We report a case of a 45-year-old woman known to have a familial form of blue rubber-bleb nevus syndrome (BRBNS). The patient developed severe occipital headaches and bilateral retroauricular bruits. Cerebral angiography showed a large dural arteriovenous fistula in the torcular region. Central nervous system involvement in BRBNS is not often reported, and most cases of BRBNS are sporadic

Barbosa, V

Carvalho, S

Machado, E

Santos, N

CHUC Institutional Repository

Blue rubber-bleb nevus syndrome: report of a familial case with a dural arteriovenous fistula

Name not available

Repositório Institucional dos Hospitais da Universidade de Coimbra

Blue Rubber-Bleb Nevus Syndrome: Report of aFamilial Case with a Dural Arteriovenous FistulaSı´lvia Carvalho, Vieira Barbosa, Nuno Santos, and Egidio MachadoSummary: We report a case of a 45-year-old woman known tohave a familial form of blue rubber-bleb nevus syndrome(BRBNS). The patient developed severe occipital headachesand bilateral retroauricular bruits. Cerebral angiographyshowed a large dural arteriovenous fistula in the torcularregion. Central nervous system involvement in BRBNS is notoften reported, and most cases of BRBNS are sporadic.Blue rubber-bleb nevus syndrome (BRBNS) is arare disease characterized by cavernous angiomas ofthe skin and gastrointestinal tract. Bean described thecondition in 1958 (1), and more than 200 cases havebeen reported since then. The lesions are usuallypresent at birth or appear in early childhood, and theytend to increase in size and frequency with age. Vas-cular malformations may be present in other loca-tions, and a few reports describe associated involve-ment of the central nervous system. Most cases aresporadic, but dominant autosomal or sex-linked trans-mission has been reported in some families.We report a case of BRBNS associated with a duralarteriovenous fistula (DAVF). We wish to emphasizethe possibility of brain involvement in BRBNS andalso the familial incidence of the disease.Case ReportA 45-year-old woman with a confirmed diagnosis of BRBNSwas referred for neurologic consultation (V.B.) because of a6-month history of severe occipital headaches provoked byphysical stress. Complaints of bilateral retroauricular bruitwere also noted.BRBNS had been diagnosed when the patient was aged 39years on the basis of the typical appearance and histologicfeatures of cutaneous and digestive lesions. Multiple bluishmasses of various sizes had been present on the patient’s trunk,limbs, upper lip, and tongue for several years. These massesincreased in size and number as the patient aged. The lesionswere soft, compressible, and painless. The skin biopsy specimenof a cutaneous lesion demonstrated a cavernous angioma. Up-per gastrointestinal tract endoscopy performed at the age of 39years revealed esophageal and gastric cavernous angiomas, andresults of tests for occult blood in the stool were positive. Fouryears later, the patient had to be treated for severe microcyticand hypochromic anemia.The patient’s two daughters, aged 25 and 21 years, were saidto have similar skin lesions, as did her father and two sisters. Infact, her daughters had skin lesions typical of BRBNS.Neurologic examination showed right enophthalmos andptosis, which had been present from early childhood. Motorand sensory findings were normal. The patient had no abnor-mal eye movements, and the results of a funduscopic examina-tion were unremarkable. Cranial CT revealed some dilatedintracranial veins, cerebral edema, and a lacunar stroke involv-ing the left caudate nucleus.The patient was admitted to the neurology department foradditional studies and treatment. Results of routine bloodchemistry and coagulation tests were normal. MR imaging ofthe brain demonstrated enlarged cortical veins in the cerebralhemispheres and posterior fossa (Fig 1A), enlarged torcularherophili, straight and falcine sinuses, and tonsillar prolapse(Fig 1B). Images also demonstrated thrombosis of the leftsigmoid sinus. Cerebral angiography demonstrated a largeDAVF in the torcular region. The lesion was supplied byseveral enlarged branches of the right and left occipital, middlemeningeal (Fig 2A), and ascending pharyngeal arteries, as wellas by branches of the right meningohypophyseal trunk. Addi-tional supply originated from dural branches of both vertebralarteries and from a transarachnoid anastomosis from the su-perior cerebellar arteries. The left sigmoid sinus was occluded,and severe right jugular bulb stenosis caused insufficient drain-age through the right sigmoid and lateral sinuses, resulting inretrograde flow into the straight and superior sagittal sinuses.The cerebral veins opened into the diploic and facial veins andtoward the cavernous sinus, whereas the posterior fossa venoussystem opened into the suboccipital venous plexus and medul-lary veins (Fig 2B).The patient underwent endovascular embolization of duralbranches of the right occipital and right middle meningealarteries with Histoacryl (Enbucrilate; Braun, Tuttlingen, Ger-many). Her headaches resolved after embolization, and she wasdischarged home from the hospital. Eight months later, thepatient still complained of a retroauricular bruit, which wasmore intense on the left side. Therefore, the dural branches ofthe left occipital and left middle meningeal arteries supplyingthe fistula were embolized with Histoacryl. About 1 year later,after a subacute onset of seizures and a deterioration of con-sciousness, the patient was admitted with a diagnosis of intra-cranial hypertension. Further embolization of branches of theright occipital artery, the left middle meningeal artery, bothvertebral arteries, and the posterior meningeal artery arisingfrom left posteroinferior cerebellar artery was performed. Thepatient improved. When this report was written, the patientwas being followed up as an outpatient, and she no longerreported cranial bruit or headaches.The patient’s daughters also underwent cerebral MR imag-ing to look for cerebral vascular malformations. One of themhad a developmental venous anomaly (DVA) in the cerebel-lum, and the other had a cavernous angioma of the orbit.DiscussionAs usual, the main clinical features leading to thediagnosis of BRBNS in our patient were vascularReceived December 3, 2002; accepted after revision March 25,2003.From the Departments of Neuroradiology (S.C., N.S., E.M.) andNeurology (V.B.), Hospitais da Universidade de Coimbra, Portugal.Address reprint requests to Sı´lvia Carvalho, Neuroradiology De-partment, Hospitais da Universidade de Coimbra Av. Bissaya Bar-reto e Praceta Mota Pinto, 3000 Coimbra, Portugal.© American Society of NeuroradiologyAJNR Am J Neuroradiol 24:1916–1918, October 2003Case Report1916malformations of the skin and gastrointestinal tract.The vascular malformations of the skin are usuallybluish, soft, and easily compressible, leaving an emptysac that refills slowly (2). Blue rubber-bleb nevi typi-cally show cavernous spaces lined by a single layer ofendothelial cells and separated by varying amounts ofcollagenous and fibrous tissue (3, 4). Unlike the cu-taneous lesions, intestinal angiomas commonly bleed,producing anemia (2). Many other locations may beinvolved: the oronasopharynx, liver, spleen, heart,lung, pleura, peritoneum, kidney, thyroid, parotid,skeletal muscle, bone, bladder, brain, penis, vulva andeyes (2, 5, 6). Systemic complications, particularlychronic disseminated intravascular coagulation, canoccur (7–9).Central nervous system involvement is rarely de-scribed in cases of definite or possible BRBNS. Mostcases are associated with cerebral vascular malforma-tions, which have been designated hemangiomas orangiomas; these may correspond to cavernous mal-formations (7, 8, 10–13). In 1978, Waybright et al (4)described a patient with BRBNS who presented withfocal seizures and focal neurologic signs. That patienthad various cerebral vascular malformations, includ-ing thrombosis of a vein-of-Galen malformation, cav-ernous angiomas, and arteriovenous malformations.Some then suggested that the pathologic features inBRBNS could be more varied than previously recog-nized (4, 5). BRBNS was found to be associated withdifferent conditions, including sinus pericranii and agiant venous angioma (14), vertebral hemangiomacausing spinal cord compression and vertebral col-lapse (15), vascular dementia due to chronic dissem-inated intravascular coagulation, and multiple cere-bral infractions (16). BRBNS has also been associatedwith a cerebellar medulloblastoma in a patient withno vascular malformations in the central nervous sys-tem (16).Among the reports of nervous-system involvementin BRBNS, ours may be the first case that describesan association of BRBNS with DAVFs. IntracranialDAVFs are arteriovenous shunts imbedded in thedura mater and consist of abnormal direct communi-cations from a dural arterial supply to a dural venousdrainage. They account for 10–15% of all intracranialarteriovenous malformations, and more than one-halfof them occur in the posterior fossa. DAVFs clearlyseem to be acquired lesions preceded by dural venousobstruction. Our patient had evidence of sinus throm-bosis, which may have predisposed her to the forma-tion of the arteriovenous fistula.Hematologic disturbances, such as chronic dissem-inated intravascular coagulation, have been reportedin a few cases of BRBNS (7–9), but they were notfound in our patient.One patient’s daughter had BRBNS in associationFIG 1. MR images obtained on admission.A, Axial proton density–weighted image(2530/25 [TR/TE]) shows enlarged veins inthe posterior fossa.B, Sagittal T1-weighted image (450/15)shows an enlarged straight sinus and thepresence of a falcine sinus. Note the ton-sillar prolapse.FIG 2. Carotid and vertebral angiograms.A, Left common carotid artery angio-gram demonstrates a DAVF in the torcularregion. It is supplied by both the occipitaland middle meningeal arteries and drainsin a retrograde fashion in the superior sag-ittal and straight sinuses. Note the pres-ence of a falcine sinus.B, Venous phase of a left vertebral an-giogram shows substantial venous stagna-tion in the posterior fossa. Note the dilatedpremedullary and retromedullary veins.AJNR: 24, October 2003 BLUE RUBBER-BLEB NEVI 1917with a cerebral DVA. In a series of 40 patients (17),the frequency of DVAs with extensive superficial cer-vicofacial venous malformations was found to be20%, in contrast with the frequency of 0.05–0.25% inthe general population. Because most cerebral DVAsare asymptomatic and incidentally discovered duringautopsy or imaging studies, they may be more fre-quently associated with BRBNS than the reports ofBRBNS suggest.The presence of cutaneous lesions typical ofBRBNS should alert the clinician to the potential forintracranial vascular malformations. Furthermore,dural arteriovenous shunts should be added to the listof vascular malformations associated with BRBNS.The present case is also relevant because of thefamilial history. Although most cases of BRBNS aresporadic, dominant autosomal transmission has beenreported in a few families (18–21), as in ours. A genefor familial venous malformations has been mappedto chromosome arm 9p in large kindreds (22, 23), andsome have suggested that the gene for autosomaldominantly inherited venous malformations might beidentical to that of BRBNS (23).References1. Bean WB. Blue rubber bleb nevi of the skin and gastrointestinaltract. 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Interferon alfa-2a fordisseminated intravascular coagulation in a patient with blue rub-ber bleb nevus syndrome: a case report. Angiology 1997;48:273–2778. Hashimoto Y, Eto K, Uyama E, Uchino M, Araki S. Blue rubberbleb nevus syndrome presented vascular dementia and chronicDIC: a case report. Rinsho Shinkeigaku 1989;29:202–2089. Oranje AP. Blue rubber bleb nevus syndrome. Pediatr Dermatol1986;3:304–31010. Jaffe RH. Multiple hemangiomas of the skin and of the internalorgans. Arch Pathol 1929;7:44–5411. Wood MW, With RJ, Kernohan JW. Cavernous hemangiomatosisinvolving the brain, spinal cord, heart, skin and kidney. Proc MayoClin 1957;32:249–25412. Satya-Murti S, Navada S, Eames F. Central nervous system involve-ment in blue rubber bleb nevus syndrome. Arch Neurol 1986;43:1184–118613. Gil Nu´n˜ez AC, Mateo D, La´zaro P, Gime´nez-Rolda´n S. Multiplecalcifying hemangiomas of the brain and the blue rubber blebnevus syndrome. Arch Neurobiol (Madr) 1983;46:167–17614. Sherry RG, Walker ML, Meredith VO. Sinus pericranii and ve-nous angioma in the blue rubber bleb nevus syndrome. AJNR Am JNeuroradiol 1984;5:832–83415. Garen PD, Sahn EE. Spinal cord compression in blue rubber blebnevus syndrome. Arch Dermatol 1994;130:934–93516. Rice JS, Fischer DS. Blue rubber bleb nevus syndrome: generalizedcavernous hemangiomatosis or venous hamartoma with medullo-blastoma of the cerebellum—case report and review of literature.Arch Dermatol 1962;86:503–51117. Boukobza M, Enjolras O, Guichard JP, et al. Cerebral developmentvenous anomalies associated with head and neck venous malfor-mations. AJNR Am J Neuroradiol 1996;17:987–99418. Jumbou O, Bureau B, Fleischmann M, Litoux P, Stalder JF. Bluerubber bleb nevus syndrome. Ann Dermatol Venereol 1993;120:241–24319. Kisu T, Yamaoka K, Uchida Y, et al. A case of blue rubber blebnevus syndrome with familial onset. Gastroenterol Jpn 1986;21:262–26620. Munkvad M. Blue rubber bleb nevus syndrome. Dermatologica1983;167:307–30921. Arguedas MR, Wilcox CM. At the focal point: blue rubber blebnaevus syndrome. Gastrointest Endosc 1999;50:54422. Boon LM, Mulliken JB, Vikkula M. Assignment of a locus fordominantly inherited venous malformations to chromosome 9p.Hum Mol Genet 1994;3:1583–158723. Gallione CJ, Pasyk KA, Boon LM, et al. A gene for familial venousmalformations maps to chromosome 9p in a second large kindred.J Med Genet 1995;32:197–1991918 CARVALHO AJNR: 24, October 2003

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Blue rubber-bleb nevus syndrome: report of a familial case with a dural arteriovenous fistula

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