CASE 17499 Published on 28.10.2021

A rare, unusual presentation of multiple cavernoma syndrome

Section

Neuroradiology

Case Type

Clinical Cases

Authors

S. Babu Peter, N. Ram Kumar

Barnard Institute of Radiology, Madras Medical College, Chennai-01, India

Patient

42 years, female

Categories
Area of Interest CNS, Neuroradiology brain ; Imaging Technique MR, MR-Angiography
Clinical History

A 42-years-old female presented with complaints of diplopia for near vision for the past 3 months, no h/o headache, vomiting, seizures, and blurred vision. No history of comorbidities and no family history of a similar complaint.

Imaging Findings

Multiple discrete foci of blooming where noted in bilateral cerebral hemispheres predominantly bilateral parieto occipital region, bilateral thalamus, bilateral centrum semiovale(Figure 2a, 2b). Focal large popcorn-like appearance lesion which blooms on susceptibility-weighted images noted in the right anterior aspect of the pons, measuring 1.8 cm(anteroposterior) x 1.5 cm(transverse). The lesions show no diffusion restriction(Figure 2a, 2b).On contrast administration lesion shows no enhancement in T1 contrast and subtracted images( Figure 4a-4c), screening was advised to family members, the patient mother who underwent screening was found to the similar lesion but asymptomatic.

Discussion

Background

"Cerebral cavernous venous malformations" (ISSVA classification of vascular anomalies) are low-flow vascular malformations in the brain and spinal cord. They represent 5-13 % of central nervous system vascular malformations [1]. These are usually single and asymptomatic, however, multiple Cerebral cavernous venous malformations may occur in the familial form associated with CCM genes. These Cerebral cavernous venous malformations may be asymptomatic or may cause headache, epilepsy, intracerebral haemorrhage, and/or focal neurologic deficits [2].

If symptomatic mostly the patient presents with seizure or headache but in our case patient presented with diplopia an unusual presentation.

Repeated haemorrhages can occur which results in degeneration of neurons. Death may occur due to haemorrhage in lesions particularly brainstem lesions.

Cerebral cavernous venous malformations can occur anywhere in the brain and the spinal cord, the most common location being supratentorial brain parenchyma (75%).

The familial form is inherited in an autosomal dominant 

manner, associated with three genes CCM1(KRIT1), CCM2 both located on chromosome 7q and CCM3(PDCD 10)located on chromosome 3

The definition of familial multiple cavernous malformation syndrome is when there is one or more of the following [3]:

  • Multiple cerebral cavernous malformations
  • Five or more cavernomas, or
  • One cavernoma and at least one other family member with one or more cavernomas
  • Mutations in one of the three genes, KRIT1CCM2, or PDCD10, which are associated with this disease

Imaging

MRI is the imaging modality of choice for diagnosis as well as for monitoring the progression of lesions. Gradient echo sequences are important in diagnosing Cerebral cavernous venous malformations [4] which can pick up more lesions. On T2W sequences, Cerebral cavernous venous malformations appear as well-defined, popcorn-like lesions with mixed-signal intensity due to hemorrhage in various stages. A peripheral low signal intensity hemosiderin ring is seen on T2W sequences and gradient-echo images [5]. Contrast MRI is usually not required for the diagnosis of Cerebral cavernous venous malformations, however, it helps in finding out other associated vascular malformations like capillary telangiectasia, aneurysms, and arteriovenous malformations. The lesions demonstrating T1W/T2W hyperintense signal and/or perilesional edema are suggestive of a recent bleed. It is important to identify these lesions as they are associated with recurrent bleeding. Screening MRI for parents and siblings should be advised to find out the number, location, and size of lesions.

Differential Diagnosis List
Familial multiple cavernous malformation syndrome
Cerebral amyloid angiopathy
Chronic hypertensive encephalopathy
Diffuse axonal injury (DAI)
Cerebral vasculitis
Radiation-induced vasculopathy
Hemorrhagic metastases
Final Diagnosis
Familial multiple cavernous malformation syndrome
Case information
URL: https://www.eurorad.org/case/17499
DOI: 10.35100/eurorad/case.17499
ISSN: 1563-4086
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