- Email: [email protected]
Sturge-Weber Syndrome: Deep Venous Occlusion and the Radiologic Spectrum
Case Reports
Sturge-Weber Syndrome: Deep Venous Occlusion and the Radiologic Spectrum Shira E. Slasky, MD*, Shlomo Shinnar, MD, PhD†, and Jacqueline A. Bello, MD* Sturge-Weber syndrome is a neurocutaneous syndrome with a facial port-wine nevus and neurologic features, typically including seizures and hemiparesis. Glaucoma may also occur. MRI features include leptomeningeal angiomatosis, cortical and pial calcifications, and angiomatous change of the choroid plexus. We reviewed a subset of patients with Sturge-Weber syndrome with the rare finding of deep venous occlusion, and present such a case, unusual by comparison to previously reported cases of Sturge-Weber syndrome with deep venous occlusion. Six previously reported cases were reviewed. All cases presented with seizures; five of six had evidence of leptomeningeal angiomatosis; half had cerebral hemiatrophy. This report presents a unique case lacking clinical seizures, but with a port-wine stain and congenital glaucoma. This patient lacked the radiologic findings of leptomeningeal angiomatosis and hemicerebral atrophy, but demonstrated deep venous occlusion with frontal venous collaterals. There is a wide spectrum of findings in Sturge-Weber syndrome. The lack of seizures and angiomatosis in this case are likely “true-true” and related. The case illustrates the unusual finding of deep venous occlusion in Sturge-Weber syndrome occurring without leptomeningeal angiomatosis. Additionally, it demonstrates that although the initial evaluation is normal, patients may later manifest clinical characteristics of Sturge-Weber syndrome. © 2006 by Elsevier Inc. All rights reserved.
From *Department of Radiology and †Departments of Neurology and Pediatrics, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, New York.
© 2006 by Elsevier Inc. All rights reserved. doi:10.1016/j.pediatrneurol.2006.06.012 ● 0887-8994/06/$—see front matter
Slasky SE, Shinnar S, Bello JA. Sturge-Weber syndrome: Deep venous occlusion and the radiologic spectrum. Pediatr Neurol 2006;35:343-347.
Introduction Sturge-Weber syndrome is a sporadic neurocutaneous syndrome characterized by a flat capillary facial angioma (port-wine nevus) in the upper facial region. Ipsilateral intracranial leptomeningeal angiomatosis usually occurs when brain involvement is unilateral [1]. The leptomeningeal angiomatosis may be bihemispheric whether or not the nevus is also bilateral. Conversely, when the facial nevus is bilateral, the leptomeningeal involvement may be unihemispheric or bihemispheric [2]. The clinical features vary widely. Neurologic symptoms commonly include epileptic seizures, hemiparesis, and intellectual impairment. Glaucoma is also a common manifestation [3]. Milder forms of the syndrome may include only the facial port-wine stain and seizures, with no ocular involvement and no other neurologic dysfunction. Severe forms of the syndrome may include progressive cognitive and neurologic deficits, and intractable seizures [3-5]. Magnetic resonance imaging with gadolinium is currently the imaging modality of choice in evaluating Sturge-Weber syndrome. Typically, there is leptomeningeal enhancement paralleling the distribution of the leptomeningeal angiomatosis [6]. Characteristically, this cerebral involvement is occipital and ipsilateral to the facial angioma. Other areas of involvement include the temporal, parietal, and frontal regions in order of decreasing frequency [7]. Parenchymal calcification usually occurs in the brain underlying the leptomeningeal angiomatosis, but is not always present. In a study of 14 patients ranging in age from 4 months to 16 years, 86% had parenchymal calcifications [8]. Parenchymal calcifications, however, may progress over time and can be minimal or absent in neonates and infants [9]. Choroid plexus enlargement often occurs ipsilateral to the leptomeningeal angiomatosis, and may be due to an angiomatous anomaly of the plexus itself. Alterations in white matter signal on T2weighted images are also common. Areas of hyperinten-
Communications should be addressed to: Dr. Slasky; Department of Radiology; Montefiore Medical Center; 111 East 210th Street; Bronx, NY 10467. E-mail: [email protected] Received February 23, 2006; accepted June 5, 2006.
Slasky et al: Sturge-Weber Syndrome 343
Figure 1. (A) Axial fast spin echo T2-weighted (TR/TE ⫽ 4467/97 ms) magnetic resonance imaging of the brain at age 2.5 years demonstrates a curvilinear flow related signal void in the left frontal lobe consistent with an abnormal draining vein. (B) Coronal postgadolinium T1-weighted (TR/TE ⫽ 167/21 ms) magnetic resonance imaging of the brain at age 2.5 years demonstrates an enhancing abnormal vein in the left frontal lobe. (C) Initial axial fast spin echo T1-weighted (TR/TE ⫽ 567/8 ms) noncontrast magnetic resonance imaging of the brain at age 10 months demonstrates subtle low signal curvilinear structure in the left frontal lobe consistent with the abnormal draining vein.
sity have been ascribed to gliosis and demyelination, whereas areas of hypointensity have been ascribed to accelerated myelination caused by ischemia [10]. Ipsilateral cerebral atrophy is frequent in Sturge-Weber syndrome. With significant atrophy, there may be hypertrophy of the cranium on the side of the vascular malformation [6]. Historically, angiography has demonstrated an overall lack of superficial cortical veins, nonfilling of the superior sagittal sinus, as well as dilatation and tortuosity of the deep veins including the internal cerebral vein and basal vein of Rosenthal. These enlarged veins are fed by numerous prominent medullary veins. This pattern of venous drainage is likely due to nonfunction or absence of
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the cortical veins beneath the leptomeningeal angiomas, with collateral flow centrally to the deep veins [8,11,12]. Angiography is no longer used to visualize the vascular anatomy because the anomalies can be observed as clearly and noninvasively with magnetic resonance imaging [9]. Magnetic resonance and computed tomography have also demonstrated prominence of the deep venous system [3]. This report presents a case of Sturge-Weber syndrome with cerebral deep venous occlusion demonstrated by magnetic resonance imaging. Deep venous occlusion is a rare finding in Sturge-Weber syndrome [9,11-14]. The presented case has unusual clinical and imaging features compared with previously reported cases of patients with venous occlusion.
Case Report A 3-month-old female was examined in the pediatric neurology department and was observed to have a congenital facial port-wine stain involving the left side of the forehead, nose, and left upper eyelid. By history, at birth she had a normal noncontrast computed tomographic scan of the brain at another institution. She had been referred to ophthalmology for diagnosis and treatment of glaucoma. Her neurologic examination at that time was entirely normal. There was no history of seizures. A noncontrast magnetic resonance imaging of the brain at age 10 months was interpreted as normal. When the patient was 2 years old, she developed a mild right hemiparesis with decreased motor strength and increased reflexes on the right side. The patient had no history of seizures to date. Repeat magnetic resonance imaging with gadolinium was obtained at age 2.5 years. This magnetic resonance imaging of the brain demonstrated abnormal tortuous veins in the left frontal lobe initially interpreted as a venous angioma (Fig 1A,B). The left internal cerebral vein was absent (Fig 2). There was no evidence of atrophy. The choroid plexus was bilaterally symmetric. There was no abnormal leptomeningeal enhancement. Retrospective analysis of the initial noncontrast magnetic resonance imaging revealed that the left frontal anomalous draining vein was present (Fig 1C) but less prominent. The patency of the left internal cerebral vein could not be determined on the initial scan because of motion artifact.
Discussion Deep cerebral venous occlusion is a rare finding in Sturge-Weber syndrome. To our knowledge, there are six such cases reported in the literature [11,13-16]. Four of these cases were demonstrated by angiography, before cross-sectional imaging was available [10,13,14]. Table 1 lists the clinical features and neuroradiologic findings described in these six previously reported cases. The present case represents another example of SturgeWeber syndrome with the uncommon finding of deep venous occlusion. However, several features of this case differ from the six previously reported cases. This patient had a milder clinical presentation than the previously reported cases. Initially there was no clear clinical evidence of brain involvement. The onset of the neurologic findings coincided with the detection of radiologic findings. Furthermore, the neurologic and radiologic involvement in the reported case is much less extensive than in most of the previously reported cases. Consistent with the milder clinical involvement, the anatomic involvement is much less extensive. The two previously reported cases with magnetic resonance imaging demonstrated cortical atrophy and parenchymal calcifications. In addition, both had leptomeningeal enhancement ipsilateral to the facial nevi consistent with leptomeningeal angiomatosis as well as hemiatrophy. One had an enlarged choroid plexus [15,16]. Of the four previously reported cases before the availability of magnetic resonance imaging, two displayed unilateral increased radiotracer uptake on nuclear medicine brain scan, suggestive of leptomeningeal involvement [11,14] and one of the two remaining cases had “tram track” calcifications on a plain radiograph of the skull, as well as a paucity of superficial cortical veins demonstrated by angiography [13].
Figure 2. (A) Axial fast spin echo T2-weighted (TR/TE ⫽ 4467/97.2 ms) magnetic resonance imaging of the brain at age 2.5 years demonstrates absence of the left internal cerebral vein. The normal right internal cerebral vein is labeled with an arrow. (B) Coronal postgadolinium T1-weighted (TR/TE 167/21 ms) magnetic resonance imaging of the brain at age 2.5 years demonstrates absence of the left internal cerebral vein. The normal right internal cerebral vein is labeled with an arrow.
The patient reported here does not manifest any abnormal leptomeningeal enhancement, hemiatrophy, or parenchymal cortical calcification. There is no evidence of leptomeningeal or choroid plexus angiomatosis. Despite the clinical features of congenital glaucoma and the port-wine stain, the classic intracranial findings of SturgeWeber syndrome are absent. It is known, however, that parenchymal calcifications may progress over time and can be minimal or absent in neonates and infants [9].
Slasky et al: Sturge-Weber Syndrome 345
Table 1.
Clinical and imaging findings in previously reported Sturge-Weber patients with cerebral deep venous occlusion
Age, Sex
Clinical Features
Conventional Angiographic Findings
MRI Findings
Other Imaging Findings
2-year-old male [11]
Seizures, mental retardation, facial port wine nevus
Left internal cerebral vein not visualized Enlarged left pericallosal vein Enlarged cortical vein penetrating deep into left cerebrum, receiving deep medullary veins
Not available
None
3-year-old female [11]
Seizures, bilateral facial port wine nevi, bilateral glaucoma
Right internal cerebral vein, vein of Galen not visualized Dilated tortuous cortical veins in right sylvian region penetrating deep into right hemisphere
Not available
Nuclear medicine brain scan: increased posterior cortical radiotracer uptake
11-year-old female [13]
Seizures, mild right hemiparesis, right sensory impairment dysphasia, right homonymous hemianopsia
Basal vein of Rosenthal, left internal cerebral vein not opacified Nonvisualization of left parieto-occipital superficial cortical veins Poor opacification of the superior sagittal sinus
Not available
Radiographs of the skull: double contoured calcifications in the region of the left cerebral cortex Small left hemicalvarium
7-year-old female [14]
Seizures, akinesia, profound mental retardation, large left facial portwine nevus
Absent basal vein of Rosenthal and nonfilling of left internal cerebral vein Abnormal cortical venous plexus covering most of left temporal, parietal, and occipital lobes
Not available
99M
4-month-old male [15]
Seizures, right facial port-wine nevus
Poor filling of right deep medullary veins, right internal cerebral vein, inferior sagittal sinus, and parietal cortical veins Leptomeningeal angiomatosis in the right parieto-occipital and posterior temporal regions Hypoplastic right sylvian veins and anterior portion of superior sagittal sinus Poor filling of left cerebellar hemispheric veins Left cerebellar venous angioma
Right parieto-occipital and posterior temporal leptomeningeal enhancement Poor filling of the anterior part of the superior sagittal sinus Venous angioma in left side of the cerebellum
Noncontrast CT: linear sshaped calcification right parietal and posterior temporal regions
8-month-old male [16]
Seizures, left sided glaucoma, bilateral facial port-wine nevi
Not available
Internal cerebral veins not visualized Bilateral cerebral atrophy and leptomeningeal enhancement Left parietal gyral calcifications Bilateral prominent choroid plexus Paucity of right cortical veins
2.5-year-old female [presented patient]
Left facial portwine nevus, congenital glaucoma, mild right hemiparesis
Not available
Absent left internal cerebral vein Abnormal veins in the left frontal lobe
Tc-DTPA brain scan: increased radiotracer uptake over posterior portion of the left cerebral hemisphere
Noncontrast CT at birth: reportedly negative
Abbreviations: CT ⫽ Computed tomography MRI ⫽ Magnetic resonance imaging 99M Tc-DTPA ⫽ Technetium-99m diethylenetriaminepentacetic acid
It has been suggested that the clinical deterioration in Sturge-Weber syndrome may be due to slow venous drainage in the leptomeningeal angiomas causing cerebral venous hypertension. Deep venous occlusion may further exacerbate this problem by rerouting the venous drainage into the overburdened angioma [14]. On the basis of the theory that Sturge-Weber syndrome may be
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caused by recurrent venous thrombotic episodes, it has been postulated that antiplatelet therapy may stabilize neurologic function [17]. Unfortunately, in the case presented here, we were unable to determine whether the left internal cerebral vein was patent on the initial magnetic resonance imaging. It would be interesting to observe whether there was progressive occlusion of the
internal cerebral vein or whether the vein was initially atretic. Conclusion There is clearly a spectrum of findings in Sturge-Weber syndrome. The classic clinical presentation includes a facial port-wine stain, congenital glaucoma, and seizures. Typical radiographic findings include leptomeningeal and choroid plexus angiomatosis, hemiatrophy, and cortical parenchymal calcification ipsilateral to the port-wine stain. Deep venous occlusions occur in a subset of these patients. Six prior reported cases of deep venous occlusion in Sturge-Weber syndrome all had seizures and five of six had evidence of leptomeningeal angiomatosis. Half of them had hemiatrophy. This report describes a unique case of Sturge-Weber syndrome lacking clinical seizures, but with a port-wine stain and congenital glaucoma. The case also lacks the radiologic findings of leptomeningeal angiomatosis and hemicerebral atrophy, but demonstrates deep venous occlusion with frontal venous collaterals. This case illustrates the unusual finding of deep venous occlusion in Sturge-Weber syndrome and demonstrates that it can occur without leptomeningeal angiomatosis. Additionally, it demonstrates that although the initial neurologic examination appears normal, patients may later develop clinical manifestations of the disease. References [1] Marti-Bonmati L, Menor F, Poyatos C, Cortina H. Diagnosis of Sturge-Weber syndrome: Comparison of the efficacy of CT and MR imaging in 14 cases. AJR 1992;158:867-71. [2] Bebin EM, Gomez MR. Prognosis in Sturge-Weber disease: Comparison of unihemispheric and bihemispheric involvement. J Child Neurol 1988;3:181-4.
[3] Roach ES. Neurocutaneous syndromes. Pediatr Clin North Am 1992;39:591-620. [4] Bodensteiner JB, Roach ES. Sturge-Weber syndrome: Introduction and overview. In: Bodensteiner JB, Roach ES, eds. Sturge-Weber syndrome. Mount Freedom, NJ: The Sturge-Weber Foundation, 1999:1-10. [5] Feller L, Lemmer J. Encephalotrigeminal angiomatosis. SADJ 2003;58:370-3. [6] Maria BL, Hoang KBN, Robertson RL, Barnes PD, Drane WE, Chugani HT. Imaging brain structure and function in Sturge-Weber syndrome. In: Bodensteiner JB, Roach ES, eds. Sturge-Weber syndrome. Mount Freedom, NJ: The Sturge-Weber Foundation, 1999:43– 69. [7] Marti-Bonmati L, Menor F, Mulas F. The Sturge-Weber syndrome: Correlation between the clinical status and radiologic CT and MRI findings. Child’s Nerv Syst 1993;9:107-9. [8] Terdjman P, Aicardi J, Sainte-Rose C, Brunelle F. Neuroradiological findings in Sturge-Weber syndrome (SWS) and isolated pial angiomatosis. Neuropediatrics 1990;22:115-20. [9] Thomas-Sohl KA, Vaslow DF, Maria BL. Sturge-Weber syndrome: A review. Pediatr Neurol 2004;30:303-10. [10] Sperner J, Schmauser I, Bittner R, et al. MR-imaging findings in children with Sturge-Weber syndrome. Neuropediatrics 1989;21: 146-52. [11] Bentson JR, Wilson GH, Newton TH. Cerebral venous drainage pattern of the Sturge-Weber syndrome. Radiology 1971;101:111-8. [12] Pascual-Castroviejo I, Diaz-Gonzalez C, Garcia-Melian RM, Gonzalez-Casado I, Munoz-Hiraldo E. Sturge-Weber syndrome: Study of 40 patients. Pediatr Neurol 1993;9:283-8. [13] Sarwar M. Deep venous occlusion in the Sturge-Weber syndrome. Rev Interam Radiol 1977;2:159-61. [14] Probst FP. Vascular morphology and angiographic flow patterns in Sturge-Weber angiomatosis: Facts, thoughts, and suggestions. Neuroradiology 1980;20:73-8. [15] Hamano K, Misako I, Kei I, Tadao N, Takita H. A case of Sturge-Weber syndrome with peculiar venous abnormalities. Child’s Nerv Syst 1993;9:491-3. [16] Cure JK, Holden KR, Van Tassel P. Progressive venous occlusion in a neonate with Sturge-Weber syndrome: Demonstration with MR venography. Am J Neuroradiol 1995;16:1539-42. [17] Garcia JC, Roach ES, McLean WT. Recurrent thrombotic deterioration in the Sturge-Weber syndrome. Child’s Brain 1981;6: 427-33.
Slasky et al: Sturge-Weber Syndrome 347
Sturge-Weber Syndrome: Deep Venous Occlusion and the Radiologic Spectrum Shira E. Slasky, MD*, Shlomo Shinnar, MD, PhD†, and Jacqueline A. Bello, MD* Sturge-Weber syndrome is a neurocutaneous syndrome with a facial port-wine nevus and neurologic features, typically including seizures and hemiparesis. Glaucoma may also occur. MRI features include leptomeningeal angiomatosis, cortical and pial calcifications, and angiomatous change of the choroid plexus. We reviewed a subset of patients with Sturge-Weber syndrome with the rare finding of deep venous occlusion, and present such a case, unusual by comparison to previously reported cases of Sturge-Weber syndrome with deep venous occlusion. Six previously reported cases were reviewed. All cases presented with seizures; five of six had evidence of leptomeningeal angiomatosis; half had cerebral hemiatrophy. This report presents a unique case lacking clinical seizures, but with a port-wine stain and congenital glaucoma. This patient lacked the radiologic findings of leptomeningeal angiomatosis and hemicerebral atrophy, but demonstrated deep venous occlusion with frontal venous collaterals. There is a wide spectrum of findings in Sturge-Weber syndrome. The lack of seizures and angiomatosis in this case are likely “true-true” and related. The case illustrates the unusual finding of deep venous occlusion in Sturge-Weber syndrome occurring without leptomeningeal angiomatosis. Additionally, it demonstrates that although the initial evaluation is normal, patients may later manifest clinical characteristics of Sturge-Weber syndrome. © 2006 by Elsevier Inc. All rights reserved.
From *Department of Radiology and †Departments of Neurology and Pediatrics, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, New York.
© 2006 by Elsevier Inc. All rights reserved. doi:10.1016/j.pediatrneurol.2006.06.012 ● 0887-8994/06/$—see front matter
Slasky SE, Shinnar S, Bello JA. Sturge-Weber syndrome: Deep venous occlusion and the radiologic spectrum. Pediatr Neurol 2006;35:343-347.
Introduction Sturge-Weber syndrome is a sporadic neurocutaneous syndrome characterized by a flat capillary facial angioma (port-wine nevus) in the upper facial region. Ipsilateral intracranial leptomeningeal angiomatosis usually occurs when brain involvement is unilateral [1]. The leptomeningeal angiomatosis may be bihemispheric whether or not the nevus is also bilateral. Conversely, when the facial nevus is bilateral, the leptomeningeal involvement may be unihemispheric or bihemispheric [2]. The clinical features vary widely. Neurologic symptoms commonly include epileptic seizures, hemiparesis, and intellectual impairment. Glaucoma is also a common manifestation [3]. Milder forms of the syndrome may include only the facial port-wine stain and seizures, with no ocular involvement and no other neurologic dysfunction. Severe forms of the syndrome may include progressive cognitive and neurologic deficits, and intractable seizures [3-5]. Magnetic resonance imaging with gadolinium is currently the imaging modality of choice in evaluating Sturge-Weber syndrome. Typically, there is leptomeningeal enhancement paralleling the distribution of the leptomeningeal angiomatosis [6]. Characteristically, this cerebral involvement is occipital and ipsilateral to the facial angioma. Other areas of involvement include the temporal, parietal, and frontal regions in order of decreasing frequency [7]. Parenchymal calcification usually occurs in the brain underlying the leptomeningeal angiomatosis, but is not always present. In a study of 14 patients ranging in age from 4 months to 16 years, 86% had parenchymal calcifications [8]. Parenchymal calcifications, however, may progress over time and can be minimal or absent in neonates and infants [9]. Choroid plexus enlargement often occurs ipsilateral to the leptomeningeal angiomatosis, and may be due to an angiomatous anomaly of the plexus itself. Alterations in white matter signal on T2weighted images are also common. Areas of hyperinten-
Communications should be addressed to: Dr. Slasky; Department of Radiology; Montefiore Medical Center; 111 East 210th Street; Bronx, NY 10467. E-mail: [email protected] Received February 23, 2006; accepted June 5, 2006.
Slasky et al: Sturge-Weber Syndrome 343
Figure 1. (A) Axial fast spin echo T2-weighted (TR/TE ⫽ 4467/97 ms) magnetic resonance imaging of the brain at age 2.5 years demonstrates a curvilinear flow related signal void in the left frontal lobe consistent with an abnormal draining vein. (B) Coronal postgadolinium T1-weighted (TR/TE ⫽ 167/21 ms) magnetic resonance imaging of the brain at age 2.5 years demonstrates an enhancing abnormal vein in the left frontal lobe. (C) Initial axial fast spin echo T1-weighted (TR/TE ⫽ 567/8 ms) noncontrast magnetic resonance imaging of the brain at age 10 months demonstrates subtle low signal curvilinear structure in the left frontal lobe consistent with the abnormal draining vein.
sity have been ascribed to gliosis and demyelination, whereas areas of hypointensity have been ascribed to accelerated myelination caused by ischemia [10]. Ipsilateral cerebral atrophy is frequent in Sturge-Weber syndrome. With significant atrophy, there may be hypertrophy of the cranium on the side of the vascular malformation [6]. Historically, angiography has demonstrated an overall lack of superficial cortical veins, nonfilling of the superior sagittal sinus, as well as dilatation and tortuosity of the deep veins including the internal cerebral vein and basal vein of Rosenthal. These enlarged veins are fed by numerous prominent medullary veins. This pattern of venous drainage is likely due to nonfunction or absence of
344
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the cortical veins beneath the leptomeningeal angiomas, with collateral flow centrally to the deep veins [8,11,12]. Angiography is no longer used to visualize the vascular anatomy because the anomalies can be observed as clearly and noninvasively with magnetic resonance imaging [9]. Magnetic resonance and computed tomography have also demonstrated prominence of the deep venous system [3]. This report presents a case of Sturge-Weber syndrome with cerebral deep venous occlusion demonstrated by magnetic resonance imaging. Deep venous occlusion is a rare finding in Sturge-Weber syndrome [9,11-14]. The presented case has unusual clinical and imaging features compared with previously reported cases of patients with venous occlusion.
Case Report A 3-month-old female was examined in the pediatric neurology department and was observed to have a congenital facial port-wine stain involving the left side of the forehead, nose, and left upper eyelid. By history, at birth she had a normal noncontrast computed tomographic scan of the brain at another institution. She had been referred to ophthalmology for diagnosis and treatment of glaucoma. Her neurologic examination at that time was entirely normal. There was no history of seizures. A noncontrast magnetic resonance imaging of the brain at age 10 months was interpreted as normal. When the patient was 2 years old, she developed a mild right hemiparesis with decreased motor strength and increased reflexes on the right side. The patient had no history of seizures to date. Repeat magnetic resonance imaging with gadolinium was obtained at age 2.5 years. This magnetic resonance imaging of the brain demonstrated abnormal tortuous veins in the left frontal lobe initially interpreted as a venous angioma (Fig 1A,B). The left internal cerebral vein was absent (Fig 2). There was no evidence of atrophy. The choroid plexus was bilaterally symmetric. There was no abnormal leptomeningeal enhancement. Retrospective analysis of the initial noncontrast magnetic resonance imaging revealed that the left frontal anomalous draining vein was present (Fig 1C) but less prominent. The patency of the left internal cerebral vein could not be determined on the initial scan because of motion artifact.
Discussion Deep cerebral venous occlusion is a rare finding in Sturge-Weber syndrome. To our knowledge, there are six such cases reported in the literature [11,13-16]. Four of these cases were demonstrated by angiography, before cross-sectional imaging was available [10,13,14]. Table 1 lists the clinical features and neuroradiologic findings described in these six previously reported cases. The present case represents another example of SturgeWeber syndrome with the uncommon finding of deep venous occlusion. However, several features of this case differ from the six previously reported cases. This patient had a milder clinical presentation than the previously reported cases. Initially there was no clear clinical evidence of brain involvement. The onset of the neurologic findings coincided with the detection of radiologic findings. Furthermore, the neurologic and radiologic involvement in the reported case is much less extensive than in most of the previously reported cases. Consistent with the milder clinical involvement, the anatomic involvement is much less extensive. The two previously reported cases with magnetic resonance imaging demonstrated cortical atrophy and parenchymal calcifications. In addition, both had leptomeningeal enhancement ipsilateral to the facial nevi consistent with leptomeningeal angiomatosis as well as hemiatrophy. One had an enlarged choroid plexus [15,16]. Of the four previously reported cases before the availability of magnetic resonance imaging, two displayed unilateral increased radiotracer uptake on nuclear medicine brain scan, suggestive of leptomeningeal involvement [11,14] and one of the two remaining cases had “tram track” calcifications on a plain radiograph of the skull, as well as a paucity of superficial cortical veins demonstrated by angiography [13].
Figure 2. (A) Axial fast spin echo T2-weighted (TR/TE ⫽ 4467/97.2 ms) magnetic resonance imaging of the brain at age 2.5 years demonstrates absence of the left internal cerebral vein. The normal right internal cerebral vein is labeled with an arrow. (B) Coronal postgadolinium T1-weighted (TR/TE 167/21 ms) magnetic resonance imaging of the brain at age 2.5 years demonstrates absence of the left internal cerebral vein. The normal right internal cerebral vein is labeled with an arrow.
The patient reported here does not manifest any abnormal leptomeningeal enhancement, hemiatrophy, or parenchymal cortical calcification. There is no evidence of leptomeningeal or choroid plexus angiomatosis. Despite the clinical features of congenital glaucoma and the port-wine stain, the classic intracranial findings of SturgeWeber syndrome are absent. It is known, however, that parenchymal calcifications may progress over time and can be minimal or absent in neonates and infants [9].
Slasky et al: Sturge-Weber Syndrome 345
Table 1.
Clinical and imaging findings in previously reported Sturge-Weber patients with cerebral deep venous occlusion
Age, Sex
Clinical Features
Conventional Angiographic Findings
MRI Findings
Other Imaging Findings
2-year-old male [11]
Seizures, mental retardation, facial port wine nevus
Left internal cerebral vein not visualized Enlarged left pericallosal vein Enlarged cortical vein penetrating deep into left cerebrum, receiving deep medullary veins
Not available
None
3-year-old female [11]
Seizures, bilateral facial port wine nevi, bilateral glaucoma
Right internal cerebral vein, vein of Galen not visualized Dilated tortuous cortical veins in right sylvian region penetrating deep into right hemisphere
Not available
Nuclear medicine brain scan: increased posterior cortical radiotracer uptake
11-year-old female [13]
Seizures, mild right hemiparesis, right sensory impairment dysphasia, right homonymous hemianopsia
Basal vein of Rosenthal, left internal cerebral vein not opacified Nonvisualization of left parieto-occipital superficial cortical veins Poor opacification of the superior sagittal sinus
Not available
Radiographs of the skull: double contoured calcifications in the region of the left cerebral cortex Small left hemicalvarium
7-year-old female [14]
Seizures, akinesia, profound mental retardation, large left facial portwine nevus
Absent basal vein of Rosenthal and nonfilling of left internal cerebral vein Abnormal cortical venous plexus covering most of left temporal, parietal, and occipital lobes
Not available
99M
4-month-old male [15]
Seizures, right facial port-wine nevus
Poor filling of right deep medullary veins, right internal cerebral vein, inferior sagittal sinus, and parietal cortical veins Leptomeningeal angiomatosis in the right parieto-occipital and posterior temporal regions Hypoplastic right sylvian veins and anterior portion of superior sagittal sinus Poor filling of left cerebellar hemispheric veins Left cerebellar venous angioma
Right parieto-occipital and posterior temporal leptomeningeal enhancement Poor filling of the anterior part of the superior sagittal sinus Venous angioma in left side of the cerebellum
Noncontrast CT: linear sshaped calcification right parietal and posterior temporal regions
8-month-old male [16]
Seizures, left sided glaucoma, bilateral facial port-wine nevi
Not available
Internal cerebral veins not visualized Bilateral cerebral atrophy and leptomeningeal enhancement Left parietal gyral calcifications Bilateral prominent choroid plexus Paucity of right cortical veins
2.5-year-old female [presented patient]
Left facial portwine nevus, congenital glaucoma, mild right hemiparesis
Not available
Absent left internal cerebral vein Abnormal veins in the left frontal lobe
Tc-DTPA brain scan: increased radiotracer uptake over posterior portion of the left cerebral hemisphere
Noncontrast CT at birth: reportedly negative
Abbreviations: CT ⫽ Computed tomography MRI ⫽ Magnetic resonance imaging 99M Tc-DTPA ⫽ Technetium-99m diethylenetriaminepentacetic acid
It has been suggested that the clinical deterioration in Sturge-Weber syndrome may be due to slow venous drainage in the leptomeningeal angiomas causing cerebral venous hypertension. Deep venous occlusion may further exacerbate this problem by rerouting the venous drainage into the overburdened angioma [14]. On the basis of the theory that Sturge-Weber syndrome may be
346
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caused by recurrent venous thrombotic episodes, it has been postulated that antiplatelet therapy may stabilize neurologic function [17]. Unfortunately, in the case presented here, we were unable to determine whether the left internal cerebral vein was patent on the initial magnetic resonance imaging. It would be interesting to observe whether there was progressive occlusion of the
internal cerebral vein or whether the vein was initially atretic. Conclusion There is clearly a spectrum of findings in Sturge-Weber syndrome. The classic clinical presentation includes a facial port-wine stain, congenital glaucoma, and seizures. Typical radiographic findings include leptomeningeal and choroid plexus angiomatosis, hemiatrophy, and cortical parenchymal calcification ipsilateral to the port-wine stain. Deep venous occlusions occur in a subset of these patients. Six prior reported cases of deep venous occlusion in Sturge-Weber syndrome all had seizures and five of six had evidence of leptomeningeal angiomatosis. Half of them had hemiatrophy. This report describes a unique case of Sturge-Weber syndrome lacking clinical seizures, but with a port-wine stain and congenital glaucoma. The case also lacks the radiologic findings of leptomeningeal angiomatosis and hemicerebral atrophy, but demonstrates deep venous occlusion with frontal venous collaterals. This case illustrates the unusual finding of deep venous occlusion in Sturge-Weber syndrome and demonstrates that it can occur without leptomeningeal angiomatosis. Additionally, it demonstrates that although the initial neurologic examination appears normal, patients may later develop clinical manifestations of the disease. References [1] Marti-Bonmati L, Menor F, Poyatos C, Cortina H. Diagnosis of Sturge-Weber syndrome: Comparison of the efficacy of CT and MR imaging in 14 cases. AJR 1992;158:867-71. [2] Bebin EM, Gomez MR. Prognosis in Sturge-Weber disease: Comparison of unihemispheric and bihemispheric involvement. J Child Neurol 1988;3:181-4.
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