The Neuroradiology Journal 21: 327-330, 2008
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Giant Intracerebral Telangiectasia in a Case of Blue Rubber-Bleb Nevus Syndrome J. SEDAT, Y. CHAU, M. POPOLO, M. LONJON Neuroradiology Department, Hôpital St Roch, CHU NICE; Nice, France
Key words: cerebral venous malformation, blue rubber bleb nevus syndrome
SUMMARY – Blue rubber-bleb nevus syndrome is a rare condition that consists of multiple venous malformations involving several organ systems, mainly the skin and gastrointestinal tract. Involvement of the central nervous system is particularly rare. We describe a patient with a huge intracerebral telengiectasia revealed by a progressive neurological deficit.
Introduction Blue rubber-bleb nevus syndrome (BRBNS) consists of venous malformations of the skin and viscera, predominantly in the gastrointestinal tract, but potentially involving all organs. Nevertheless, central nervous system (CNS) involvement is very rare. Although they have often been mislabelled, presented in the literature as vascular malformations, hemangiomas, or angiomatosis, the CNS lesions of BRBNS also correspond to venous malformations which share the same histopathologic and etiologic characteristics as the cutaneous lesions. Case Report A 54-year-old man with a confirmed diagnosis of BRBNS was referred for neurological consultation. For two years the patient had complained of an isolated progressive weakness of the right upper limb, without any other symptom. Clinical neurological evaluation showed an isolated motor deficit of the right arm; total body examination demonstrated multiple bluish masses on the trunk, forearms, scalp, and tongue (figure 1). These masses were painless, soft and compressible. BRBNS had been diagnosed when the patient was 40 years old based on distinctive visual appearance and histological features of cutaneous lesions. At the age of 42, the patient had been
hospitalized for an intracranial right frontal haematoma due to the rupture of a right frontal and medial arteriovenous malformation. The patient had been treated surgically and discharged without any residual neurological symptom. At the age of 52, the patient was again admitted to the hospital with partial seizures. In addition to the postoperative cavity, the cerebral MRI done at the time revealed another right frontal abnormality. This mass-like lesion was up to 3 cm wide. The T1-weighted images demonstrated almost no pathological signal, whereas the T2weighted images showed high intensity signals corresponding to the malformation. T1-weighted images with gadolinium demonstrated intense enhancement of the lesion (figure 2). Based on the new clinical situation, a new MRI was done which, compared with the previous one, showed the same aspect on the T1 and T2-weighed sequences, associated with a slight increase in the mass volume, and another abnormal pattern in the caudate nucleus (figure 3). On a T2* sequence, the two masses presented low signal intensity (figure 4). A cerebral angiogram failed to show any vascular malformation either at the arterial or at the venous phase (figure 5). The diagnosis of telengiectasia was established on the negativity of the cerebral angiography, the mass-like shape of the lesion, the intense enhancement of the mass after gado327
Giant Intracerebral Telangiectasia in a Case of Blue Rubber-Bleb Nevus Syndrome
J. Sedat
Figure 1 Bluish, compressible, and painless lesion with nipple-like centre (white arrow).
A
B
Figure 2 Brain MR A) Infiltrating mass-like lesion with high signal is shown on the T2-weighed sequence (black arrow). Postsurgical cavity (white arrow). B) T1-weighed images with gadolinium showed intense enhancement.
linium injection and the low signal intensity on the T2* sequence which reflected magnetic susceptibility from elevated intravascular deoxyhemoglobin in a region of stagnant blood flow. No surgical treatment was proposed. Focal neurological symptoms were explained by progressive thrombosis of the vessels inside the malformation, so an antiplatelet therapy was instituted. 328
Discussion Blue Rubber-Bleb Nevus syndrome or Bean’s syndrome 1 is a rare congenital disorder of unknown aetiology, which features characteristic multiples vascular gastrointestinal and skin malformations. Skin lesions have a cyanotic, bluish appearance with a soft, elevated, nipplelike centre 2. They may be found anywhere on
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The Neuroradiology Journal 21: 327-330, 2008
Figure 3 Brain MRI T2-weighed and T1-weighed images with gadolinium demonstrated a slight increasing of the mass and another lesion in the caudate nucleus (black arrow).
Figure 4 T2* sequence: the lesion presents low signal intensity due to the magnetic susceptibility of the intravascular deoxyhemoglobin in a vascular malformation with stagnant blood flow.
A
B
Figure 5 The lesion is not visible following angiography (cerebral angiogram at the arterial (A) and venous (B) phases.
the body surface and mucous membranes. GI malformations usually involve the small intestines and easily bleed on trivial injury, causing occult bleeding. BRBNS is in most cases sporadic but some familial cases have been described in the literature and associated with to autosomal transmission 3. Although most cases are restricted to the skin and GI tract, vascular malformations may be present in other or-
gans such as thyroid, heart, lung, pericardium, pleura and lungs, peritoneum, and suprarenal glands 4,5,6. These lesions, often described as haemangioma, are veins or capillaries malformation 7,8 and their misinterpretation 9,10,20 has often induced a wrong final diagnosis. For this reason, some authors proposed the definition “Blue Rubber Bleb Venous Malformation Syndrome” for this disorder 8. 329
Giant Intracerebral Telangiectasia in a Case of Blue Rubber-Bleb Nevus Syndrome
Brain localizations are particularly rare, sometime presenting as non specific intracerebral vascular abnormalities such as arteriovenous dural fistulae, malformation of the vein of Galen, sinus pericranii or developmental arteriovenous malformations 9,10,11,12,13,14,15. Usually asymptomatic, the clinical presentation in case of involvement of the CNS is not specific and may involve seizures 16, delayed development 17, cognitive impairment up to dementia 18, cortical blindness 19, hemiplegia and ataxia 10. From a histological point of view, the cerebral lesions appear to be venous malformations made of a bulk of venous capillaries or post capillary dilated veins, divided by fibrous septa 1,9,10 , similar to the cutaneous lesions. In our case, MRI showed a mass-like appearance with respect of the cortical architecture,
J. Sedat
and intense enhancement of the lesion after injection of gadolinium. This lesion was occult on the angiogram thereby ruling out an arterial or venous malformation. The low signal intensity on the T2* sequence was explained by the presence of elevated intravascular deoxyhemoglobin in a region of stagnant blood flow. The radiological aspect was in favour of a venous capillary malformation corresponding to a huge telengiectasia. Like cutaneous lesions 20 , those limited to the brain tend to close up spontaneously because of in situ thrombosis. According to Waybright et Al these thromboses are responsible for progressive neurological impairment 9,10,20 as in our patient. For this reason we raise the question whether a preventive anticoagulant or antiplatelet treatment could be proposed to these patients.
References 1 Bean WB: Vascular spiders and related lesions of the skin. In C.C Thomas (ed), Springfield, Illinois 1958. 2 Bean WB: Rare diseases and lesions. C.C Thomas (ed), Springfield, Illinois 1967. 3 Boon LM, Mulliken JB: Assignment of a locus for dominantly inherited venous malformations to chromosome 9p. Hum Mol Genet 3: 1583-1587, 1994. 4 Paller AS: Vascular Disorders. Dermatologic Clinics 5: 239-250, 1987. 5 Rodrigues D, Bourroul ML, Ferrer AP: Blue rubber bleb nevus syndrome. Rev Hosp Clin Fac 55: 29-34, 2000. 6. Moodley M, Ramdial P: Blue rubber bleb nevus syndrome: case report and review of literature. Pediatrics 92:160-162,1993. 7 Kassarjian A, Fishman SJ, Fox VL et Al: Imaging characteristics of Blue Rubber Bleb Nevus Syndrome. AJR 181: 1041-1048, 2003. 8 Nahm WK, Moise S, Eichenfield LF et Al: Venous malformations in blue rubber bleb nevus syndrome : variable onset of presentation. J Am Acad Dermatol 50: 101-6, 2004. 9 Rosenblum WI, Nakoneczna I, Konerding HS: Multiple vascular malformation in the ‘blue rubber bleb naevus’ syndrome: a case with aneurysm of Galen and vascular lesions suggesting a link to the Weber-Osler-Rendu syndrome. Histopathology 2: 301-311, 1978. 10 Waybright EA, Selhorst JB, Rosenblum WI et Al: Blue rubber bleb syndrome with CNS involvement and thrombosis of a vein of Galen malformation. Ann Neurol 3: 464-467, 1978. 11 Carvalho S, Barbosa V, Santos N et Al: Blue rubberbleb syndrome: report of a familial case with a dural arteriovenous fistula. Am J Neuroradiol 24: 1916-1918, 2003. 12 Sherry RG, Walker ML, Olds MV: Sinus pericranii and venous angioma in the blue-rubber bleb nevus syndrome. AJNR Am J Neuroradiol 5: 832-834, 1984. 13 Gabikian P, Clatterbuck RE, Gailloud P et Al: Developmental venous anomalies and sinus pericranii in the blue rubber-bleb nevus syndrome. Case report. J Neurosurg 99: 409-411, 2003.
330
14 Branch CE, Kunath AM, Buscemi JH: Sublingual venous angioma. Marker of intracranial lesion? Arch Neurol 38: 259-260, 1981. 15 Chung JI, Alvarez H, Lasjaunias P: Multifocal cerebral venous malformations and associated developmental venous anomalies in a case of blue rubber bleb nevus syndrome. Interventional Neuroradiology 9: 169-176, 2003. 16 Kim SJ: Blue rubber bleb nevus syndrome with central nervous system involvement. Pediatr Neurol 22: 410412, 2000. 17 Park CO, Park J, Chung KY: Blue rubber bleb nevus syndrome with central nervous system involvement. Journal of Dermatology 33: 649-651, 2006. 18 Hashimoto Y, Eto K, Uyama E et Al: Blue rubber bleb nevus syndrome presented vascular dementia and chronic DIC- a case report. Rinsho Shinkeigaku 29: 202-208, 1989. 19 Shannon J, Auld J: Blue rubber bleb nevus syndrome associated with cortical blindness. Australasian Journal of Dermatology 46: 192-195, 2005. 20 Fretzin DF, Potter B: Blue rubber bleb nevus. Arch Intern Med 116: 924-9, 1965.
Dr Jacques Sedat Neuroradiology Department Hôpital St Roch, CHU NICE 5 Rue Pierre Devoluy 06000 Nice, France Tel.: 0660861967 E-mail: [email protected]
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Giant Intracerebral Telangiectasia in a Case of Blue Rubber-Bleb Nevus Syndrome J. SEDAT, Y. CHAU, M. POPOLO, M. LONJON Neuroradiology Department, Hôpital St Roch, CHU NICE; Nice, France
Key words: cerebral venous malformation, blue rubber bleb nevus syndrome
SUMMARY – Blue rubber-bleb nevus syndrome is a rare condition that consists of multiple venous malformations involving several organ systems, mainly the skin and gastrointestinal tract. Involvement of the central nervous system is particularly rare. We describe a patient with a huge intracerebral telengiectasia revealed by a progressive neurological deficit.
Introduction Blue rubber-bleb nevus syndrome (BRBNS) consists of venous malformations of the skin and viscera, predominantly in the gastrointestinal tract, but potentially involving all organs. Nevertheless, central nervous system (CNS) involvement is very rare. Although they have often been mislabelled, presented in the literature as vascular malformations, hemangiomas, or angiomatosis, the CNS lesions of BRBNS also correspond to venous malformations which share the same histopathologic and etiologic characteristics as the cutaneous lesions. Case Report A 54-year-old man with a confirmed diagnosis of BRBNS was referred for neurological consultation. For two years the patient had complained of an isolated progressive weakness of the right upper limb, without any other symptom. Clinical neurological evaluation showed an isolated motor deficit of the right arm; total body examination demonstrated multiple bluish masses on the trunk, forearms, scalp, and tongue (figure 1). These masses were painless, soft and compressible. BRBNS had been diagnosed when the patient was 40 years old based on distinctive visual appearance and histological features of cutaneous lesions. At the age of 42, the patient had been
hospitalized for an intracranial right frontal haematoma due to the rupture of a right frontal and medial arteriovenous malformation. The patient had been treated surgically and discharged without any residual neurological symptom. At the age of 52, the patient was again admitted to the hospital with partial seizures. In addition to the postoperative cavity, the cerebral MRI done at the time revealed another right frontal abnormality. This mass-like lesion was up to 3 cm wide. The T1-weighted images demonstrated almost no pathological signal, whereas the T2weighted images showed high intensity signals corresponding to the malformation. T1-weighted images with gadolinium demonstrated intense enhancement of the lesion (figure 2). Based on the new clinical situation, a new MRI was done which, compared with the previous one, showed the same aspect on the T1 and T2-weighed sequences, associated with a slight increase in the mass volume, and another abnormal pattern in the caudate nucleus (figure 3). On a T2* sequence, the two masses presented low signal intensity (figure 4). A cerebral angiogram failed to show any vascular malformation either at the arterial or at the venous phase (figure 5). The diagnosis of telengiectasia was established on the negativity of the cerebral angiography, the mass-like shape of the lesion, the intense enhancement of the mass after gado327
Giant Intracerebral Telangiectasia in a Case of Blue Rubber-Bleb Nevus Syndrome
J. Sedat
Figure 1 Bluish, compressible, and painless lesion with nipple-like centre (white arrow).
A
B
Figure 2 Brain MR A) Infiltrating mass-like lesion with high signal is shown on the T2-weighed sequence (black arrow). Postsurgical cavity (white arrow). B) T1-weighed images with gadolinium showed intense enhancement.
linium injection and the low signal intensity on the T2* sequence which reflected magnetic susceptibility from elevated intravascular deoxyhemoglobin in a region of stagnant blood flow. No surgical treatment was proposed. Focal neurological symptoms were explained by progressive thrombosis of the vessels inside the malformation, so an antiplatelet therapy was instituted. 328
Discussion Blue Rubber-Bleb Nevus syndrome or Bean’s syndrome 1 is a rare congenital disorder of unknown aetiology, which features characteristic multiples vascular gastrointestinal and skin malformations. Skin lesions have a cyanotic, bluish appearance with a soft, elevated, nipplelike centre 2. They may be found anywhere on
www. centauro. it
The Neuroradiology Journal 21: 327-330, 2008
Figure 3 Brain MRI T2-weighed and T1-weighed images with gadolinium demonstrated a slight increasing of the mass and another lesion in the caudate nucleus (black arrow).
Figure 4 T2* sequence: the lesion presents low signal intensity due to the magnetic susceptibility of the intravascular deoxyhemoglobin in a vascular malformation with stagnant blood flow.
A
B
Figure 5 The lesion is not visible following angiography (cerebral angiogram at the arterial (A) and venous (B) phases.
the body surface and mucous membranes. GI malformations usually involve the small intestines and easily bleed on trivial injury, causing occult bleeding. BRBNS is in most cases sporadic but some familial cases have been described in the literature and associated with to autosomal transmission 3. Although most cases are restricted to the skin and GI tract, vascular malformations may be present in other or-
gans such as thyroid, heart, lung, pericardium, pleura and lungs, peritoneum, and suprarenal glands 4,5,6. These lesions, often described as haemangioma, are veins or capillaries malformation 7,8 and their misinterpretation 9,10,20 has often induced a wrong final diagnosis. For this reason, some authors proposed the definition “Blue Rubber Bleb Venous Malformation Syndrome” for this disorder 8. 329
Giant Intracerebral Telangiectasia in a Case of Blue Rubber-Bleb Nevus Syndrome
Brain localizations are particularly rare, sometime presenting as non specific intracerebral vascular abnormalities such as arteriovenous dural fistulae, malformation of the vein of Galen, sinus pericranii or developmental arteriovenous malformations 9,10,11,12,13,14,15. Usually asymptomatic, the clinical presentation in case of involvement of the CNS is not specific and may involve seizures 16, delayed development 17, cognitive impairment up to dementia 18, cortical blindness 19, hemiplegia and ataxia 10. From a histological point of view, the cerebral lesions appear to be venous malformations made of a bulk of venous capillaries or post capillary dilated veins, divided by fibrous septa 1,9,10 , similar to the cutaneous lesions. In our case, MRI showed a mass-like appearance with respect of the cortical architecture,
J. Sedat
and intense enhancement of the lesion after injection of gadolinium. This lesion was occult on the angiogram thereby ruling out an arterial or venous malformation. The low signal intensity on the T2* sequence was explained by the presence of elevated intravascular deoxyhemoglobin in a region of stagnant blood flow. The radiological aspect was in favour of a venous capillary malformation corresponding to a huge telengiectasia. Like cutaneous lesions 20 , those limited to the brain tend to close up spontaneously because of in situ thrombosis. According to Waybright et Al these thromboses are responsible for progressive neurological impairment 9,10,20 as in our patient. For this reason we raise the question whether a preventive anticoagulant or antiplatelet treatment could be proposed to these patients.
References 1 Bean WB: Vascular spiders and related lesions of the skin. In C.C Thomas (ed), Springfield, Illinois 1958. 2 Bean WB: Rare diseases and lesions. C.C Thomas (ed), Springfield, Illinois 1967. 3 Boon LM, Mulliken JB: Assignment of a locus for dominantly inherited venous malformations to chromosome 9p. Hum Mol Genet 3: 1583-1587, 1994. 4 Paller AS: Vascular Disorders. Dermatologic Clinics 5: 239-250, 1987. 5 Rodrigues D, Bourroul ML, Ferrer AP: Blue rubber bleb nevus syndrome. Rev Hosp Clin Fac 55: 29-34, 2000. 6. Moodley M, Ramdial P: Blue rubber bleb nevus syndrome: case report and review of literature. Pediatrics 92:160-162,1993. 7 Kassarjian A, Fishman SJ, Fox VL et Al: Imaging characteristics of Blue Rubber Bleb Nevus Syndrome. AJR 181: 1041-1048, 2003. 8 Nahm WK, Moise S, Eichenfield LF et Al: Venous malformations in blue rubber bleb nevus syndrome : variable onset of presentation. J Am Acad Dermatol 50: 101-6, 2004. 9 Rosenblum WI, Nakoneczna I, Konerding HS: Multiple vascular malformation in the ‘blue rubber bleb naevus’ syndrome: a case with aneurysm of Galen and vascular lesions suggesting a link to the Weber-Osler-Rendu syndrome. Histopathology 2: 301-311, 1978. 10 Waybright EA, Selhorst JB, Rosenblum WI et Al: Blue rubber bleb syndrome with CNS involvement and thrombosis of a vein of Galen malformation. Ann Neurol 3: 464-467, 1978. 11 Carvalho S, Barbosa V, Santos N et Al: Blue rubberbleb syndrome: report of a familial case with a dural arteriovenous fistula. Am J Neuroradiol 24: 1916-1918, 2003. 12 Sherry RG, Walker ML, Olds MV: Sinus pericranii and venous angioma in the blue-rubber bleb nevus syndrome. AJNR Am J Neuroradiol 5: 832-834, 1984. 13 Gabikian P, Clatterbuck RE, Gailloud P et Al: Developmental venous anomalies and sinus pericranii in the blue rubber-bleb nevus syndrome. Case report. J Neurosurg 99: 409-411, 2003.
330
14 Branch CE, Kunath AM, Buscemi JH: Sublingual venous angioma. Marker of intracranial lesion? Arch Neurol 38: 259-260, 1981. 15 Chung JI, Alvarez H, Lasjaunias P: Multifocal cerebral venous malformations and associated developmental venous anomalies in a case of blue rubber bleb nevus syndrome. Interventional Neuroradiology 9: 169-176, 2003. 16 Kim SJ: Blue rubber bleb nevus syndrome with central nervous system involvement. Pediatr Neurol 22: 410412, 2000. 17 Park CO, Park J, Chung KY: Blue rubber bleb nevus syndrome with central nervous system involvement. Journal of Dermatology 33: 649-651, 2006. 18 Hashimoto Y, Eto K, Uyama E et Al: Blue rubber bleb nevus syndrome presented vascular dementia and chronic DIC- a case report. Rinsho Shinkeigaku 29: 202-208, 1989. 19 Shannon J, Auld J: Blue rubber bleb nevus syndrome associated with cortical blindness. Australasian Journal of Dermatology 46: 192-195, 2005. 20 Fretzin DF, Potter B: Blue rubber bleb nevus. Arch Intern Med 116: 924-9, 1965.
Dr Jacques Sedat Neuroradiology Department Hôpital St Roch, CHU NICE 5 Rue Pierre Devoluy 06000 Nice, France Tel.: 0660861967 E-mail: [email protected]
