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 Table of Contents  
CASE REPORT
Year : 2022  |  Volume : 10  |  Issue : 1  |  Page : 49-52

Syndromic association of spinal arteriovenous malformations: CLOVES syndrome


Department of Neurosurgery, GIPMER, New Delhi, India

Date of Submission21-Aug-2022
Date of Decision23-Aug-2022
Date of Acceptance25-Aug-2022
Date of Web Publication22-Sep-2022

Correspondence Address:
Dr. Mahesh Mahajan
Department of Neurosurgery, GIPMER, New Delhi
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jcvs.jcvs_21_22

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  Abstract 


The study design was a case report of spinal cord arteriovenous malformation (SCAVM) with various associations. The objective of this study was to demonstrate the need to identify atypical clinical associations with spinal arteriovenous malformation and their staged management. A 19-year-old boy was diagnosed with SCAVM after paraplegia and bowel bladder disturbances. However, a complete diagnosis of SCAVM with its syndromic association helps to treat the patient in holistic way. The correct diagnosis of SCAVMs and their type is difficult. Complete diagnosis relies on radiological investigations as well as detailed examination. The early and complete diagnoses of SCAVMs are important because patients are likely to have better functional statuses after treatment if their pre-treatment deficits are relatively mild.

Keywords: Congenital lipomatous overgrowth vascular malformations epidermal nevi and spinal/skeletal abnormalities (CLOVES), digital subtraction angiography, spinal cord arteriovenous malformations


How to cite this article:
Mahajan M, Singh D, Sahni HS, Bhandari S, Vishwakarma D. Syndromic association of spinal arteriovenous malformations: CLOVES syndrome. J Cerebrovasc Sci 2022;10:49-52

How to cite this URL:
Mahajan M, Singh D, Sahni HS, Bhandari S, Vishwakarma D. Syndromic association of spinal arteriovenous malformations: CLOVES syndrome. J Cerebrovasc Sci [serial online] 2022 [cited 2022 Oct 4];10:49-52. Available from: http://www.jcvs.com/text.asp?2022/10/1/49/356702




  Introduction Top


Spinal cord arteriovenous malformations (SCAVMs) are abnormally developed blood vessels can arise from any vascular components which result in clinical signs and symptoms secondary to mass effect and ischemia. Arteriovenous malformations (AVMs) of the spinal cord are relatively rare, being only one-tenth as common as cerebral AVMs and one-tenth as common as primary spinal neoplasms.[1] Pathophysiology involves increase in venous pressure due to shunting of blood (steal phenomenon) causing congestion in medullary veins and reduced intramedullary blood flow resulting in ischemic hypoxic insult to the spinal cord.[2] There are historical evolutions of the classification of spinal AVMs, as these are rare lesions, there is still a lack of clear comprehensive classification system. Many of these patients have associated anomalies which are often overlooked, these associations can directly attribute to the clinical outcome of the patient.


  Case Report Top


A 19-year-old male national Para-Olympic swimmer presented with sudden onset upper back ache referred to as chest wall, weakness of bilateral lower limb for the past 7–8 months and bowel bladder disturbances in the form of urinary incontinence and constipation for the past 1 month. For these progressive complaints, the patient was taken to the private hospital and was diagnosed to have spinal AVM. The patient was referred to our institute for further management. On clinical examination, vitals were essentially normal. On general physical examination, the patient had multiple lipomatous overgrowth over back, epidermal nevi all over the body, multiple musculoskeletal abnormalities including hypoplastic phalynx of the left hand and left forearm shortening. Moreover, the patient had bruit over the lower cervical spinal level (Virtually diagnostic of Type II/Type III spinal AVM, Oldfield and Doppman classification) [Figure 1]a, [Figure 1]b, [Figure 1]c.
Figure 1: (a) Epidermal nevi over the upper limb, (b) Lipomatous overgrowth over back, (c) Musculoskeletal abnormalities as hypoplastic left upper limb as compared to right with hypoplastic phalynx

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On neurological examination – tone was normal in the bilateral upper limb and increased in bilateral lower limb, DTR was exaggerated at triceps, knee and ankle joint with bilateral plantar extensor. The power was normal proximally bilateral upper limb, whereas there was distal weakness in the form of the finger grip 70%–80%. Spastic paraparesis at the hip, knee and ankle joint was 2/5 and 3/5 over the right-sided lower limb. There was sensory level demarcation at the C5 level.

On MRI T1 and T2 signal voids from high-velocity flow with dilated peri-medullary vessels scalloping of the cord from C5 to D1 level gave the impression of spinal AVM [Figure 2].
Figure 2: T2 signal voids from the high-velocity flow with dilated peri medullary vessels scalloping the cord from C5 to D1 level gave the impression of spinal AVM. AVM: Arteriovenous malformation

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The patient underwent diagnostic digital subtraction angiography (DSA) with selective and super selective shoots of bilateral vertebral arteries and other branches of the subclavian artery. Findings noted were feeder from the left vertebral artery (V2) segment, left thyrocervical trunk (cervical branch), right vertebral artery (V2) segment and right thyrocervical artery (cervical and inferior thyroid branches). The patient underwent two sessions of endovascular embolisation using n-butyl cyanoacrylate (NBCA) with duration of 3 days in between. A significant decrease in flow and nidus size was noted on post-embolisation DSA [Figure 3]a, [Figure 3]b, [Figure 3]c, [Figure 3]d.
Figure 3: (a) Feeder from the cervical branch (black Arrow) of the left thyrocervical trunk, (b) Post-NBCA embolisation decreased flow to AVM from the left thyrocervical feeder with cast in situ, (c) Feeder from the cervical branch of the right thyrocervical trunk (red arrow), (d) Post-NBCA embolisation (cast in situ) decreased flow to AVM from the right thyrocervical feeder with cast in situ. AVM: Arteriovenous malformation, NBCA: n-butyl cyanoacrylate

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However, on contrary, there was no significant clinical improvement was seen; hence the decision of laminectomy and AVM excision was taken. The patient was given pre-operative steroids to minimise cord swelling, underwent wide laminectomy and decompression after 2 weeks of endovascular embolisation. Intraoperatively, the patient had cervical scoliotic deformity and hypertrophied muscles of the back with abnormal bunch of vessels running right from the subcutaneous plane to the bony lamina level (Features of Type III, Juvenile or Metameric Spinal AVM where there are malformations of all derivatives of same metameric segment). Complexity of anatomy and torrential bleeding hindered the field of dissection and made surgery challenging. Secondary to the heavy bleed patient had fall of Hb to 2.6 g% and HCt 24, had intraoperative cardiac arrhythmias, considering haemodynamic instability procedure was abandoned and the patient was shifted to the post-operative intensive unit. The patient was extubated the next day and gradually weaned off from the inotropic support. The patient was kept on postoperative steroids and low-molecular-weight heparin to minimise thromboembolic events. No significant drain output was there and dressing over the wound was also dry. The patient showed clinical improvement with decrease in tone of lower limbs. Power in the right lower limb improved to 4/5 (From 3/5) and left lower limb 3/5 (from 2/5). This clinical improvement was attributed to laminectomy of C6-C7 vertebrae which led to decompression of the cord.

Considering the heavy bleed intraoperatively which suggested incomplete devascularisation of AVM, a 1-week post-laminectomy check DSA was performed which showed refilling of AVM nidus from left VA (V2) segment, left thyrocervical (cervical segment) and right thyrocervical trunk (cervical segment). The third setting of endovascular embolisation was done using GDC coils. Post-embolisation significant decreased flow was noted in AVM [Figure 4]a, [Figure 4]b, c, [Figure 4]d and [Figure 5]a, [Figure 5]b.
Figure 4: (a) Feeder from the cervical branch of the right thyrocervical trunk (black arrow), (b) Post-coil embolisation decreased flow to AVM from the right thyrocervical feeder with coils in situ. (c) Feeder from the cervical branch of the left thyrocervical trunk (red arrow), (d) Post-coil embolisation decreased flow to AVM from left the thyrocervical feeder with coils in situ. AVM: Arteriovenous malformation

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Figure 5: (a) Feeder from left VA (V2) segment (black arrow), (b) Post-coil embolisation decreased flow to AVM. AVM: Arteriovenous malformation

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With the various abnormalities present, there was a possibility that the patient could be having some syndrome. Hence, the list of differentials of various syndromes was made with features similar to the patients and further analysed. The differentials to rule out were CLOVES syndrome, Beckwith Wiedemann syndrome, Proteus syndrome, Klippel-Trenaunay syndrome, NF-1, Hemihyperplasia multiple lipomatosis,  McCune-Albright syndrome More Details and Langer-Geidon syndrome. Among the various syndromes, patient's anomalies fitted closely with CLOVES syndrome.

CLOVES syndrome is an acronym denoting rare condition consisting of Congenital Lipomatous Overgrowth Vascular malformation Epidermal nevi and Skeletal/Scoliosis/Spinal anomalies. CLOVES syndrome is a recently described sporadic overgrowth disorder with features of Truncal fatty overgrowth, vascular malformations, epidermal nevus and skeletal anomalies (including scoliosis and variable acral anomalies).[3] Other spinal comorbidities in CLOVES syndrome include scoliosis, vertebral anomalies, neural tube defects and tethered cord. Genetics – missense mutation of PIK3CA gene.

The aetiology of overgrowth syndromes associated with vascular anomalies, including CLOVES, is largely unknown.

These rare sporadic and asymmetric phenotypes could result from genetic mutations, which in autosomal form, would be lethal but which survive through mosaicism, as proposed by Happle.[4] In a review of the cohort of patients with CLOVES syndrome at Children's Hospital Boston, Alomari described the presence of spinal-paraspinal fast-flow lesions in 5 of 18 patients.[5] Alomari AI Characterization of a distinct syndrome that associates complex truncal overgrowth, vascular and acral anomalies: a descriptive study of 18 cases of CLOVES syndrome. Some of the cardinal features of CLOVES syndrome may appear to overlap other overgrowth disorders, such as Klippel–Trenaunay syndrome, Cobb syndrome, Proteus syndrome and Parkes  Weber syndrome More Details [Table 1].
Table 1: Various syndromes associated with spinal arteriovenous malformations

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  Discussion Top


SCAVMs are relatively rare, comprising about 1/10 of all central nervous system AVMs and 3%–4% of all spinal cord masses.[6] SCAVMs often result in neurological deficits and disabilities initially and >70% of patients will show improvement after adequate treatment and rehabilitation.[7],[8] Early diagnoses of SCAVMs are important because patients are likely to have better functional statuses after treatment if their pre-treatment deficits are relatively mild.[9] The present case illustrates the significance of detailed clinical examination which can assist in diagnosing various syndromic associations with SCAVMs. CLOVES syndrome is an acronym denoting rare condition consisting of Congenital Lipomatous Overgrowth Vascular malformation Epidermal nevi, Skeletal/Scoliosis/Spinal anomalies. Genetics–missense mutation of PIK3CA gene results in CLOVES syndrome.

Type III (Juvenile/Metameric) AVM is lesions most difficult to treat, with high flow and large malformations involving paraspinal structures as well. Neurological deficits are secondary to venous congestion, haemorrhage, spinal cord compression or vascular steal. The treatment of such lesions is mainly palliative in goal of stabilising the nidal size and symptoms.[10],[11] Staged endovascular partial treatment of these malformations may serve to reduce the size and alleviate congestive symptoms. Half of the patients with partially treated Type III SCAVMs neurologically stabilise or improve, although they may need treatment in the future.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Rodesch G, Lasjaunias P. Spinal cord arteriovenous shunts: From imaging to management. Eur J Radiol 2003;46:221-32.  Back to cited text no. 1
    
2.
da Costa L, Dehdashti AR, terBrugge KG. Spinal cord vascular shunts: Spinal cord vascular malformations and dural arteriovenous fistulas. Neurosurg Focus 2009;26:E6.  Back to cited text no. 2
    
3.
Turner JT, Cohen MM Jr., Biesecker LG. Reassessment of the Proteus syndrome literature: Application of diagnostic criteria to published cases. Am J Med Genet A 2004;130A: 111-22.  Back to cited text no. 3
    
4.
Happle R. Lethal genes surviving by mosaicism: A possible explanation for sporadic birth defects involving the skin. J Am Acad Dermatol 1987;16:899-906.  Back to cited text no. 4
    
5.
Alomari AI. Characterization of a distinct syndrome that associates complex truncal overgrowth, vascular, and acral anomalies: A descriptive study of 18 cases of CLOVES syndrome. Clin Dysmorphol 2009;18:1-7.  Back to cited text no. 5
    
6.
Rodesch G, Hurth M, Alvarez H, Ducot B, Tadie M, Lasjaunias P. Angio-architecture of spinal cord arteriovenous shunts at presentation. Clinical correlations in adults and children. The Bicêtre experience on 155 consecutive patients seen between 1981-1999. Acta Neurochir (Wien) 2004;146:217-26.  Back to cited text no. 6
    
7.
Westphal M, Koch C. Management of spinal dural arteriovenous fistulae using an interdisciplinary neuroradiological/neurosurgical approach: Experience with 47 cases. Neurosurgery 1999;45:451-7.  Back to cited text no. 7
    
8.
Cogen P, Stein BM. Spinal cord arteriovenous malformations with significant intramedullary components. J Neurosurg 1983;59:471-8.  Back to cited text no. 8
    
9.
Riché MC, Modenesi-Freitas J, Djindjian M, Merland JJ. Arteriovenous malformations (AVM) of the spinal cord in children. A review of 38 cases. Neuroradiology 1982;22:171-80.  Back to cited text no. 9
    
10.
Steinmetz MP, Chow MM, Krishnaney AA, Andrews-Hinders D, Benzel EC, Masaryk TJ, et al. Outcome after the treatment of spinal dural arteriovenous fistulae: A contemporary single-institution series and meta-analysis. Neurosurgery 2004;55:77-87.  Back to cited text no. 10
    
11.
Hodes JE, Merland JJ, Casasco A, Houdart E, Reizine D. Spinal vascular malformations: Endovascular therapy. Neurosurg Clin N Am 1999;10:139-52.  Back to cited text no. 11
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]
 
 
    Tables

  [Table 1]



 

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