Familial Cerebral Cavernous Malformations Are Associated with Adrenal Calcifications on CT Scans: An Imaging Biomarker for a Hereditary Cerebrovascular Condition

• Published in: Radiology Vol. 284; no. 2; pp. 443 - 450
• Main Authors: Strickland, Corinne D., Eberhardt, Steven C., Bartlett, Mary R., Nelson, Jeffrey, Kim, Helen, Morrison, Leslie A., Hart, Blaine L.
• Format: Journal Article
• Language: English
• Published: United States Radiological Society of North America 01.08.2017
• Subjects: Adolescent; Adrenal Gland Diseases - diagnostic imaging; Adrenal Gland Diseases - etiology; Adrenal Gland Diseases - genetics; Adult; Biomarkers - analysis; Calcinosis - diagnostic imaging; Calcinosis - etiology; Calcinosis - genetics; Case-Control Studies; Child; Contrast Media; Diagnosis, Differential; Female; Hemangioma, Cavernous, Central Nervous System - complications; Hemangioma, Cavernous, Central Nervous System - diagnostic imaging; Hemangioma, Cavernous, Central Nervous System - genetics; Humans; KRIT1 Protein; Magnetic Resonance Imaging; Male; Microtubule-Associated Proteins - genetics; Middle Aged; Original Research; Proto-Oncogene Proteins - genetics; Tomography, X-Ray Computed - methods
• ISSN: 0033-8419; 1527-1315; 1527-1315
• DOI: 10.1148/radiol.2017161127

Purpose To determine if adrenal calcifications seen at computed tomography (CT) are associated with familial cerebral cavernous malformations (fCCMs) in carriers of the CCM1 Common Hispanic Mutation. Materials and Methods This study was approved by the institutional review board. The authors retrospectively reviewed abdominal CT scans in 38 patients with fCCM, 38 unaffected age- and sex-matched control subjects, and 13 patients with sporadic, nonfamilial cerebral cavernous malformation (CCM). The size, number, and laterality of calcifications and the morphologic characteristics of the adrenal gland were recorded. Brain lesion count was recorded from brain magnetic resonance (MR) imaging in patients with fCCM. The prevalence of adrenal calcifications in patients with fCCM was compared with that in unaffected control subjects and those with sporadic CCM by using the Fisher exact test. Additional analyses were performed to determine whether age and brain lesion count were associated with adrenal findings in patients with fCCM. Results Small focal calcifications (SFCs) (≤5 mm) were seen in one or both adrenal glands in 19 of the 38 patients with fCCM (50%), compared with 0 of the 38 unaffected control subjects (P < .001) and 0 of the 13 subjects with sporadic CCM (P = .001). Adrenal calcifications in patients with fCCM were more frequently left sided, with 17 of 19 patients having more SFCs in the left adrenal gland than the right adrenal gland and 50 of the 61 observed SFCs (82%) found in the left adrenal gland. No subjects had SFCs on the right side only. In patients with fCCM, the presence of SFCs showed a positive correlation with age (P < .001) and number of brain lesions (P < .001). Conclusion Adrenal calcifications identified on CT scans are common in patients with fCCM and may be a clinically silent manifestation of disease. RSNA, 2017.