Twenty-seven years follow-up of a patient with congenital retinocephalofacial vascular malformation syndrome and additional congenital malformations (Bonnet-Dechaume-Blanc syndrome or Wyburn-Mason syndrome)
© I. Holzapfel Publishers 2010
Received: 4 November 2009
Accepted: 11 November 2009
Published: 26 February 2010
Follow-up of vascular changes in a patient with congenital retinocephalofacial vascular malformation syndrome.
MRI and cerebral angiography.
In a 36-year-old man, magnetic resonance im aging of the skull and cerebral angiography revealed left intracranial arteriovenous malformations. Follow-up observation of 27 years revealed no essential change of retinal and cerebral arteriovenous malformations. Additional congenital deficits in this patient were described.
Patients with retinal arteriovenous malformations should be early examined with neuroradiological methods.
KeywordsCongenital arteriovenous retinal malformation Wyburn-Mason syndrome Bonnet-Dechaume-Blanc syndrome intracranial arteriovenous malformation atrial septum defect hiatal hernia aplasia of the temporal lobe
The "congenital retinocephalofacial vascular malformation syndrome" ("CRC syndrome") is a sporadic disorder. This syndrome is defined by unilateral retinal, cerebral arteriovenous malformations (AVMs), and vascular facial skin lesions.
Bonnet, Dechaume and Blanc (1937) published this triad in two patients.
Wyburn-Mason (1943) described the malformation of the eye, brain, and face as an entity. This combination of vascular malformations is therefore refered to as Bonnet-Dechaume-Blanc syndrome or Wyburn-Mason syndrome. We prefer to call this special form "congenital retinocephalofacial vascular malformation syndrome" ("CRC syndrome") (Schmidt et al. 2008). Bhattacharya et al. (2001) described 15 patients with different location of AVMs, mainly in the orbit, retina, and brain which they called arteriovenous metameric syndromes (CAMS), however only one of the 15 patients revealed the typical features of a CRC-syndrome.
AVMs represent rare vascular changes in which a direct connection of major arterial and venous vessels without interposition of capillaries may lead to various complications such as thrombosis and vessel occlusion. AVMs are considered to be high-flow systems (Mansour et al. 1989). In the following case report of a man with long follow-up observation, no complication of AVMs occurred.
Case report of a patient with longstanding unusual malformations
A 36-year-old man was examined over 27 years after the diagnosis of a congenital retinocephalofacial vascular malformation syndrome (CRC syndrome) was made. At the age of nine years unilateral retinal vascular abnormalities were initially observed.
At the age of 13 years, CT scan revealed an arachnoidal cyst of the left temporal side in association with partial aplasia of the temporal lobe. The pediatric examination at this time showed no involvement of other organs. During the following 27 years, no ocular or neurologic deficits were observed. At the age of 32 years, the patient complained of occasional headache and sought our advice. He never complained about visual disturbances.
At each examination, visual acuity was 20/20 in both eyes (last examination in October 2008). Myopia in the right eye increased during follow-up observation. In 1985 visual acuity was 20/20 without correction. In 2004 right eye correction was -2.25 dpt, and left eye correction was -0.50 dpt. In October 2008 the correction in the right eye was -3.75 dpt. and in the left eye -0.50 dpt. This corresponded to the lengths of the globe, measured by echography, which was 24.1 mm right and 22.9 mm in the affected left eye. The Goldmann visual field and the Octopus visual field of the right eye showed an absolute scotoma in the temporal upper mid-peripheral field. The Octopus visual field of the left eye showed absolute scotomas mainly in the nasal, upper, and temporal field regions. The Goldmann visual field of the left eye revealed an enlarged blind spot with absolute scotomas in the temporal mid-periphery of the field. The eye pressure was normal in both eyes.
Apart from the AVCR, the patient presented with additional congenital deficits. At the age of 28 years, an atrial septum defect was detected by echocardiography. He also suffered from reflux esophagitis caused by a hiatal hernia („plus disease"). The left side of his face and also the mucous membrane of the cheek showed slight vascular changes appearing with a bluish colour.
At the age of nine years retinal AVMs of the left eye were observed for the first time in our patient. Follow-up observation from his 9th to his 36th year of age revealed no essential change of retinal and cerebral AVMs.
In four patients systemic features associated to a CRC syndrome were described ib the literature: only one kidney (Wyburn-Mason 1943, case 7), retardation of growth in left side of the body (von Winning 1976, case 1), and subcutaneous vascular malformation in the occipital area (Picard et al. 1973).
Follow-up observation of 27 years in our patient revealed no essential change of retinal and cerebral arteriovenous malformations. Although this is the longest follow-up observation of a patient with this rare syndrome described in the literature.
Deterioration can develop in all patients with cerebral AVMs, particularly if the nidus increases in size. Known cerebral complications include cranial nerve palsies, hemianopia, hemiparesis, convulsions, intracerebral or subarachnoidal hemorrhage (SAH).
Archer et al. (1973) reported on severe epistaxis and bleeding from the gums due to vascular changes in the cheek, maxilla, and zygoma when the patient was 14 years old. At the age of 23 years, SAH occurred due to large AVMs in suprasellar area.
Cameron (1958) reported on retinal AVMs for about 14 years in the right blind eye of a 23-year-old woman. At the age of 16, paresis of the left arm and hand developed.
Spontaneous regression of cerebral AVM is extremely unusual but has been observed in single cases.
Brodsky and Hoyt (2002), described spontaneous involution of retinal and intracranial AVMs in a 32-year-old man. The lack of hypertrophy in draining venous channels, together with the regional edema, suggested a recent obstruction of vascular flow within the vascular malformation.
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