Arteriovenous Malformation associated with Wyburn Mason Syndrome

 

Anjumol Raju¹, Mayank N², Sreehari NR², Lakshmi R¹

¹Department of Pharmacy Practice, Amrita School of Pharmacy, Amrita Vishwa Vidyapeetham, Kochi, 682041, Kerala, India.

² Department of Neurosurgery, Amrita Institute of Medical Science and Research Centre, Amrita Vishwa Vidyapeetham, Kochi, 682041, Kerala, India

 

ABSTRACT:

Wyburn Mason syndrome (aka Bonnet Dechaume Blanc syndrome) is an extremely rare congenital non-hereditary disorder, associated with the development of multiple ipsilateral arteriovenous malformation (AVM) in the retinal and intracranial regions. Some of its clinical manifestations include seizure, visual impairment, hemiparesis, headaches, cranial neuropathies and hydrocephalus and the severity depends on the location, size and configuration of affected portion of central nervous system (CNS). We report a 19year old male presented with an episode of Generalized Tonic Clonic Seizure type and intermittent left sided headaches along with dilated tortuous vessels of the left eye over the optic disc. Computerized tomography (CT) brain revealed hematoma in the left ganglio-capsular bleed with extension into ipsilateral lateral ventricle and thus was conservatively managed.

 

 

INTRODUCTION:

Wyburn Mason syndrome (aka Bonnet Dechaume Blanc syndrome) being an extremely rare congenital non-hereditary disorder, is associated with the development of multiple ipsilateral arteriovenous malformation (AVM) in the retinal and intracranial regions^[1],[2]. It could also be presented as vascular abnormalities in the facial region including maxilla and mandible^[3],[4]. This syndrome could be presented in the form of wide arrays of neurological symptoms based on the location, size and configuration of affected portion of CNS^[5]. Some of its clinical manifestations include seizure^[6],[7], visual impairment, hemiparesis, headaches, cranial neuropathies as well as hydrocephalus^[5]. In some patients, symptoms such as haematuria, haemoptysis, epistaxis or flank bleeding mayalso be observed^[5]. Patients with such syndrome may exhibit retinal involvement at early stages of their life which could progress to severe visual impairment^[5].

 

This could occur due to various causes such as obscuration of visual centers, choroidal infarction, retinal ischemia, optic nerve compression or retinal vascular occlusions. Severity of symptoms often depends on the size of the retinal AV ranging from no visual impairment to severe vision loss^[5]. Such syndrome arises from various insults caused during the embryonic period and thus affects the development of primitive vascular mesoderm which is shared by developing optic cup and anterior neural tube^[5]. As a consequence, retinal and hyaloid vessels of the eye as well as vasculature of the midbrain gets affected in an ipsilateral fashion thereby giving rise to anomalous vessels in such regions^[5].

 

Through our case report, we have emphasised on the clinical presentation, diagnosis as well as treatment of a 19 year old patient presented with Wyburn Mason syndrome along with retinal and cranial complications.

 

CASE REPORT:

A 19yr old male patient was presented with an episode of Generalized Tonic Clonic Seizure type and had a previous history of left diencephalic arteriovenous malformation (Spetzler-Martin AVM grade 5) and communicating hydrocephalus which were diagnosed using 4 vessel digital subtraction angiography (DSA), following which he underwent long tract external ventricular drain (EVD) 2 years back. On clinical evaluation the patient was found to be unconscious with pupils unreactive to light and showed a Glasgow coma scale (GCS) score of 3 i.e E (eye opening)1, V (verbal response)1, M (motor response)1. He had a previous history of intermittent left sided headaches and febrile seizure. For a further evaluation, CT brain (plain) was performed which showed a 9.5cm x 6.3cm hyperdense hematoma in the left ganglio-capsular bleed with extension into ipsilateral lateral ventricle causing midline shift of 1.6cm to the right. A descending transtentorial herniation and with impending tonsillar herniation was seen along with diffused cerebral edema. Multiple specks of calcifications was also seen on the left gangliocapsular region and thalamus. He was taken up for an emergency left decompressive craniectomy and was monitored for neurological and hemodynamic stabilization. His post-operative CT brain (Plain) showed midely reduced size of hematoma in the left gangliocapsular region (i.e 7.2cm x 4cm). The midline shift as well as ventricular bleed was seen to be reduced along with tonsillar herniation improvement. His GCS score increased from 3 to 5 during the post-operative period.

 

He developed redness in the eyes and bilateral pupil sluggishness. He had conjunctival infection and eye chemosis with dilated tortuous vessels of the left eye over the optic disc, suspecting venous hemangioma. The patient had retinoencaphalofacial angiomatosis and deteriorating loss of vision in the left eyes since 5yrs of age. Thus the patient was diagnosed of Wyburn Mason syndrome considering the intracranial and retinal findings.

 

DISCUSSION:

Wyburn Mason syndrome is an extremely rare congenital disorder with an unknown etiology. It has very low prevalence rate and therefore very few published literatures are available^[8]. It is mainly characterised by abnormal development of retinal and cranial vasculature which ultimately leads to AVM formation and related complication. In such patients, retinal impairment seems to be progressive over their lifetime and in some cases, acute onset of such complications can be seen as well^[4]. Posterior poles of the retina tends to be mostly affected in this syndrome where it appears typically as irregular, tortuous and dilated vessels. Retinal or orbital AVMs results in decreased visual acuity, proptosis, pupillary defects, optic atrophy, congestion of bulbar conjunctiva and visual fields defects^[4]. Such vascular abnormalities predisposes to the formation of aneurysm, fibrosis, atherosclerotic plague with calcification as well as thrombosis^[9],[10]. Vascular decompensation in response to retinal AVM is another mechanism that contributes to visual impairment^[11]. Ischemic damage following vasculature occlusion could result as a consequence of thrombosis or retinal vein compression. Although in majority of the patients retinal involvement is observed however there had been reported cases without visual field impairment as well^[12]. In this case the patient too displayed retinal AVMs as eye chemosis with dilated tortuous vessels of the left eye over the optic disc along with conjunctival infection. This patient had a progressively deteriorating vision loss since an early age of life.

 

Neurological presentation varies depending on the site and extent of cerebral lesion while some could remain asymptomatic throughout their life^[9]. In a review conducted by Dayani et al, the orbital region was found to be affected most frequently which was followed by thalamus, hypothalamus, optic chiasm and suprasellar area^[4]. Clinical manifestation includes headache, retro-orbital pain, papilledema, hemiparesis, mental retardation, irritability, cerebellar dysfunction and Parinaud’s syndrome^[13],[14]. Some of the potential mechanisms contributing to neurological complications includes haemorrhage, ischemia and compression by the expanding AVM. Most of the above mentioned signs and symptoms were manifested in our patient with a long standing history of intermittent headaches and seizures.

 

Angiomas arising from cutaneous lesion tends to affect facial skin and nerves especially in the maxilla and mandible region^[4]. They may be presented as mild erythematous discolouration which on further insult could increase the risk of severe epistaxis and gingival hemorrhage^[15],[16]. However in our case, AVM associated with facial nevi was not observed.

 

Intracranial AVM associated with WMS can be diagnosed using computed tomography (CT), magnetic resonance imaging (MRI), magnetic resonance angiography (MRA) as well as cerebro arteriography amongst which MRI is the widely accepted diagnostic technique. These imaging techniques helps in provides a better insight into the extent and location of vascular lesions affecting brain, orbit and other adjacent regions^[4]. Ophthalmoscopy, fluorescence angiography and ultrasound optical coherence tomography are few other diagnostic method employed for detecting retinal AVMs^[5].

 

Treatment of Wyburn Mason syndrome is often managed symptomatically by closely observing the lesions and patient’s condition. Surgical modalities have been found to be effective in controlling symptomatic haemorrhages and small AVMs^{[17], [18]}. Embolization and radiation therapy are some of the other promising treatment modalities for AVMs associated with Wyburn Mason syndrome^{[19], [20]}.

 

CONCLUSION:

Clinical manifestations of Wyburn Mason syndrome may differ from patient to patient. Being an extremely rare disorder, requires more extensive research into the treatment modalities which could enhance our knowledge about such orphan syndromes. Moreover early identification of the affected patients could aid in preventing fatal complications to an extent.

 

ABBREVIATIONS:

AVM- arteriovenous malformation

DSA - digital subtraction angiography

CT - computed tomography

MRI- magnetic resonance imaging

EVD - external ventricular drain

GCS - Glasgow coma scale

 

CONFLICT OF INTEREST:

The authors declare that there is no conflict of interest.

 

REFERENCE:

1.      Iwata A et al. Binarization of enhanced depth imaging optical coherence tomographic images of an eye with Wyburn-Mason syndrome: a case report. BMC ophthalmology. 2015 Dec; 15(1):19.

2.      Kolomeyer AM, Laviolette R, Winter TW. Wyburn-Mason Syndrome. Ophthalmology. 2016 Jan 1; 123(1):50.

3.      Guo HP, Su IC, Wang TJ. Wyburn-Mason syndrome. Bmj. 2018 Mar 8; 360:k639.

4.      Dayani PN, Sadun AA. A case report of Wyburn-Mason syndrome and review of the literature. Neuroradiology. 2007 May 1; 49(5):445-56.

5.      So JM, Holman RE. Wyburn-Mason Syndrome.

6.      Abraham S, Shaju M. Innovations in epilepsy management–an overview. Journal of Pharmacy & Pharmaceutical Sciences. 2013 Sep 26; 16(4):564-76.

7.      AP A. Study to Assess the Seizure Severity, Depression and Quality of Life among Patients with Epilepsy at AIMS, Kochi. Indian Journal of Public Health Research & Development. 2018 Apr 1; 9(4).

8.      Schmidt D, Pache M, Schumacher M. The congenital unilateral retinocephalic vascular malformation syndrome (Bonnet-Dechaume-Blanc syndrome or Wyburn-Mason syndrome): review of the literature. Survey of ophthalmology. 2008 May 1; 53(3):227-49.

9.      Vucic D et al. Duane type I retraction syndrome associated with Wyburn-Mason syndrome. Ophthalmic genetics. 2013 Jun 1; 34(1-2):61-4.

10.   Kirkpatrick P et al. Neurosurgical management of aneurysmal subarachnoid haemorrhage. J Neurol Neurosurg Psychiatry. 2000; 68(4):538E.

11.   Wyburn-Mason R et al. Arteriovenous aneurysm of mid-brain and retina, facial naevi and mental changes. Brain. 1943 Sep 1; 66(3):163-203.Bernath Petersen P(1979).

12.   Bernth‐Petersen Pe et al. Racemose haemangioma of the retina: Report of three cases with long term follow‐up. Actaophthalmologica. 1979 Aug; 57(4):669-78.

13.   Sahoo IM, Sahoo RN, Das BS. Arteriovenous malformation of brain and eye. Indian journal of ophthalmology. 1982 May 1; 30(3):155.

14.   Tchen PH et al. Wyburn-Mason syndrome--a case report. Taiwan yixuehuizazhi. Journal of the Formosan Medical Association. 1985 Nov; 84(11):1294-300.

15.   Theron J, Newton TH, Hoyt WF. Unilateral retinocephalic vascular malformations. Neuroradiology. 1974 Jul 1; 7(4):185-96.

16.   Brown DG, Hilal SK, Tenner MS. Wyburn-Mason syndrome: report of two cases without retinal involvement. Archives of neurology. 1973 Jan 1; 28(1):67-8.

17.   Sundaralingam Mp, Muthukumar N. Retinocephalic vascular malformation: case report. British journal of neurosurgery. 1998 Jan 1; 12(5):458-60.ss

18.   Singh A D, Rundle P A, Rennie I. Retinal vascular tumors. Ophthalmol Clin North Am 2005(18)167–176.

19.   Mechanick JI, Hochberg FH, LaRocque A. Hypothalamic dysfunction following whole-brain irradiation. Journal of neurosurgery. 1986 Oct; 65(4):490-4.

20.   Duffner PK et al. Long‐term effects of cranial irradiation on endocrine function in children with brain tumors a prospective study. Cancer. 1985 Nov 1; 56(9):2189-93.

 

 

 

 

 

Received on 17.05.2019           Modified on 10.06.2019

Accepted on 02.07.2019         © RJPT All right reserved