|Year : 2014 | Volume
| Issue : 4 | Page : 497-501
Spectrum of CT and MR findings in Sturge-Weber syndrome: A case report
Pallavi J Agrawal, Amit T Kharat, Rajesh Kuber, Sunita Shewale
Department of Radiodiagnosis, Padmashree Dr. D.Y. Patil Medical College, Hospital and Research Centre, Dr. D.Y. Patil Vidyapeeth, Pimpri, Pune, India
|Date of Web Publication||25-Jun-2014|
Pallavi J Agrawal
Resident IIIrd year, Dr. D.Y. Patil Medical College, Department of Radiodiagnosis, Sant Tukaram Nagar, Pimpri, Maharashtra
Source of Support: None, Conflict of Interest: None
Sturge-Weber syndrome is an uncommon, sporadically occurring neurocutaneous syndrome characterized by port wine stain (facial nevus flammeus), congenital glaucoma, and anomalous leptomeningeal angiomatous malformation. Port wine stain is usually the first component of the syndrome. Seizures of the side contralateral to the port wine stain occur early in infancy and worsen with age. Radiological investigations, like computed tomography and magnetic resonance imaging are most useful, playing a pivotal role in demonstrating the cerebral changes. We report the case of a 10-month-old infant presenting with port wine stain over face, trunk, and extremities, hemiparesis of the left side of the body, and new onset of seizure. This case highlights the various neurological manifestations of Sturge-Weber syndrome and how imaging helps to characterize each.
Keywords: Cerebral hemiatrophy, neurocutaneous syndrome, phakomatoses, port wine stain, pial angioma, Sturge-Weber syndrome (SWS)
|How to cite this article:|
Agrawal PJ, Kharat AT, Kuber R, Shewale S. Spectrum of CT and MR findings in Sturge-Weber syndrome: A case report. Med J DY Patil Univ 2014;7:497-501
|How to cite this URL:|
Agrawal PJ, Kharat AT, Kuber R, Shewale S. Spectrum of CT and MR findings in Sturge-Weber syndrome: A case report. Med J DY Patil Univ [serial online] 2014 [cited 2020 Sep 18];7:497-501. Available from: http://www.mjdrdypu.org/text.asp?2014/7/4/497/135284
| Introduction|| |
Among the neurocutaneous syndromes, Sturge-Weber syndrome (SWS) is rare and unique as it is one of the very few phakomatoses that are sporadic and not inherited. It is also one of the most disfiguring syndromes, as a prominent nevus flammeus is seen in majority cases. The reported prevalence of SWS is 1 in 50,000 live births.  It is characterized by facial capillary malformations (classically referred to as angiomas even though they are not tumors), accompanied by variable degrees of ocular and neurological anomalies.
The exact etiology is unknown but the primary defect may be a developmental insult affecting precursors of tissues that originate in the promesencephalic and mesencephalic neural crest, which later give rise to vascular and other tissue malformations in the meninges, eye, and the dermis  Radiological investigations are most useful, with computed tomography and magnetic resonance imaging playing a pivotal role in demonstrating the cerebral changes. We bring to the readers a case of SWS with varying degrees of bilateral cutaneous vascular malformation, cerebral hemiatrophy with contralateral hemiparesis, and new onset seizure.
| Case Report|| |
A 10-month-old female child was brought by her parents with complaints of single episode of left-sided, tonic-clonic convulsions followed by loss of consciousness 1 day back. This was preceded by moderate to high-grade fever. As described by the mother, there was weakness of the left side of the body and stunted growth of the same could be demonstrated compared to the right side. Child was born by a full-term normal vaginal delivery without requirement of an intensive care treatment.
On clinical examination, there was extensive discoloration of the skin involving the right-sided forehead, cheek, chin with extension to the left side, the trunk, upper and lower limb largely limited and well demarcated on the right half of the body with extension to the left side only in the upper aspect of the trunk. The discoloration was reddish brown in color, which is typically described as port wine stain. It was present since birth and had no increase or decrease in the extent. In addition, the left half of face, the left upper and lower limbs were small in girth compared to the right side [Figure 1].
MRI brain revealed hemiatrophy of the right cerebral hemisphere with prominent sulci, sylvian fissure and prominent subarachnoid space. Multiple flow voids of prominent veins were noted in the dilated subarachnoid space and in the basal cisterns on the right side. Similar flow voids were seen over the left temporal pole also. Dilated subependymal and deep cerebral veins (septal veins, thalamostriate) were also noted [Figure 2]. Faint areas of blooming were noted in the right frontal and left frontoparietal region which was thought to represent early calcification [Figure 3]. On post contrast study, there was intense leptomeningeal gyriform enhancement involving the right cerebral hemisphere. Subtle enhancement was also noted in the post central gyrus of the left side. The choroid plexus in the right atrium appeared thickened with intense post contrast enhancement [Figure 4].
|Figure 2: T2W axial images (Figure 2a and 2b) and T2W coronal image (Figure 2c) of the brain reveal hemiatrophy of the right cerebral hemisphere with prominent sulci and subarachnoid space. Multiple flow voids of prominent veins were noted in the dilated subarachnoid space and in the basal cisterns on the right side (red arrow). Similar flow voids were seen over the left temporal pole also (yellow arrow). Dilated deep medullary, subependymal and deep cerebral veins (septal veins, thalamostriate) were also noted (blue arrow)|
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|Figure 3: Axial GRE image shows faint areas of blooming in the right frontal and left fronto-parietal region, which represented faint calcification|
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|Figure 4: Axial post contrast T1W images show intense leptomeningeal gyriform enhancement involving the right cerebral hemisphere. Subtle enhancement is also noted in the post central gyrus of the left side. The choroid plexus in the right atrium appears to be thickened with intense enhancement|
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On MR Venogram, there was a paucity of the superficial cortical veins in the frontal region and a prominence in bilateral parietal region superficial cortical veins. The deep venous system was prominent (septal, thalamostriate, medullary, and internal cerebral veins) with a tortuous course. Right transverse sinus was hypoplastic with a prominent left occipital sinus having an abnormal communication with the left internal jugular vein [Figure 5].
MR angiogram revealed attenuation of the M3 segment of the MCA on right side [Figure 6].
|Figure 6: 3D TOF MIP image of MR angiography reveals paucity of the cortical M3 branches of the right MCA|
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Limited section CT brain was performed to evaluate the blooming foci seen on GRE. Soft calcification was noted involving the subcortical white matter of the right cerebral hemisphere, predominantly in the fronto-parieto-occipital region. Subtle areas of calcification were also noted in the subcortical region of the left frontal cortex [Figure 7].
|Figure 7: Axial CT brain sections showing soft calcification involving the subcortical white matter of the right cererbral hemisphere, predominantly in the fronto-parieto-occipital region and minimal in the left frontal region. Right sided cerebral atrophy and left frontal cortex atrophy is also appreciated|
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On the basis of these findings, a diagnosis of Sturge-Weber syndrome was suggested.
| Discussion|| |
Sturge-Weber syndrome, also known as encephalotrigeminal angiomatosis, is a rare neurocutaneous syndrome with estimated prevalence of 1 in 50,000 live births. 
Its hallmarks are variable combinations of
- Capillary malformation of skin (port wine stain) in the distribution of trigeminal nerve
- Retinal choroidal angioma (with or without glaucoma) and
- Cerebral capillary-venous leptomeningeal angioma
Thus SWS is a vascular phakomatosis, which means that unlike the commoner phakomatoses like neurofibromatoses, tuberous sclerosis, or Von Hippel Lindau disease, it manifests without associated neoplasms but with predominant vascular manifestations.
SWS is also noteworthy among neurocutaneous syndromes in that it is one of the very few syndromes that is sporadic and not inherited. 
The imaging studies are useful for confirming the diagnosis of Sturge-Weber syndrome and evaluating the extent of intracranial involvement and may be important when clinical stigmata are atypical or not yet developed. While both CT and MR imaging are sensitive in providing anatomic information, contrast-enhanced MR imaging is the corner of diagnosis in SWS which best depicts the presence and extent of leptomeningeal angiomatosis which is the hallmark of SWS. Abnormal cerebrovenous drainage is associated with ischemia, hypoxia, and glucose deprivation, which can account for progressive neurologic deterioration in SWS. This decreased perfusion and reduced glucose metabolism can be studied using MR perfusion imaging (PWI) and also by nuclear medicine studies such as Single-photon emission CT (SPECT) scanning, technetium-99m ( 99m Tc) hexamethylpropyleneamine oxime (HMPAO) scanning, and fluorodeoxyglucose (FDG) positron emission tomography (PET) scans.  Both studies show diminished perfusion in the areas of leptomeningeal enhancement, indicating that cerebral hypoperfusion is predominantly due to impaired venous drainage. In addition, the studies have shown that the severity of cerebral hypoperfusion reflects the amount of neuronal damage, which in turn correlates with the degree of neurological impairment. As blood flow changes occur prior to the anatomic changes, early detection of perfusion abnormality using MR PWI and nuclear medicine studies can predict imminent white matter damage and may be of substantial help in planning early treatment.
Quantitative brain MR spectroscopy (MRS) also helps in assessing physiologic alterations in SWS. Pathologic parenchyma shows a choline increase and N-acetylaspartate (NAA) decrease compared to the unaffected contralateral cerebral parenchyma. These changes reflect neuronal loss or dysfunction that result due to hypoperfusion and resultant demyelination. The imaging findings and causal reasoning behind them have been charted out in [Table 1].
|Table 1 : Characteristic SWS imaging fi ndings with their corresponding pathology|
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Port wine stains are congenital cutaneous birthmarks, which may be associated with syndromes like SWS and Klippel Trenaunay Weber Syndrome KTWS. Hence, in a child with unilateral involvement of face, MR brain must be performed to rule out CNS manifestations of SWS. There were no ocular complications in our case. Also, presence of port wine stain in our case was not restricted to the sensory distribution of trigeminal nerve, as is typical for SWS, but was extensive, involving the trunk and limbs as well, not to ignore the bilaterality. This is in keeping with the imaging findings which reveal bilateral involvement of the cerebral hemispheres, right more than left. Also, the left-sided hemiatrophy of the body associated with left-sided weakness can be attributed to the trophic effect of the right cerebral hemiatrophy. No vascular or lymphatic malformations were detected elsewhere in the body, which was looked for on a whole body STIR sequence.
In a case presenting with cerebral hemiatrophy, the other differentials like intrauterine vascular/ischemic injury, Dyke-Davidoff-Masson syndrome, and Herpes simplex encephalitis must be borne in mind. However, the clinical finding of port wine stain and imaging findings like cortical subcortical calcifications, the absence of white matter abnormalities like gliosis, and absence of changes in the skull vault make SWS the only relevant diagnosis.
Treatment of SWS consists of control of seizures. Hemispherectomy has been recommended early in life in case of refractory seizures, first for better seizure control and also to promote intellectual development. The prognosis of this case is poor due to early onset of seizures and extensive leptomeningeal angiomatosis, which will lead to early developmental delay and special educational requirements. 
| Conclusion|| |
Sturge-Weber Syndrome is a rare, sporadic condition due to primary venous dysplasia causing impaired venous outflow and subsequent cerebral ischemia.
Certain types can progress to intractable epilepsy and may necessitate radical surgical intervention. Radiologic imaging plays several key roles in the management of SWS patients. MRI confirms the diagnosis of intracranial involvement and helps document the extent of involvement. CT is more sensitive than MRI for detecting cortical calcifications. Newer techniques like MR perfusion, MR spectroscopy and nuclear medicine studies offers functional data (metabolic activity) and hence early detection of the disease before structural changes ensue, also providing prognostic information that can help guide management, including surgical planning.
| Acknowledgment|| |
Dr. S. R. Agarkhedkar, (Prof. & HOD), Dept of Paediatrics for referring this case to Radiology.
| References|| |
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|2.||Takeoka M, Riviello JJ. Sturge Weber syndrome. Available from: http:// emedicine.com [May 20, 2013] |
|3.||Lin DD, Barker PB, Kraut MA, Comi A. Early characteristics of Sturge-Weber syndrome shown by perfusion MR imaging and proton MR spectroscopic imaging. AJNR Am J Neuroradiol 2003;24:1912-5. |
[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7]