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Cerebrofacial venous metameric syndrome (CVMS) type I: constellation of imaging and clinical findings
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  1. Gaurav Chauhan1,2,
  2. Amrin Israrahmed2,
  3. Rohit Agarwal3 and
  4. Amitesh Pandey4,4
  1. 1Radiology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India
  2. 2Intervention Radiology, Medanta The Medicity, Gurgaon, India
  3. 3Radiodiagnosis, Medanta The Medicity, Gurgaon, India
  4. 4Neuroanesthesia, Medanta The Medicity, Gurgaon, India
  1. Correspondence to Dr Rohit Agarwal; rohitkgmu{at}gmail.com

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Description

A woman in her early 30s presented with swelling over the right supraorbital region and forehead that she had since birth (figure 1A). On examination, the swelling was soft, non-tender and increased in size on bending forwards. Doppler ultrasound scan revealed a few prominent venous vascular channels. Contrast-enhanced MRI showed a large deep venous anomaly (DVA) in the right frontal lobe. The DVA was seen draining into an ectatic venous pouch in the right basifrontal region. It further showed transosseous drainage into a venous sac in the subcutaneous plane (right supraorbital region) (figure 1B).

Figure 1

(A) Clinical image showing swelling in right supraorbital region and along forehead; (B) MRI venography maximum intensity projection image shows large DVA (yellow arrow) in right frontal region, draining into a large ectatic venous pouch in the right basifrontal region (blue notched arrow), which further shows transosseous venous drainage (red arrow) into subcutaneous venous sacs (yellow arrowhead) present in the right supraorbital region. DVA, deep venous anomaly.

The patient underwent diagnostic cranial digital subtraction angiography (DSA) in order to plan endovascular management. DSA confirmed MRI findings and also showed non-opacification of the inferior sagittal sinus and anterior portion of the superior sagittal sinus (figure 2). In addition, drainage of the DVA (ie, the dominant drainage of frontal lobes) via transosseous channels into the venous sac and further into the facial vein was seen (figure 2). The constellation of imaging findings on MRI and DSA, along with the clinical history, helped in arriving at a diagnosis of type I cerebrofacial venous metameric syndrome (CVMS).

Figure 2

DSA image in venous phase (angiogram taken from right internal carotid artery) shows a large DVA (yellow arrow) in the right frontal region, draining into a large ectatic venous pouch in the right basifrontal region (blue notched arrow), which further shows transosseous venous drainage (red arrow) into subcutaneous venous sacs (yellow arrowhead) present in the right supraorbital region. There is also evidence of non-opacification of the inferior sagittal sinus and anterior portion of the superior sagittal sinus (white arrow). DVA, deep venous anomaly; DSA, digital subtraction angiography.

Ethanol/setrol sclerotherapy and/or surgery are the usual treatment options for these malformations. However, in our case, the vascular channels along the forehead and supraorbital region were the sole drainage pathway for the anterior cranial fossa structures, hence they were not embolised and the patient was kept on conservative management.

CVMS is a complex craniofacial vascular malformation in which the patient presents with a myriad of venous vascular malformations, which may affect bone, the dura, soft tissues and neural structures including the ocular globe and brain.1 CVMS can present with a constellation of imaging findings including metameric distribution of slow-flow vascular malformations along craniofacial planes, DVA, cavernomas, dural sinus aberrations and cavernous haemangiomas.2

The abnormality is thought to be caused by somatic mutations occurring prior to the migration of neural crest cells, which can lead to various venous abnormalities along the facial, osseous and cerebral planes which follow a segmental or ‘metameric’ distribution.3

CVMS is classified into three groups: medial prosencephalic (olfactory) which involve the forehead, nose, corpus callosum, hypothalamus and hypophysis (CVMS 1); lateral prosencephalic (optic) which involve the temporo-parietal-occipital lobes, retina, optic nerve, eye, thalamus, maxilla and cheek (CVMS 2) and rhombencephalic/mesencephalon (otic) which affect the cerebellum, brainstem, lower face, mandible, petrous bone, and maxilla (CVMS 3).4

Patient’s perspective

I was suffering from a swelling in the forehead since childhood. The persistent swelling led to loss of self-esteem and lack of confidence. My family consulted many doctors in the last 15-20 years, but we failed to arrive at any conclusive diagnosis. This led to a lot of apprehension as to whether this condition was life threatening or only a cosmetic problem. I started to feel depressed which affected my academic, social, personal and professional life. Doctors here conducted a few tests and enlightened me about my condition. They explained and reassured me that this is not a life hindering situation and that I should not let this affect my dayto-day activities. It feels much better to finally know what the diagnosis is and it gives me closure about the nature of my condition.

Learning points

  • Cerebrofacial venous metameric syndrome is a clinicoradiological diagnosis.

  • Anatomical delineation of the venous drainage pathway is important in deciding treatment approach, that is, conservative versus endovascular/surgical intervention for these patients.

  • If the normal drainage pathway of brain parenchyma is absent, then endovascular/surgical closure of the abnormal venous channels can lead to venous hypertension and intracranial venous bleeds. Therefore, conservative management and regular follow-up is recommended in these cases.

Ethics statements

Patient consent for publication

Acknowledgments

The department of intervention radiology at Medanta has been extremely supportive in coordinating the scans for this patient.

References

Footnotes

  • Contributors RA, GC, AI and AP were involved in formulating the diagnosis of the patient. AI drafted the manuscript and AP compiled the figures. GC drafted the figure legends. RA has added valuable inputs to the final version of the manuscript and has approved it for submission.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.