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Cerebral cavernous malformations: radiological findings and implications for genetic testing
  1. Dana Niry1,
  2. Salita Angkurawaranon2,
  3. Kshitji Mankad1
  1. 1Neuroradiology Department, Great Ormond Street Hospital, London, UK
  2. 2Department of Radiology, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand
  1. Correspondence to Dr Salita Angkurawaranon, Department of Radiology, Faculty of Medicine, Chiang Mai University, 110 Intawararos Road, Sriphum, Chiang Mai 50200, Thailand; salita.ang{at}cmu.ac.th

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Introduction

Cerebral cavernous malformations (CCMs) are benign, well-circumscribed, lobulated vascular hamartomas, which are found in 0.3–0.6% of the population.1 Patients with cavernous malformations may be asymptomatic, but often present with seizures, haemorrhage, neurological deficits and/or headaches.2 Although the imaging appearance of CCMs may vary, MRI, specifically using haem-sensitive sequences using gradient echo (GRE) or susceptibility-weighted imaging, has been proven to be both a highly specific and sensitive tool in the diagnosis of CCMs.1

Two common forms of CCMs are familial autosomal-dominant inherited form and sporadic form. Familial CCMs are usually present as multiple lesions while sporadic CCMs are often solitary.3 However, a large number of cases assumed to be isolated cases are actually undetected familial forms.4 The case below …

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