Literature DB >> 28318403

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

Corinne D Strickland1, Steven C Eberhardt1, Mary R Bartlett1, Jeffrey Nelson1, Helen Kim1, Leslie A Morrison1, Blaine L Hart1.   

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.

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Year:  2017        PMID: 28318403      PMCID: PMC5519414          DOI: 10.1148/radiol.2017161127

Source DB:  PubMed          Journal:  Radiology        ISSN: 0033-8419            Impact factor:   11.105


  35 in total

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Journal:  Radiology       Date:  2000-01       Impact factor: 11.105

2.  Visceral and nodal calcification in patients with AIDS-related Pneumocystis carinii infection.

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Journal:  Hum Mol Genet       Date:  1999-11       Impact factor: 6.150

4.  Prospective follow-up of 33 asymptomatic patients with familial cerebral cavernous malformations.

Authors:  P Labauge; L Brunereau; S Laberge; J P Houtteville
Journal:  Neurology       Date:  2001-11-27       Impact factor: 9.910

5.  Frequency of retinal cavernomas in 60 patients with familial cerebral cavernomas: a clinical and genetic study.

Authors:  Pierre Labauge; Valerie Krivosic; Christian Denier; Elisabeth Tournier-Lasserve; Alain Gaudric
Journal:  Arch Ophthalmol       Date:  2006-06

6.  An association between autosomal dominant cerebral cavernomas and a distinctive hyperkeratotic cutaneous vascular malformation in 4 families.

Authors:  P Labauge; O Enjolras; J J Bonerandi; S Laberge; M Dandurand; J M Joujoux; E Tournier-Lasserve
Journal:  Ann Neurol       Date:  1999-02       Impact factor: 10.422

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Journal:  Epilepsy Res       Date:  1995-05       Impact factor: 3.045

8.  Familial cerebral, hepatic, and retinal cavernous angiomas: a new syndrome.

Authors:  P Drigo; I Mammi; P A Battistella; G Ricchieri; C Carollo
Journal:  Childs Nerv Syst       Date:  1994-05       Impact factor: 1.475

9.  Multiple familial cavernous malformations evaluated over three generations with MR.

Authors:  M Horowitz; D Kondziolka
Journal:  AJNR Am J Neuroradiol       Date:  1995 Jun-Jul       Impact factor: 3.825

10.  The natural history of familial cavernous malformations: results of an ongoing study.

Authors:  J M Zabramski; T M Wascher; R F Spetzler; B Johnson; J Golfinos; B P Drayer; B Brown; D Rigamonti; G Brown
Journal:  J Neurosurg       Date:  1994-03       Impact factor: 5.115

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  5 in total

1.  Cutaneous findings of familial cerebral cavernous malformation syndrome due to the common Hispanic mutation.

Authors:  Athanasios K Manole; Vernon J Forrester; Barrett J Zlotoff; Blaine L Hart; Leslie A Morrison
Journal:  Am J Med Genet A       Date:  2020-02-26       Impact factor: 2.802

Review 2.  Familial Cerebral Cavernous Malformations.

Authors:  Atif Zafar; Syed A Quadri; Mudassir Farooqui; Asad Ikram; Myranda Robinson; Blaine L Hart; Marc C Mabray; Catherine Vigil; Alan T Tang; Mark L Kahn; Howard Yonas; Michael T Lawton; Helen Kim; Leslie Morrison
Journal:  Stroke       Date:  2019-05       Impact factor: 7.914

3.  Vertebral Intraosseous Vascular Malformations in a Familial Cerebral Cavernous Malformation Population: Prevalence, Histologic Features, and Associations With CNS Disease.

Authors:  Steven R Tandberg; Thèrése Bocklage; Mary R Bartlett; Leslie A Morrison; Jeffrey Nelson; Blaine L Hart
Journal:  AJR Am J Roentgenol       Date:  2019-12-11       Impact factor: 3.959

Review 4.  Systemic and CNS manifestations of inherited cerebrovascular malformations.

Authors:  Blaine L Hart; Marc C Mabray; Leslie Morrison; Kevin J Whitehead; Helen Kim
Journal:  Clin Imaging       Date:  2021-01-20       Impact factor: 2.420

5.  Assessing the association of common genetic variants in EPHB4 and RASA1 with phenotype severity in familial cerebral cavernous malformation.

Authors:  Foram Choksi; Shantel Weinsheimer; Jeffrey Nelson; Ludmila Pawlikowska; Christine K Fox; Atif Zafar; Marc C Mabray; Joseph Zabramski; Amy Akers; Blaine L Hart; Leslie Morrison; Charles E McCulloch; Helen Kim
Journal:  Mol Genet Genomic Med       Date:  2021-09-07       Impact factor: 2.183

  5 in total

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