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Show Journal of Neuro- Ophlhalmology 20( 1): 28- 31, 2000. < 2000 Lippincott Williams & Wilkins, Inc., Philadelphia Bilateral Optic Neuropathy Associated With Diffuse Cerebral Angiomatosis in Sturge- Weber Syndrome to to J Srinivas R. Sadda, MD, Neil R. Miller, MD, Rafael Tamargo, MD, and Robert Wityk, MD Visual loss in patients with encephalotrigeminal angiomatosis or Sturge- Weber syndrome usually results from secondary glaucoma or from damage to the retrogeniculate pathways by the angiomatous lesions. Optic neuropathy has not been reported as a component of this syndrome. This report describes a patient who developed bilateral optic neuropathy with progressive visual loss associated with diffuse cerebral angiomatosis in the setting of Sturge- Weber syndrome. Key Words: Angiomatosis- Magnetic resonance imaging- Optic neuropathy- Sturge- Weber syndrome- Visual loss. Encephalotrigeminal angiomatosis, or Sturge- Weber syndrome ( SWS), is a phakomatosis characterized by a vascular malformation that can affect the brain, eyes, and soft tissues of the face and head in the distribution of the trigeminal nerve. The syndrome was first described by Schirmer ( 1) in 1860, and later by Sturge ( 2) in 1879. The disease is believed to be sporadic, although rare familial cases have been reported ( 3,4). The angiomatous lesions are histologically of the cavernous type, characterized by numerous thin- walled vessels measuring 50 to 300 mm in diameter ( 5- 8). Occlusion or maldevelop-ment of the cerebral venous drainage system during the prenatal period has been suggested as a possible pathogenetic mechanism for the development of these lesions ( 9,10). Sturge- Weber syndrome is a clinical diagnosis based on the association of a facial cutaneous hemangioma (" nevus flammeus" or " port- wine stain") with neurologic features ( seizures, hemiparesis, hemianopia) involving the ipsilateral cerebral hemisphere ( 4). Other clinical features that may be present include mental retardation and glaucoma ( 11). Neuroimaging studies including standard computed tomography ( 12), magnetic resonance imaging ( MRI) ( 13), and perfusion- based single- photon emission Manuscript received September 30, 1999; accepted; November 3, 1999. From the Wilmer Ophthalmological Institute ( SRS, NRM), the Departments of Neurosurgery ( NRM, RT) and Neurology ( NRM, RW), The Johns Hopkins Medical Institutions, Baltimore, Maryland. Address correspondence to Neil R. Miller, MD, Department of Ophthalmology, Wilmer Ophthalmological Institute, Johns Hopkins Hospital, Maumanee B- 109, 600 North Wolfe Street, Baltimore, MD 21287. computed tomography ( 14) have been used to confirm the diagnosis and assess the extent of the disease ( 4,8). By definition, the brain is affected in 100% of patients ( 8). The angiomatous lesions typically involve the meninges, although they can penetrate into the parenchyma for short distances ( 5). The meningeal lesions frequently impair cerebral venous drainage, leading to venous hypertension and consequent cortical atrophy and dystrophic calcium deposits. Gyriform calcification (" tram-track" sign) is a radiographic hallmark in these patients and is present in up to 80% of patients ( 4,12). Central nervous system involvement is usually unilateral but is bilateral in up to 15% of patients ( 15). The occipital lobe is most commonly involved, followed by the temporal and parietal lobes ( 16). Consequent homonymous visual field defects are not uncommon. Seizures ( 80%) ( 17) and mental retardation ( 58%) ( 17) are also common features of this syndrome. Cutaneous cavernous hemangiomas occur on the same side as the meningeal lesions and usually follow the distribution of the trigeminal nerve ( 11). These lesions can also occur in extracranial locations, including the torso or extremities ( 17), in addition to or instead of the face. The eyes are frequently involved in patients with SWS. Choroidal cavernous hemangiomas are found in up to 50% of patients and are most commonly of the diffuse type ( 18). Localized hemangiomas may be associated with an overlying serous retinal detachment resulting in visual loss ( 15). Dilated, tortuous conjunctival and episcleral vessels also may develop in these patients. Elevated episcleral venous pressure may produce a rise in intraocular pressure ( 19) and result in a secondary glaucoma in 48% of patients ( 17). Visual loss from nonglaucomatous optic nerve damage has not been previously reported in patients with SWS. In this report, we describe a patient with SWS and diffuse cerebral angiomatosis, who developed a bilateral optic neuropathy from angiomatous involvement of the optic nerves. CASE REPORT A 34- year- old right- handed white woman was healthy until age 6 years, when she developed left facial weak- 28 OPTIC NEUROPATHY IN STURGE- WEBER SYNDROME 29 \ on I3S/- T 22S\ r - v\ V1114 O 1 xf /^ V4 / / 3 tS FIG. 1. Kinetic perimetry ( Goldmann perimeter). A: Right eye. B: Left eye. Marked constriction of the visual fields is evident in both eyes ( left more than right). ness. A neurologic evaluation at this time showed, in addition to the facial weakness, mild left upper and lower extremity weakness, decreased left facial sensation, abnormal palatal movements, and a variable nystagmus. A small cavernous hemangioma was also noted on the right forehead and upper eyelid, and a diagnosis of possible SWS was made. Results of ophthalmologic examination were reportedly normal, with the exception of the nystagmus. A cerebral angiogram showed abnormalities in both the vertebrobasilar and carotid systems, with markedly abnormal vessels over the right frontal and parietal regions, and ventriculography showed a mass in the right frontal region, as well as a left- sided brain stem mass. A right frontal craniotomy was performed for a biopsy of the right frontal mass. Intraoperative examination of the exposed brain showed a purple- colored cortex with numerous, fine, tortuous vessels on the surface; the appearance was consistent with a vascular malformation. Two small ( 0.3 mm and 0.5 mm in maximum diameter) biopsy specimens were taken from this abnormal region. Microscopic examination disclosed numerous, markedly dilated, thin- walled vascular channels filled with erythrocytes. Cortical tissue and cells were interspersed between the angiomatous lesions. Focal calcifications were also present. The appearance of the lesion was believed to be consistent with SWS. The biopsy specimens and microscopic slides were subsequently discarded and thus are not available for illustration. No further treatment was recommended, and the patient was followed- up at regular intervals. She was able to complete high school, but she then experienced progressive difficulty walking and was found to have significant cerebellar ataxia. At age 21 years, the patient experienced a generalized tonic- clonic seizure and was placed on carbamazepine ( Tegretol; Novartis, Summit, NJ) with good control of seizure activity. However, she continued to have progressive difficulty walking and became wheelchair- bound by age 32 years. The patient also had ophthalmic examinations on a regular basis. At age 13 years, her ophthalmologist measured a visual acuity of 20/ 30 OD and 20/ 50 OS, with normal- appearing fundi. By age 21, the vision had declined to the 20/ 80 to 20/ 100 range OU, and some mild pallor of both optic nerves was now observed. The vision was then stable for several years, but beginning at age 32 years, the patient experienced further visual loss, with vision declining to 20/ 200 OD and count fingers at 3 feet OS by age 34 years. At this point, the patient was referred to the Neuro- Ophthalmology Unit of the Johns Hopkins Hospital for further evaluation. On our examination, visual acuity with correction was 20/ 100 OD and count fingers at 1 foot OS. Near vision was Jaeger 10 OD and nil OS. The patient could correctly identify 4Vi of 10 Hardy- Rand- Rittler color plates OD but could only identify gross colors OS. Kinetic perimetry ( Fig. 1) showed marked constriction of the visual fields OU ( OS > OD). Static perimetry was performed, but the results were considered unreliable because of the patient's poor fixation. Both pupils were equal in size and reactive to light and near stimulation, but there was a left relative afferent pupillary defect. Ocular motility examination disclosed mild limitation of adduction of the right eye and marked limitation of abduction of the left eye, neither of which could be improved by a doll's head maneuver. In primary position, the patient had an esotropia of 90 prism diopters. In addition, in all positions of gaze, both eyes showed dysconjugate rhythmic movements with horizontal, vertical, and elliptical components. These ocular oscillations were synchronous with movements of the palate ( left side of palate > right side). There was marked weakness of the entire left side of the face, and the patient was unable to close the left eye completely. Corneal and facial sensation were normal on the right; they were di- FIG. 2. Facial nevus flameus of the right forehead. Nevus flameus also involved the right upper eyelid and right bridge of the nose ( not shown). J Neuw- Ophihalmol, Vol. 20, No. 1, 2000 JO S. R. SADDA ET AL. FIG. 3. Appearance of optic disks. Both disks show diffuse pallor, and there is extensive loss of the nerve fiber layer. Image quality is limited by motion artifact caused by ocular myoclonus. A: Right eye. B: Left eye. minished but present on the left. A cavernous hemangioma was present over the right forehead, right upper eyelid, and right bridge of the nose ( Fig. 2). Slit- lamp biomicroscopy showed clear anterior segments except for a few inferior punctate epithelial erosions of the left cornea. Intraocular pressures were 16 OU by applanation tonometry. Ophthalmoscopy showed diffuse optic atrophy bilaterally ( Fig. 3). The remainder of the fundi were normal, with no retinal or choroidal angiomas being present. Standard MRI and MR angiography of the brain showed variably sized vessels with a heterogeneous signal intensity diffusely occupying the right frontal-parietal region, the right cerebellar hemisphere, and both sides of the brain stem ( Fig. 4). Similar lesions also appeared to infiltrate or compress both optic nerves ( Fig. 5). Many of the lesions had a speckled appearance consistent with calcification. Repeat brain biopsy of the right frontal lobe cortex was performed using a right frontal craniotomy approach. Biopsy showed numerous hyalinized thin- walled vessels with intervening gliotic tissue ( Fig. 6). Intervening brain tissue was also evident in some areas. Multiple foci of calcification were present. The appearance is compatible with the vascular malformation present in patients with SWS. CONCLUSION This report describes a patient with biopsy- proven SWS and diffuse cerebral angiomatosis causing multiple neurologic deficits. These deficits include severe ataxia, a mild left infranuclear horizontal gaze palsy, a left ab-ducens nerve palsy, oculopalatal myoclonus, a left facial nerve palsy, and a left trigeminal sensory neuropathy. These findings can be explained by the extensive involvement of the right cerebral hemisphere, the brain stem, and the right side of the cerebellum of this patient by the angiomatous process. The angiomatous malformation involved not only the meninges, but also much of the parenchyma of this patient's brain. Such extensive involvement of the brain parenchyma is unusual in SWS ( 5,7). Diffuse cerebral angiomatosis has also been reported in the rare syndromes of Divry- Van Bogaert ( 20) and Sneddon ( 21). The vascular malformations in patients with these syndromes, however, unlike in SWS, are typically noncalcified. In addition, the presence of livedo reticularis, a purplish skin discoloration caused by capillary and venular dilation, assists in differentiating these cerebral angiomatoses from SWS. In our opinion, the presence of calcification in the leptomeningeal and parenchymal vascular lesions, associated with a cutaneous cavernous hemangioma in the distribution of the first division of the trigeminal nerve, confirms the diagnosis of SWS in our patient. The cavernous vascular lesions noted on brain biopsy lend further support to this diagnosis. The patient described in this report is unique not only because of her extensive cerebral angiomatosis, but also because of her bilateral optic atrophy. Although hydrocephalus cannot be ruled out as a potential contributing factor to the optic nerve damage in this patient, the MRI scan suggests direct infiltration or compression of the optic nerves by the angiomatous lesions. Whereas optic FIG. 4. MRI of brain; T2- weighted, axial views. Image quality limited by patient motion artifact. A: Diffuse angiomatous involvement of right frontoparietal lobe. B: Angiomatous involvement of brain stem and right cerebellum. J Neuro- Ophthalmol, Vol 20, No. 1, 2000 OPTIC NEUROPATHY IN STURGE- WEBER SYNDROME 31 FIG. 5. MRI of brain and optic nerves; T1- weighted, post-gadolinium, coronal section. Tne right optic nerve is mildly enlarged and hyperintense. It appears to be compressed by the angiomatous lesion in the right frontal lobe. The left optic nerve is markedly enlarged and hyperintense, consistent with infiltration by the angiomatous process. nerve damage from glaucoma is well described in patients with SWS ( 17,19), nonglaucomatous optic neuropathy has not been previously reported. The involvement of the optic nerves in this patient may reflect the diffuse and severe extent of the angiomatous lesions. FIG. 6. Right frontal cortex biopsy. Lesion is predominantly composed of numerous thin- walled hyalinized vessels with intervening gliotic tissue. In a few areas, brain parenchyma (*) is visible. Numerous foci of calcification are present ( arrows). ( Hematoxylin and eosin; original magnification x240.) In summary, the optic nerves may be involved by the angiomatous malformation that develops in patients with SWS. Although this finding is infrequent, it should be considered in the differential diagnosis of visual loss in patients with this disease. REFERENCES 1. Schirmer, R. Ein fall von teleangiektasie. Graefes Arch Ophthalmol 1860; 7: 119- 21. 2. Sturge WA. A case of partial epilepsy, apparently due to a lesion of one of the vaso- motor centres of the brain. Trans Clin Soc London 1879; 12: 162- 7. 3. Debicka A, Adamczak P. Przypadek dziedziczenia zespolu Sturge a- Webera. Klin Oczna. 1979; 81: 541- 2. 4. Griffiths PD. Sturge- Weber syndrome revisited: the role of neuroradiology. Neuropediatrics 1996; 27: 284- 94. 5. 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