STURGE WEBER SYNDROME (SWS) PRESENTING WITH PARIETAL BONE CALCIFICATION – A Case Report

ABSTRACT
Sturge Weber syndrome (SWS) also called encephalotrigeminal angiomatosis, is an uncommon entity in India. Even though few cases have been reported from India. The characteristic feature of SWS is the presence of “port-wine stain”, vascular capillary malformation varying from light pink to deep purple, covering trigeminal nerve distribution (eye and forehead region of the face). Most lesions appear on the face but and patients have associated ocular involvement, mental retardation, and seizures due to the involvement of the vasculature of eye and the central nervous system. The oral feature of SWS varies. The most relevant characteristic is represented by gingival hemangiomatous lesion usually restricted to the ipsilateral maxilla and mandible. Few cases of this syndrome have been reported with orofacial deformity. Literature reviewed did not indicate any case of SWS with parietal bone calcification. Hence we have reported a case of SWS with orofacial deformity and parietal bone calcification.

KEY WORDS

Sturge Weber syndrome, angiomas, encephalotrigeminal angiomatosis, port-wine nevus, leptomeningeal angioma, orofacial deformity, parietal bone calcification.

STURGE WEBER SYNDROME (SWS) WITH OROFACIAL DEFORMITY– A CASE REPORT

INTRODUCTION
Sturge Weber syndrome (SWS) is a neurocutaneous disorder which is also known as encephalotrigeminal angiomatosis. SWS is characterized by an intracranial vascular anomaly, leptomeningeal angiomatosis, most often involving the occipital and posterior parietal lobes and skin of the face, typically in the ophthalmic (V1) and maxillary (V2) distributions of the trigeminal nerve. The neurological manifestation varies and includes seizure, headache and developmental disorders. The primary complication involving ipsilateral eye is bupthalmos and glaucoma1. The most common oral manifestation is represented by the gingival hyperplasia (vascular type) usually restricted to the ipsilateral maxilla or mandible2,3, bleeding problems for extractions, more advanced eruption of teeth on affected side than on unaffected side, angiomatosis involving buccal mucosa and lips, macrocheila (large lips), hemihypertrophy of tongue, changes in alveolar process, unilateral malocclusion. The radiological finding may indicate bone destruction, furcation involvement, irregular bone trabecular pattern and loss of lamina dura over teeth present in affected areas. On X-rays skull or CT scan head “railroad track” appearance may be observed.
To the extent possible, we have not come across any case of SWS which indicated parietal bone calcification. Hence we are reporting a case of SWS with orofacial deformity and parietal bone calcification.

CASE REPORT
An 18 year old male reported to the Department of Periodontology and Oral Implantology, Government Dental College & Hospital, Jaipur with chief complaints of gingival swelling and bleeding gums in right upper anterior region. The preliminary extra oral examination revealed a unilateral facial vascular nevus (port wine stains) on the right side of face extending from forehead to the middle third of face including upper lip following ophthalmic and maxillary course of trigeminal nerve and glaucoma in right eye leading to blindness, complicated with severe nasal, oral and periodontal findings [Figure 1]. Patient's attendant reported that this had been present since birth. Patient was malnourished. There was no history of seizures. Intra oral examination revealed an angiomatous swelling in the right upper anterior gingiva which bled on probing [Figure 2, 3]. The deformity in alveolar bone, high arched palate [Figure 4], caries in 73, 63 teeth and orofacial deformity were present. The oral hygiene was poor. Panoramic radiograph was taken which show alveolar bone deformity [Figure 5]. MRI skull revealed right parietal bone calcification [Figure 6]. After taking into consideration of aforesaid findings, the diagnosis of Sturge Weber syndrome was established. The periodontal treatment adopted consisted of thorough scaling with close follow up, and oral hygiene orientation.

DISCUSSION

According to Nelson Text book of Pediatrics9, the incidence of SWS is estimated at 1 per 50,000. No racial/regional differences have been identified. Both sexes are equally affected. The inheritance is sporadic. The incidences of major clinical manifestation of SWS1 are listed in Table–1.
The clinical diagnosis of SWS is usually definitive; however the recognition of this syndrome is complicated at times due to incomplete clinical and radiological findings. SWS is caused by the abnormal persistence of an embryonal vascular system which is localized around the cephalic portion of the neural tube5. Normally, this vascular plexus forms in the sixth week and regresses around ninth week of gestation. Failure of this normal regression results in residual vascular tissue, which forms the angiomata of the leptomeninges, face and ipsilateral eye. Neurologic dysfunction results from secondary effects on surrounding brain tissue, which include hypoxia, ischemia, venous occlusion, thrombosis, infarction, or vasomotor phenomenon.
SWS is referred as complete when both CNS and facial angiomas are present and incomplete when only one area is affected without the other.

The encephalotrigeminal angiomatosis has been classified in three types:
Type I characterized by facial and leptomeningeal angiomas and possibly glaucoma (classic syndrome);
Type II in which is detected facial angiomas without neurological disturbances and may have glaucoma; and
Type III that is represented by the presence of isolated leptomeningeal angioma and no glaucoma5,6.

Garcia et al7 and Gomez and Bebin8 reported that venous occlusion might actually cause the initial neurologic event, either a seizure, transient hemiparesis, or both, thereby beginning the process, a "vascular steal phenomenon" developing around the angioma6, resulting in cortical ischemia. Therefore, recurrent seizures, status epilepticus, intractable seizures, and recurrent vascular events may aggravate this steal further, with an increase in cortical ischemia, resulting in progressive calcification, gliosis, and atrophy, which in turn increase the chance of seizures and neurologic deterioration. The main ocular manifestations (i.e., buphthalmos, glaucoma) occurs secondary to increased IOP with mechanical obstruction of the angle of the eye, elevated episcleral venous pressure, or increased secretion of aqueous fluid.

Since the reported risk of orofacial deformities (8%) in SWS cases is rare in comparison to other clinical presentations, the presented case of SWS, presented mainly with orofacial deformities i.e. facial nevus on right side of face, angiomatous gingival swelling on the affected site, glaucoma blindness in right eye i.e. on the side of nevus and high arch palate. The patient did not exhibit neurological involvement such as seizure or mental retardation. The panoramic x-ray revealed deformity in alveolar bone. So our patient was classified under type II of SWS.

The literature has demonstrated that the distribution of the facial angiomas is associated to the trigeminal nerve ramifications2,10. In our case, unilateral facial vascular nevus (port wine stains) on the right side of his face extending from forehead to the middle third of face including upper lip following ophthalmic and maxillary course of trigeminal nerve.
The reviewed literature did not report parietal bone calcification so far. This case on MRI brain reveals right parietal bone calcification which is a new finding in these cases.
Although there’s no cure for Sturge Weber syndrome and treatment focuses on the symptoms. In cases of SWS where oral surgical procedures are needed in the area affected by vascular lesions, such as periodontal surgery or tooth extraction, special attention must be given to the risk of severe intra and post operative hemorrhage. The treatment of the disease is essentially a neurosurgical problem, although the convulsions can sometimes be controlled by anticonvulsant drugs. Laser therapy treatment can lighten or remove the port wine stain on the face. Intra ocular pressure should be controlled by beta-antagonist eye drops. The oral rehabilitation of patients with SWS is usually complex requiring conservative treatment. Surgical treatment if required is carried out after thorough planning. For the present case, the periodontal treatment adopted consisted of thorough scaling with close follow up, and oral hygiene orientation.

CONCLUSION
SWS with orofacial deformities are rarely reported entity. This case presented in Department of Periodontology & Oral Implantology with orofacial deformities and parietal bone calcification along with other clinical manifestations of Sturge Weber syndrome. Sturge Weber syndrome is clinically important to the periodontist because of its associated gingival vascular features and their complicating manifestations. There is no medical management of these cases and the surgical management is not very successful. The maintenance of oral hygiene is very important in these cases.

REFERENCES
1. http://www.emedicine.com/neuro / TOPIC 356. HTM
2. Caiazzo A et al The use of preoperative percutaneous transcatheter vascular occlusive therapy in the management of Sturge Weber syndrome: report of a case. J Oral Maxillofac Surg 1998; 56: 775-778.
3. Arzimanoglouann AA et al . Sturge-Weber syndrome: indications and results of surgery in 20 patients. Neurology 2000; 55: 1472-1479.
4. Wilms G, Van Wijck E, Demaerel P. Gyriform calcifications in tuberous sclerosis simulating the presence of Sturge Weber disease. Am J Neuroradiol. Jan-Feb 1992; 13 (1): 295-7.
5. Aydin A, Cakmakci H, Kovanlikaya A., Dirik E. Sturge Weber syndrome without facial nevus. Pediatr. Neurol 2000; 22: 400-402.
6. Girija AS, Somanath V. A case of hemeplegic migraine with leptomeningeal angiomatosis. Neurol India 2002; 50: 522-523.
7. Gracia JC, Roach ES, McLean WT. Recurrent thrombotic deterioration in the Sturge-Weber syndrome. Childs Brain. 1981; 8(6): 427-33.
8. Gomez MR, Bebin EM. Sturge-Weber Syndrome. Neurocutaneous Diseases: A Practical Approach. Gomez MR, editor. Butterworths, B. 1987;356-367.
9. Robert H.A. Haslam. The Nervous System. In, Nelson Text Book of Pediatrics (Book II) Eds. W.B.Saunders, USA. 2000:1838.
10. Terezhalmy GT, Riley CK. Encephalotrigeminal syndrome ( Sturge Weber disease). Quitessence Int. 2000; 31: 62-63.

Table-1 : Incidences of Major Clinical Manifestation of SWS
1. Risk of SWS with facial PWS 8%
2. SWS without facial nervus 13%
3. Bilateral Celebral involvement 15%
4. Seizures 72-93%
5. Hemiparesis 25-56%
6. Hemianopia 44%
7. Headaches 44-62%
8. Developmental delay & Mental Retardation 50-75%
9. Glaucoma 30-71%
10. Choroidal Hemangioma 40%
(From - http://www.emedicine.com/neuro/TOPIC 356. HTM).

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Figure 1 Unilateral right sided facial vascular nevus (pws) & oro facial deformity on same side	Figure 2 Angiomatous gingival enlargement in right upper anterior region

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Figure 3 Blanching of angiomatous gingival swelling on pressure	Figure 4 High arch palate (mirror view)

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Figure 5 Panoramic X-ray shows deformity in alveolar bone (dotted circle)	Figure 6 MRI shows calcification in right parietal bone (arrow)