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

Corinne D Strickland, Steven C Eberhardt, Mary R Bartlett, Jeffrey Nelson, Helen Kim, Leslie A Morrison, Blaine L Hart, Corinne D Strickland, Steven C Eberhardt, Mary R Bartlett, Jeffrey Nelson, Helen Kim, Leslie A Morrison, Blaine L Hart

Abstract

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.

Figures

Figure 1a:
Figure 1a:
Images in 36-year-old woman with CCM1-CHM genotype who presented with symptomatic intracerebral hemorrhage. (a) Axial T2-weighted GRE MR image shows left frontal cavernous malformation. Patient had 10 additional brain lesions (not pictured). (b) Coronal reconstruction image from unenhanced abdominal CT performed for renal colic 3 years earlier reveals focal calcifications without associated mass in left adrenal gland.
Figure 1b:
Figure 1b:
Images in 36-year-old woman with CCM1-CHM genotype who presented with symptomatic intracerebral hemorrhage. (a) Axial T2-weighted GRE MR image shows left frontal cavernous malformation. Patient had 10 additional brain lesions (not pictured). (b) Coronal reconstruction image from unenhanced abdominal CT performed for renal colic 3 years earlier reveals focal calcifications without associated mass in left adrenal gland.
Figure 2:
Figure 2:
Unenhanced axial CT scan in 58-year-old asymptomatic man with CCM1-CHM genotype who underwent multiphase abdominal CT to characterize liver lesion. Image shows bilateral adrenal calcifications with left side predominance.
Figure 3:
Figure 3:
Unenhanced axial CT scan in 54-year-old woman with multiple cerebral cavernous malformations, genotype unknown. Patient underwent CT of abdomen for suspected urinary calculi. Image depicts bilateral adrenal calcifications.
Figure 4:
Figure 4:
Image in 56-year-old man with history of seizures and documented CCM1-CHM genotype. Delayed phase axial image from multiphase CT of abdomen performed because of hematuria shows focal calcifications in left adrenal gland. Right adrenal calcification was also present (not pictured).
Figure 5a:
Figure 5a:
Images in 55-year-old man without prior neurologic symptoms who underwent imaging after fall from a horse. (a) Unenhanced axial head CT scan shows high-attenuation focus in right frontal lobe (arrow), which was interpreted as acute hemorrhage versus pre-existing cavernous malformation. (b) Contrast-enhanced axial CT scan of abdomen shows bilateral adrenal calcifications, which increased suspicion for fCCM. (c) Axial T2-weighted GRE brain MR image obtained at 1-month follow-up reveals multiple cavernous malformations, which confirms diagnosis of fCCM.
Figure 5b:
Figure 5b:
Images in 55-year-old man without prior neurologic symptoms who underwent imaging after fall from a horse. (a) Unenhanced axial head CT scan shows high-attenuation focus in right frontal lobe (arrow), which was interpreted as acute hemorrhage versus pre-existing cavernous malformation. (b) Contrast-enhanced axial CT scan of abdomen shows bilateral adrenal calcifications, which increased suspicion for fCCM. (c) Axial T2-weighted GRE brain MR image obtained at 1-month follow-up reveals multiple cavernous malformations, which confirms diagnosis of fCCM.
Figure 5c:
Figure 5c:
Images in 55-year-old man without prior neurologic symptoms who underwent imaging after fall from a horse. (a) Unenhanced axial head CT scan shows high-attenuation focus in right frontal lobe (arrow), which was interpreted as acute hemorrhage versus pre-existing cavernous malformation. (b) Contrast-enhanced axial CT scan of abdomen shows bilateral adrenal calcifications, which increased suspicion for fCCM. (c) Axial T2-weighted GRE brain MR image obtained at 1-month follow-up reveals multiple cavernous malformations, which confirms diagnosis of fCCM.

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Source: PubMed

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