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CASE REPORT
Year : 2012  |  Volume : 39  |  Issue : 1  |  Page : 37-39

Multiple intracranial cavernous angiomas: A rare case series


Department of Radiodiagnosis, J. N Medical College, Belgaum, Karnataka, India

Date of Web Publication21-May-2012

Correspondence Address:
Vinaykumar C Udasi
Department of Radiodiagnosis, J. N Medical College, Belgaum - 590 010, Karnataka
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0974-5009.96473

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  Abstract 

Cavernous angiomas are cerebral cavernous malformations and they are relatively rare lesions. Two forms of cavernous angiomas have been described: a sporadic form, in which patients usually have a single lesion, and a familial form, the hallmarks of which are multiple lesions and autosomal dominant transmission. The familial form appears to be very uncommon and has mainly been described in the Hispanic population. We report two cases of multiple intracranial cavernous angiomas which is an autosomal dominant pattern of inheritance. It is very rare to find this in non Hispanic population.

Keywords: Autosomal dominant disorder, multiple intracranial cavernous angiomas, non-hispanic population


How to cite this article:
Patil PH, Shetti A C, Patil AS, Udasi VC, Desai KS, Gosalia TB. Multiple intracranial cavernous angiomas: A rare case series. J Sci Soc 2012;39:37-9

How to cite this URL:
Patil PH, Shetti A C, Patil AS, Udasi VC, Desai KS, Gosalia TB. Multiple intracranial cavernous angiomas: A rare case series. J Sci Soc [serial online] 2012 [cited 2021 Apr 20];39:37-9. Available from: https://www.jscisociety.com/text.asp?2012/39/1/37/96473


  Introduction Top


Cavernous angiomas are blood vessel hamartomas that affect the central nervous system . Two forms of cavernous angiomas have been described: a sporadic form, in which patients usually have a single lesion, and a familial form, the hallmarks of which are multiple lesions and autosomal dominant transmission. [1] The familial form appears to be very uncommon [2] and has mainly been described in the Hispanic American population. [1],[3] The clinical presentation of these lesions is highly variable, ranging from incidental finding on neuroimaging to discovery in an autopsy after a fatal hemorrhage, [4] The most common symptoms of cavernous angiomas are seizures followed by focal neurological deficits, acute hemorrhage, and headache. [5] The prevalence of these is very low, and has been estimated on the basis of autopsy or magnetic resonance imaging (MRI) to be 0.5 - 0.7%. [6],[7] Here we present two such rare cases.


  Case Reports Top


Case 1

A 47-year-old male came with history of dull aching headache for the past two months and one episode of generalized seizure. A past history of tuberculosis was negative and he was not hypertensive. None of the other siblings in the family or family members had a seizure disorder. A general physical examination and systemic examination of the central nervous system, cardiovascular system, per abdomen, and respiratory system were not contributory. The patient was referred to the Department of Radiodiagnosis for MRI evaluation of the brain.

The MRI of the brain showed T2 mixed intense lesions with a peripheral hypointense rim in the left parietal region [Figure 1]a. On a gradient recall echo (GRE), a sequence of multiple oval lesions, with blooming [Figure 1]b, was noted in the bilateral frontal, parietal, and temporal regions and in the left cerebellar lobe.
Figure 1: (a and b): Axial GRE images, multiple lesions which show blooming

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Case 2

A 14-year-old boy presented with a history of two episodes of seizures in a period of one month. A past history of tuberculosis was negative and personal history revealed that he was a vegetarian. None of the other siblings in the family had a history of seizures. A general physical examination and systemic examination of the central nervous system, cardiovascular system, per abdomen, and respiratory system, revealed no abnormalities. The boy was referred to the Department of Radiodiagnosis for MRI evaluation of the brain.

The MRI of the brain revealed multiple T2 mixed intense lesions of varying sizes with a peripheral hypointense rim (hemosiderin deposition) scattered over the frontal, parietal, and occipital regions, thalami and cerebellar lobes on both sides, splenium of corpus callosum, and brain stem. Similar lesions were noted in the lateral ventricle. Few of the lesions showed fluid-fluid levels [Figure 2]a. All the lesions showed blooming on GRE images, as shown in [Figure 2]b.
Figure 2: (a) Axial T2 WI image shows multiple mixed intense lesions and one lesion shows fluid-fluid levels in the right frontal region lesion; (b) Axial GRE images show multiple lesions which show blooming. Few of the lesions are located within the lateral ventricle

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  Discussion Top


Cavernous angiomas belong to a group of intracranial vascular malformations that are developmental malformations of the vascular bed. They are typically discrete multilobulated lesions that contain hemorrhage in various stages of evolution. As they are lobulated and dark red to blue in color, the lesions grossly resemble small mulberries. They are vascular hamartomas made up of endothelium lined sinusoids, not separated by the neural tissue. Cavernous angiomas may occur anywhere in the central nervous system, but the most common site is the supratentorial neuroparenchyma (about 80%).

Two forms of cavernous angiomas have been described: a sporadic form, in which patients usually have a single lesion, and a familial form, the hallmarks of which are multiple lesions and autosomal dominant transmission. The familial form appears to be very uncommon and has mainly been described in the Hispanic American population. It is very rare to find this in the non-Hispanic population. Both the cases reported here are from the non-Hispanic population.

Patients may be asymptomatic, although they often present with headaches, seizures or neurological deficits, due to intraparenchymal hemorrhage. An MRI is the imaging technique of choice, as of today. Both spin echo (SE) and gradient recall echo (GRE) sequences are useful in demonstrating cavernous angiomas. However, GRE images have proven to be better than spin echo images. [8] MRI findings of cavernous angiomas are quite typical. [9],[10],[11]

On MRI images they appear as popcorn-like, smoothly circumscribed, well-delineated, complex lesions. The core is formed by multiple foci of mixed signal intensities, which represents hemorrhage in various stages of evolution. [12] A low signal intensity hemosiderin ring that completely surrounds the lesion is a common finding.

The genetic basis for cavernous angiomas has been established. Familial forms of cavernous angiomas are associated with a set of genes called the CCM genes (cerebral cavernous angiomas). The three genes associated with familial CCM are CCM1 (KRIT1) and CCM2, both of which are located on chromosome 7q, and CCM3 (PDCD10) which is located on chromosome 3. [13],[14] Familial CCM is inherited in an autosomal dominant manner. The occurrence of asymptomatic vascular lesions may prevent recognition of an autosomal dominant pattern of inheritance in a family.

The management strategies are based on a combination of factors, including, the natural history, age of the patient, location of the lesion, and risk of operative removal. Conservative treatment is recommended if the patient has an asymptomatic lesion; the malformation is associated with a medically controlled seizure disorder; or the malformation is located in a critical brain region, but the patient has only minimal symptoms and no history of symptomatic bleeding. The main indications for surgery are based on reductions or control of seizures, reversal of symptoms or deficits related to mass effect, and prevention of hemorrhage or recurrent hemorrhage. Generally, the surgical results are very good.


  Conclusion Top


When multiple cavernous malformations are identified in a patient, the family members must be advised to undergo MRI of the brain, as genetic testing is not possible due to the high prohibitive cost. It is important to counsel the family members who are found to have these angiomas regarding the risk of hemorrhage and advice changes in their lifestyle. MRI is a better and cheaper method for detecting cavernous angiomas in non-symptomatic family members.

 
  References Top

1.Rigamonti D, Hadley MN, Drayer BP, Johnson PC, Hoenig-Rigamonti K, Knight JT, et al. Cerebral cavernous malformations: Incidence and familial occurrence. N Engl J Med 1988;319:343-7.  Back to cited text no. 1
[PUBMED]  [FULLTEXT]  
2.Russel DS, Rubinstein LJ. Pathology of tumors of the nervous system. 5 th ed. Baltimore, MD: Williams & Wilkins; 1989. p. 730-6.  Back to cited text no. 2
    
3.Kattapong VJ, Hart BL, Davis LE. Familial cerebral cavernous angiomas: Clinical and radiologic studies. Neurology 1995;45:492-7.  Back to cited text no. 3
    
4.Maraire JN, Awad IA. Intracranial cavernous malformations: Lesion behavior and management strategies. Neurosurgery 1995;37:591-605.  Back to cited text no. 4
    
5.Del Curling O Jr, Kelly DL Jr, Elster AD, Craven TE. Ananalysis of the natural history of cavernous angiomas. J Neurosurg 1991;75:702-8.  Back to cited text no. 5
    
6.Giombini S, Morello G. Cavernous angiomas of the brain: Account of fourteen personal cases and review of the literature. Acta Neurochir (Wien) 1978;40:61-82.  Back to cited text no. 6
    
7.Otten P, Pizzolato GP, Rilliet B, Berney J. Apropos ell' 131 cas d'angiomes cavcrncux (cavernomes) du SNC, reperes par l'analyse retrospective de 24535 autopsies. Neurochirurgie 1989;35:82-3, 128-31.  Back to cited text no. 7
    
8.Brunereau L, Labauge P, Tournier-Lasserve E, Laberge S, Levy C, Houtteville JP. Familial form of intracranial cavernous angioma: MR imaging findings in 51 families. Radiology 2000;214:209-16.  Back to cited text no. 8
    
9.Hallam DK, Russell EJ. Imaging of angiographically occult cerebral vascular malformations. Neuroimaging Clin N Am 1998;8:323-47.  Back to cited text no. 9
    
10.Hauck EF, Barnett SL, White JA, Samson D. Symptomatic brainstem cavernomas. Neurosurgery 2009;64:61-70; discussion 70-1.  Back to cited text no. 10
    
11.Ide C, De Coene B, Baudrez V. MR features of cavernous angiomas. JBR-BTR 2000;83:320.  Back to cited text no. 11
    
12.Novak V, Chowdhary A, Abduljalil A, Novak P, Chakeres D. Venous cavernoma at 8 Tesla MRI. Magn Reson Imaging 2003;21:1087-9.  Back to cited text no. 12
    
13.Liquori CL, Berg MJ, Siegel AM, Huang E, Zawistowski JS, Stoffer T, et al. Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations. Am J Hum Genet 2003;73:1459-64.  Back to cited text no. 13
    
14.Craig HD, Günel M, Cepeda O, Johnson EW, Ptacek L, Steinberg GK, et al. Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27. Hum Mol Genet 1998;7:1851-8.  Back to cited text no. 14
    


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