|Year : 2012 | Volume
| Issue : 1 | Page : 70-74
Orofacial manifestation of Sturge-Weber syndrome: A case report with review
Department of Oral Pathology and Microbiology, Indira Gandhi Government Dental College, Jammu, India
|Date of Web Publication||10-Sep-2012|
Department of Oral Pathology and Microbiology, Indira Gandhi Government Dental College, Jammu
Source of Support: None, Conflict of Interest: None
Sturge-Weber syndrome (SWS), sometimes referred to as encephalotrigeminal angiomatosis, is a rare congenital neurological and skin disorder. It is one of the phakomatoses which is often associated with port-wine stains of the face, glaucoma, seizures, mental retardation, and ipsilateral leptomeningeal angioma. It is characterized by proliferation of arteries of the brain, resulting in multiple angiomas that occur on the same side due to arteriovenous malformations. Normally, only one side of the head is affected and mainly results from the errors in both the mesodermal and ectodermal development. Here, we report a rare case of SWS having oral and facial manifestations, where an 8-year-old boy had actually come for treatment of swollen gums, and on examination, we found that he had typical signs and symptoms of this rare developmental anomaly. The main purpose of this publication is to make the clinician aware of the oral manifestations that are seen in the patients with SWS and also to lay stress on the importance of radiographs in the diagnosis of this syndrome.
Keywords: Angiomatosis, calcifications, developmental disorders, gingival swelling, mental retardation, port-wine stain
|How to cite this article:|
Kaur M. Orofacial manifestation of Sturge-Weber syndrome: A case report with review. J Orofac Sci 2012;4:70-4
| Introduction|| |
The Sturge- Weber syndrome More Details (SWS), also called encephalotrigeminal angiomatosis, is a neurocutaneous disorder with angiomas involving the leptomeninges [leptomeningeal angiomas (LAs)] and skin of the face, typically in the ophthalmic and maxillary distributions of the trigeminal nerve. SWS is manifested at birth by seizures accompanied by a large port-wine stain (PWS) birthmark on the forehead and upper eyelid of one side of the face. The birthmark can vary in color from light pink to deep purple and is caused by an overabundance of capillaries around the ophthalmic branch of the trigeminal nerve, just under the surface of the face. There is also malformation of blood vessels in the pia mater overlying the brain on the same side of the head as the birthmark. The cutaneous angioma is called a PWS. Neurologic and developmental morbidity includes seizures, weakness, strokes, headaches, hemianopsia, mental retardation, and developmental abnormalities. Unlike other neurocutaneous disorders (phakomatoses), Sturge-Weber occurs sporadically (1 in 50,000) and does not have a hereditary etiology. 
| Case Report|| |
An 8-year-old boy was referred to the Department of Oral Pathology and Microbiology with a chief complaint of swollen gums. Medical history was remarkable. He had history of seizures that began at infancy and was mentally retarded. He was on medications for seizures. There was slurring of speech and gait was uncoordinated. Extraoral examination revealed unilateral facial vascular nevus along the division of the trigeminal nerve [Figure 1]. The facial nevus was present since birth. Intraoral examination revealed red swelling involving the maxillary gingiva on the ipsilateral side [Figure 2]. There was bleeding on probing and no local irritants were detected as the causative factor. Oral hygiene was adequate and as such there was no obvious discrepancy in the pattern of tooth eruption. Radiograph showed the presence of tramline gyriform calcification in the occipital region [Figure 3]. On the basis of clinical and radiographic findings as well as medical history, a diagnosis of SWS was made.
|Figure 3: Tramline gyriform calcifications in the occipital region (black arrow)|
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| Discussion|| |
SWS, in its complete form, is a triad of unilateral occurrence of congenital capillary malformation (flame nevus) in the distribution of the trigeminal nerve, ipsilateral leptomeningeal vascular malformations with intracranial calcification and neurologic signs, and vascular malformation of the choroid plexus, often with secondary glaucoma. Inheritance is unclear with most cases being sporadic. SWS is a rare but fourth most frequent neurocutaneous syndrome and embryonal developmental disorder that includes a facial PWS and associated leptomeningeal angiomatosis affecting both the mesodermal and ectodermal germ layers. It was named by William Allen Sturge (1879) and Frederick Parkes Weber (1929) and first described by Schimer in 1860. , No racial differences are seen and both sexes are equally affected.
SWS is referred to as complete when both CNS and facial angiomas are present and incomplete when only one area is affected without the other. The Roach Scale is used for classification, as follows:
- Type I - Both facial and LAs; may have glaucoma
- Type II - Facial angioma alone (no CNS involvement); may have glaucoma
- Type III - Isolated LAs; usually no glaucoma 
As seen in our case report, the 8-year-old child had unilateral facial PWS since birth. The child was also mentally retarded and had history of seizures, which may be considered a case of complete SWS, but according to Roach classification, it may be type I without glaucoma.
SWS is caused by residual embryonal blood vessels and their secondary effects on the surrounding brain tissue. A vascular plexus develops around the cephalic portion of the neural tube, under ectoderm destined to become facial skin. Normally, this vascular plexus forms in the sixth week and regresses around the 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.  Norman and Schoene thought that blood flow abnormalities in the LA caused increased capillary permeability, stasis, and anoxia.  Garcia et al. and Gomez and Bebin reported that venous occlusion might actually cause the initial neurologic event, either a seizure, transient hemiparesis, or both, thereby beginning the process. ,
The case reported here had history of mild episodic attack of seizures since birth for which he was on antiepileptic drugs as prescribed by the physician. The neurologic manifestations vary depending on the location of the LAs, which most commonly are located in the parietal and occipital regions. These include seizures, which may be focal deficits, such as hemiparesis and hemianopsia, both of which may be transient, called "stroke like episodes;" headaches; and developmental disorders, including developmental delay, learning disorders, and mental retardation. The incidence of hemiparesis is approximately 33%, varying from 25 to 56%, and may occur secondary to ischemia with venous occlusion and thrombosis. These "stroke like episodes" occurred in 14 of 20 patients as reported by Maria et al.  Headaches are more likely seen in patients with bilateral involvement and occur secondary to vascular disease, giving symptoms of a migraine headache, considered symptomatic migraine. The patient did not give any history of headaches. Developmental disorders are more common when angiomas are bilateral. A "vascular steal phenomenon" may develop around the angioma, resulting in cortical ischemia which leads to progressive calcification, gliosis, and atrophy, which in turn increase the chance of seizures and neurologic deterioration. Prolonged seizures cause neurologic injury secondary to metabolic disturbances such as hypoxemia, hypoglycemia, hypotension, ischemia, hyperthermia, venous occlusion, thrombosis, infarction, or vasomotor phenomenon. Seizure control, aspirin therapy, and early surgical treatment may prevent neurologic deterioration. ,
According to Roach, the onset of seizures prior to age suggests a greater chance of refractory epilepsy and mental retardation. Patients with refractory seizures are more likely to have mental retardation, since those with refractory seizures have more extensive brain involvement. Episodes of status epilepticus are especially dangerous in SWS. 
Facial nevus and PWS are the congenital macular lesions that can be progressive; they may be of a light pink color initially and then progress to a dark red or purple nodular lesion. These may be isolated to the skin, associated with lesions in the choroidal vessels of the eye or the leptomeningeal vessels of the brain, or even located on other body areas. A PWS may be difficult to visualize in a patient with dark skin pigmentation.
In the largest study to date, Tallman et al. reported on 310 patients with PWS 85% had unilateral and 15% had bilateral involvement and 68% had involvement of more than one dermatome. Only patients with PWS involving the distributions of the V1 and V2 branches of the trigeminal nerve had CNS or eye involvement. Overall, in those with trigeminal involvement, only 8% had CNS and eye involvement; 24% of those with bilateral lesions had eye or CNS involvement compared to only 6% with unilateral lesions. All patients with eye or CNS involvement had lesions on the eyelids; 91% of these had both upper and lower eyelid involvement, whereas 9% had only lower eyelid involvement. None with upper eyelid involvement alone had eye or CNS involvement. Three of 16 patients with involvement of V1, V2, and V3 had eye and/or CNS involvement.  An extrafacial PWS may have associated intracranial abnormalities; for example, in Klippel-Trenaunay-Weber syndrome, neuroimaging may show findings similar to those of SWS and a cervical PWS has been associated with occipital calcifications. 
Glaucoma typically occurs in SWS only when the PWS involves the eyelids. The incidence ranges from 30 to 71%. Glaucoma may be present at birth, but can develop at any age, even in adults. Glaucoma in SWS is produced by mechanical obstruction of the angle of the eye, elevated episcleral venous pressure, or hypersecretion of fluid by either the choroidal hemangioma or ciliary body. Decreased vision and blindness result from untreated glaucoma, with increased - Intraocular pressure (IOP) leading to optic nerve damage. An acceptable range of is 10-22 mm Hg. Buphthalmos (hydrophthalmia), which is the enlargement of the eye, occurs from the same mechanisms as glaucoma.  In the case reported, no eye involvement was evident.
Basal cell carcinoma has been reported to occur within a PWS. 
Weber demonstrated the characteristic gyriform intracranial calcifications which were also seen in our case. The skull radiograph may show the classical "tramline," or "tram-track" or "trolley-track," calcifications. Characteristic features of the disease include cerebral atrophy and enlargement of the medullary and subependymal veins and the choroid plexus. Calcifications are located in the cortex underlying the leptomeningeal vascular malformations, and it is unusual for them to appear before the patient reaches 2 years of age. Calcifications are often gyriform and curvilinear and are most common in the parietal and occipital lobes. Calcification can be more extensive, however, with frontal lobe and/or bilateral involvement.  Computed tomography (CT) scans also show calcifications in areas of atrophy. Calcifications appear as areas of decreased signal intensity on spin density and T2-weighted magnetic resonance (MR) images. ,
Neuroimaging studies include skull radiograph, angiography, CT scan, magnetic resonance imaging (MRI), MRI with gadolinium, and functional imaging with single-photon emission computed tomography (SPECT) or positron emission tomography (PET). 
CSF shows elevated levels of proteins. Angiography shows lack of superficial cortical veins, nonfilling dural sinuses, and abnormal torturous vessels. CT scan shows calcifications, tram-track calcifications, cortical atrophy, abnormal draining veins, enlarged choroid plexus, blood-brain barrier breakdown (during seizures), and contrast enhancement. MRI shows gadolinium enhancement of LA, enlarged choroid plexus, sinovenous occlusion, cortical atrophy, and accelerated myelination. SPECT shows early hyperperfusion and late hypoperfusion. PET shows hypometabolism. Electroencephalogram (EEG) shows reduced background activity, polymorphic delta activity, and epileptiform features. ,,,, As such, none of the above-mentioned investigations was performed in the case reported.
The etiology of SWS is unclear, although Huq et al. reported evidence of somatic mosaicism in four patients with SWS. Two had skin biopsy from PWSs and the other two had LAs from hemispherectomy. Inversion of chromosome arm 4q (q22 >q28) and trisomy 10 were seen in one patient each.  In our case, no family history of signs and symptoms of SWS was reported.
Comi et al. reported that in patients with SWS, decreased expression of fibronectin was noted in the leptomeningeal blood vessels while increased expression was noted in the parenchymal vessels. The leptomeningeal blood vessel circumference was decreased, while blood vessel density was increased in SWS. 
In regard to the oral findings, hypervascular changes were detected as stated by the literature. The alterations were related to angiomas at the gingival mucosa, lip, and palate, all of them on the affected side, and also gingival hyperplasia. Unilateral red swelling of gingiva was clearly evident in our case. The oral rehabilitation of patients with SWS is usually complex requiring conservative procedures and, in some cases, surgical approaches through an accurate planning and the utilization of techniques which diminish the bleeding. ,
Management includes anticonvulsants for seizure control, symptomatic and prophylactic therapy for headache, glaucoma treatment to reduce the IOP, and laser therapy for PWS. Early surgery has been advocated specifically in SWS to improve outcome and prevent refractory seizures, developmental delay, and hemiparesis.  In the era prior to modern neuroimaging, Alexander and Norman and, later, Alexander suggested exploratory craniotomy and lobectomy if the diagnosis was confirmed, even before seizures started, because they found that early-onset seizures were associated with mental retardation. 
Hoffman et al. and then Ogunmegan et al. later advocated early hemispherectomy for seizures. Therefore, the need for surgery, its timing, and the appropriate surgical procedure are important considerations. ,
| Conclusion|| |
SWS is a rare disorder that is present at birth. A child with this condition will have a PWS birthmark (usually on the face) and neurologic problems. Seizures, paralysis, or weakness on one side, learning disabilities, and glaucoma may be the signs of the condition. Tests may include X-rays, MRI scan, and CT scan. Treatment is based on the patient's signs and symptoms. Consultations are needed from a neurologist, an epileptologist, a dermatologist, a plastic surgeon, a psychologist, a psychiatrist, a neuropsychologist, and a neuroendocrinologist. The Sturge-Weber Foundation's (the SWF) international mission is to improve the quality of life and care for people with SWS and associated port-wine birthmark conditions. It supports them with education, advocacy, and research to promote effective management and awareness.
| Acknowledgment|| |
The Author would like to thank the patient for providing consent to use her photograph in this article.
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[Figure 1], [Figure 2], [Figure 3]