Sturge-Weber Syndrome: A Case Report

Case Report

J Dent App. 2014;1(5): 88-90.

Sturge-Weber Syndrome: A Case Report

Khandelwal S1*, Sharma S2, Patil S3 and Gupta D4

1Department of Oral Pathology & Microbiology, Dr. B R Ambedkar Institute of Dental Sciences, Patna, Bihar, India

2Practitioner, Kota, Rajasthan, India

3Department of Oral Medicine & Radiology, Jodhpur Dental College, Jodhpur, Rajasthan, India

4Department of Prosthodontics, Rajasthan Dental College, Jaipur, India

*Corresponding author: Dr. Suneet Khandelwal, 1 Ja 15, Dadabari, Kota, Rajasthan, India

Received: August 12, 2014; Accepted: September 20, 2014; Published: September 22, 2014


Sturge-weber syndrome (SWS) is a rare, congenital, non-familial neurocutaneous disorder. A case of SWS with involvement of oral cavity is reported. The oral findings, diagnostic strategy and treatment options are discussed.

Keywords: Encephalotrigeminal angiomatosis; Oral manifestations; Sturge-Weber syndrome


Sturge-Weber syndrome (SWS), or encephalotrigeminal angiomatosis, is a rare, congenital non-familial neurocutaneous syndrome characterized by unilateral facial cutaneous vascular malformation (nevus flammeus or port-wine stain) in association with ipsilateral leptomeningeal angiomatosis. Other symptoms associated with SWS can include eye and internal organ irregularities. Each case of SWS is unique and exhibits the characterizing findings to varying degrees [1,2].

The most apparent indication of SWS is a facial birthmark or “Port Wine Stain” (PWS) present at birth and typically involving at least one upper eyelid and the forehead. The stain, varying from light pink to deep purple, is due to an overabundance of capillaries just beneath the surface of the involved skin. Approximately 5% of patients have associated ocular involvement, mental retardation, and seizures due to the involvement of the vasculature of eye and central nervous system. A constellation of findings is called SWS [1].

In rare instances, there is an absence of a PWS. Atypical presentations such as: intracranial venous anomalies, soft tissue hypertrophy, phakomatosis pigmentovascularis, overlapped Klippel- Trenaunay syndrome (cutaneous hemangiomas, venous varicosities and soft tissue or bone hypertrophy of the affected extremities), headache and epilepsy, and an acute life-threatening event have been reported [3].

The radiographic hallmark of SWS is “tram-line” or gyriform calcifications usually involving the occipital and parietal lobes. Histologic studies have revealed that intracranial lesions of SWS display as leptomeningeal angiomatosis, and gyriform calcifications, neuronal loss, astrogliosis in underlying brain tissue.

Here, we report a case of SWS with oral changes; and discuss the clinicopathologic features, diagnostic strategy and treatment plan of the syndrome.

Case Report

A 24-year-old man presented to clinics with a history of pink to reddish discoloration of the right upper half of his face that was noticeable since birth. Discoloration is gradually progressive with swelling of upper lip of left side. Swelling on the lip varied in size time to time with no specific schedule. He also had a history of seizures that occurred once approximately 10-12 years back. He has complaints in his right eye along with slight discoloration of conjunctiva.

On general examination, the patient was in a good condition, with normal gait, built and vital signs. The physical examination revealed a port-wine nevus on the right malar region of his face involving the V1 and V2 areas of distribution of the right trigeminal nerve (Figure 1). This erythematous plaque blanches on pressure. Extra-oral examination showed swelling of right upper half of lip (Figure 2). Intra-oral examination revealed erythematous plaque involving right maxillary gingiva and opposing buccal mucosa. Massive gingival overgrowth was also seen on right maxillary half and is more prominent on buccal than palatal side. Mild deposits and stains were present all around the dentition (Figure 3). All the teeth were firm and patient had no problem in mastication. Orthopantograph findings were otherwise normal except a radiopacity in right maxillary sinus region (Figure 4). Neurologic examination was non contributory. The patient was referred for an ophthalmologic opinion. The diagnosis of glaucoma was made, and the patient was started on betaxolol (beta blocking agent) eye drops, 1 drop in each eye twice a day. There was no family history of epilepsy, mental retardation or a neurocutaneous syndrome.