncharacteristic for CAA. Despite absent family history of stroke or seizure, testing for familial cerebral cavernous malformation (FCCM) identified a pathogenic mutation of KRIT1 (c.382G>T).

scholarly journals Cutaneous findings of familial cerebral cavernous malformation syndrome due to the common Hispanic mutation

2020 ◽  
Vol 182 (5) ◽  
pp. 1066-1072
Author(s):  
Athanasios K. Manole ◽  
Vernon J. Forrester ◽  
Barrett J. Zlotoff ◽  
Blaine L. Hart ◽  
Leslie A. Morrison
Keyword(s):  
Cavernous Malformation ◽  
Cerebral Cavernous Malformation ◽  
Malformation Syndrome ◽  
The Common ◽  
Familial Cerebral Cavernous Malformation

A British family with familial cerebral cavernous malformation due to a rare mutation of the CCM2 gene

2020 ◽  
Vol 120 (5) ◽  
pp. 1227-1229 ◽  
Author(s):  
Muhammed Noushad ◽  
Shakya Bhattacharjee ◽  
Stuart J. Weatherby ◽  
Peter Whitefield
Keyword(s):  
Cavernous Malformation ◽  
Cerebral Cavernous Malformation ◽  
Rare Mutation ◽  
Familial Cerebral Cavernous Malformation

scholarly journals Familial cerebral cavernous malformation: Report of a novel KRIT1 mutation in a Portuguese family

Seizure ◽  
2017 ◽  
Vol 53 ◽  
pp. 72-74
Author(s):  
Inês Rosário Marques ◽  
Francisco Antunes ◽  
Nadine Ferreira ◽  
Miguel Grunho
Keyword(s):  
Cavernous Malformation ◽  
Cerebral Cavernous Malformation ◽  
Familial Cerebral Cavernous Malformation

scholarly journals Familial cerebral cavernous malformation: clinical case

2020 ◽  
Vol 21 (3) ◽  
pp. 230-234
Author(s):  
Júlia Travkina ◽  
Eva Gödöllová ◽  
Oto Petrík
Keyword(s):  
Clinical Case ◽  
Cavernous Malformation ◽  
Cerebral Cavernous Malformation ◽  
Familial Cerebral Cavernous Malformation

Familial Cerebral Cavernous Malformation Syndrome with Concomitant Fourth Ventricular Ependymoma: True Association or Mere Coincidence?

2020 ◽  
Vol 244 ◽  
pp. 36-39
Author(s):  
Hanna Algattas ◽  
Hussam Abou-Al-Shaar ◽  
Michael Mendelson ◽  
Georgianne L. Arnold ◽  
James Felker ◽  
...  
Keyword(s):  
Cavernous Malformation ◽  
Cerebral Cavernous Malformation ◽  
Malformation Syndrome ◽  
Familial Cerebral Cavernous Malformation ◽  
True Association
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